Dissertations / Theses: 'Chromosome number in okra'

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Safdar, Misbah. "Fruit yield and quality of okra (Abelmoschus esculentus (L.) Moench) evaluated under high-temperature stress." Thesis, The University of Sydney, 2018. http://hdl.handle.net/2123/20698.

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Okra is a nutritious vegetable that belongs to the family Malvaceae. It is widely grown in the tropical, sub-tropical, temperate and Mediterranean regions of the world. However, little evidence of the impacts of high temperature stress on various physiological, morphological, biochemical and metabolic processes is available for okra nor is the extent of genetic variation known. This study characterized and evaluated 176 diverse okra germplasm under constant high temperature to assess morphological and physiological changes to growth and development and to identify molecular markers linked to heat tolerance. In the process, the ploidy level and genome size of diverse materials were established. Significant marker-trait associations (MTAs) were found for various morphological and phenological traits. These included days to fruiting, plant height and stem diameter, that once validated, could be used for marker-assisted breeding. Fruit nutrient analysis identified significant genotypic differences for Ca, Fe, and Na and some organic metabolites including sucrose. The accumulation of Ca, Na and Fe and sugars in the fruit of some genotypes acted not only as osmolytes or protectants during fruit development, but also influenced signal transduction and the maintenance of cell membrane integrity. High temperature also impacted pollen micromorphology. Tolerant genotypes had dehisced anthers and fully turgid and spined pollen grains with improved germination compared to sensitive genotypes. The optimal temperature for pollen germination was observed to be 25°C while temperatures above 45°C caused significant damage. Flow cytometry indicated that the relative number of chromosomes varied from 84-189 and ploidy level from 7x to16x. The genome size data were inadequate to accurately indicate the number of chromosomes. A negative correlation between relative ploidy and genome size showed a downsizing of the genome with increased ploidy level.

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Sherman, JoAnn Davis 1955. "Chromosome morphology, number and behavior of some Arizona Plantago species." Thesis, The University of Arizona, 1987. http://hdl.handle.net/10150/276649.

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Mitosis and meiosis of five Plantago species were analyzed. Plantago argyrea, P. patagonica and P. wrightiana contain 2n = 20 chromosomes and P. rhodosperma and P. virginica 2n = 24 chromosomes. Similar modes of evolution of the karyotypes of the 2n = 20 species are suggested. All species are presumed to be tetraploid, arising from 2n = 10 and 2n = 12 ancestors. Structural changes in the karyotype of 2n = 12 species could produce one or more large chromosomes resulting in a decrease in chromosomes from 6 to 5. Consequently, chromosome lengths in 2n = 10 and derived 2n = 20 species could be increased by addition of repetitive DNA along the length of each chromosome to maintain chromosome field. Chromosomes of 2n = 24 species are more symmetrical and presumably more primitive than the 2n = 20 species. Chiasma frequencies in meiotic cells of all five species are similar. This suggests that the majority of changes DNA content are in repetitive DNA.

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Nicholson, Joshua Miles. "The effects of chromosome number changes on mitotic fidelity and karyotype stability." Diss., Virginia Tech, 2015. http://hdl.handle.net/10919/52957.

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The correct number of chromosomes is important for the maintenance of healthy cells and organisms. Maintenance of a correct chromosome number depends on the accurate distribution of chromosomes to the daughter cells during cell division, and errors in chromosome segregation result in abnormal chromosome numbers, or aneuploidy. Aneuploidy is typically associated with deleterious effects on organismal and cellular fitness; however, aneuploidy has also been associated with enhanced cellular growth in certain contexts, such as cancer. Another type of deviation from the normal chromosome number can occur when entire sets of chromosomes are added to the normal (diploid) chromosome number, resulting in polyploidy. Whereas polyploidy is found in certain normal tissues and organisms, tetraploidy (four sets of chromosomes) is associated with a number of precancerous lesions and is believed to promote aneuploidy and tumorigenesis. While it is clear that chromosome mis-segregation causes aneuploidy, the effect of aneuploidy on chromosome segregation is less clear. Similarly, it is unclear whether and how tetraploidy may affect chromosome segregation. The work described here shows that aneuploidy can cause chromosome mis-segregation and induces chromosome-specific phenotypic effects. In contrast, tetraploidy does not per se induce chromosome mis-segregation, but enables the accumulation of aneuploidy thanks to a "genetic buffer" effect that allows tetraploid cells to tolerate aneuploidy better than diploid cells. Ph. D.

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Fonseka, K. Gothami Lakshika. "Factors affecting chromosome copy number and nuclear organisation in human sperm and embryos." Thesis, University of Kent, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.595301.

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Chromosome copy number aberrations are a leading cause of birth defects, stillbirths, pregnancy loss and infertility. Every human male has a proportion of chromosomally abnormal sperm however conditions such as infertility, cancer, cancer treatments, and environmental factors can increase this. Chromosome abnormality is commonplace in human embryos and one reason for the development of the controversial preimplantation genetic screening CPOS). Factors such as embryo quality and maternal age are cornmon correlates. Appropriate nucleus positioning of chromosome territories is also though to be indicative of a "healthy" nucleus with aberrations in such nuclear organization associated with disease. The purpose of this study was to provide insight into the relationship between chromosome copy number, nuclear organization and various aetiological factors in human sperm and early stage embryos. Specifically. • To investigate the nuclear positioning oftelomeric and sub telomeric region in sperm cells and test the hypothesis that such organisation is altered in infertile males. • To investigate the nuclear positioning of centromeric and locus specific regions of 5 chromosomes in sperm cells from males undergoing chemotherapeutic treatment for testicular cancer and Hodgkin's lymphoma and test the hypothesis that either the cancer, or its treatment significantly alters patterns of nuclear organization. • To analyse FISH based PGS and "follow up" in 250 treatment cycles to investigate levels of aneuploidy false negative and positive results, also well as effects of different indications such as maternal age. • To investigate the levels of aneuploidy for all 24 chromosomes using a newly developed multicolour FISH technique. To test hypotheses that factors e.g. maternal age and embryo morphology significantly effect levels, and that day 3 and day 5 results are concordant. • To assess levels nuclear organisation of human embryos for loci on all 24 chromosomes and their relationship to maternal age, day 3 and day 5 embryo morphology. Overall, results provide some evidence for differences in nuclear organisation in infertile males compared to controls for telomeric but not sub-telorneric loci. Effects of cancer (testicular cancer and Hodgkin's lymphoma) and chemotherapy were subtle at best with one testicular cancer patient showing a significant difference compared to controls. In embryos, monosomy appeared more common that trisomy and effects of maternal age and embryo quality were apparent when a small subset of chromosomes were analysed. Similar analysis with a 24 FISH assay confirmed monosomy/trisomy ratios however failed to show significant relationship with maternal age and embryo morphology, thereby raising questions about the reliability of the technique. Finally comparison of various parameters and nuclear organization revealed consistent alterations of the position of specific centromeres (e.g. for chromosomes 3 and 4). In conclusion, FISH is now clearly old technology for PGS but has great potential for the analysis of mosaicism and nuclear organisation.

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Chiu, Pui-man, and 趙佩文. "Molecular genetics of cervical cancer: from chromosome number alterations to aberrant gene expressions." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2009. http://hub.hku.hk/bib/B43085544.

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Chiu, Pui-man. "Molecular genetics of cervical cancer from chromosome number alterations to aberrant gene expressions /." Click to view the E-thesis via HKUTO, 2009. http://sunzi.lib.hku.hk/hkuto/record/B43085544.

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Kiley, Ann L. "Chromosome number and phylogenetic relationships in selected species of North American diaptomus (Copepoda, Calanoida)." Virtual Press, 1985. http://liblink.bsu.edu/uhtbin/catkey/415661.

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The chromosome numbers of the eight following species of freshwater diaptomid copepods were examined to elucidate relationships between species: Aglaodiaptomus clavipes, A. leptoups, Leptodiaptomus ashlandi, A. minutus, A. sicilis, A. siciloides, Skistodiaptomus oregonensis, and S. pallidus. The specimens evaluates were collected from various lakes in Wisconsin including Lake Michigan. Squash mounts were prepared from female individuals for microscopic evaluation. Comparisons of chromosome numbers and chromosome morphology indicated that the species considered are not as closely related as might be suspected based on external morphological considerations. The chromosome numbers varied greatly between species and no consistant numbers within subgenera were observed, substantiating the idea that the species are clearly well separated phylogenetically. A technique for preparing chromosome squash mounts from formalin preserved specimens in presented.Ball State UniversityMuncie, IN 47306

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Silva, Mara Lisa Gaspar da. "Clinical Relevance of Oncogenic Point Mutations And Chromosome Copy Number Changes In Gastrointestinal Stromal Tumors." Master's thesis, Instituto de Ciências Biomédicas Abel Salazar, 2008. http://hdl.handle.net/10216/19375.

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Barks, James Harold 1966. "Increased chromosome 20 copy number detected by fluorescent in situ hybridization (FISH) in malignant melanoma." Thesis, The University of Arizona, 1996. http://hdl.handle.net/10150/278562.

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DNA amplification is an important mechanism of tumor progression that allows cancer cells to up-regulate expression of critical genes such as oncogenes. Recent studies using comparative genomic hybridization revealed increased DNA copies on chromosome 20q in seven melanoma cell lines and eight archival metastatic melanoma lesions. We performed FISH analysis of metaphase spreads in 13 melanoma cell lines and nine primary melanoma specimens using a variety of probes specific for chromosome 20. All 13 cell lines (100%) and 8/9 primary tumors (89%) showed extra copies of chromosome 20 relative to tumor ploidy. Additionally, 6/14 cell lines (43%) and 2/8 primary tumors (25%) showed translocated chromosome 20 material. Cytological evidence for gene amplification was found in one of the 13 cell lines with an add(20)(p13). These data suggest that over-representation of a gene(s) important for melanoma pathogenesis occurs on the chromosome 20 long arm.

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Silva, Mara Lisa Gaspar da. "Clinical Relevance of Oncogenic Point Mutations And Chromosome Copy Number Changes In Gastrointestinal Stromal Tumors." Dissertação, Instituto de Ciências Biomédicas Abel Salazar, 2008. http://hdl.handle.net/10216/19375.

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Myka, Jennifer Leigh. "COMPARATIVE GENE MAPPING FOR EQUUS PRZEWALSKII AND E. HEMIONUS ONAGER WITH INVESTIGATION OF A HOMOLOGOUS CHROMOSOME POLYMORPHISM IN EQUIDAE." UKnowledge, 2003. http://uknowledge.uky.edu/gradschool_diss/476.

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The ten extant species in the genus Equus are separated by less than 3.7 million years of evolution. Three lines of investigation were pursued to further characterize equid genome organization. 1.) The Przewalski.s wild horse (E. przewalskii, EPR) has a diploid chromosome number of 2n=66, while the domestic horse (E. caballus, ECA) has 2n=64. A comparative gene map for E. przewalskii was constructed using 46 bacterial artificial chromosome (BAC) probes previously mapped to 38 of 44 E. caballus chromosome arms and ECAX. BAC clones were hybridized to metaphase spreads of E. przewalskii and localized by fluorescent in situ hybridization (FISH). No exceptions to homology between E. przewalskii and E. caballus were identified, except for ECA5, a metacentric chromosome with homology to two acrocentric chromosome pairs, EPR23 and EPR24. 2.) The onager (E. hemionus onager, EHO) has a modal diploid chromosome number 2n=56 and a documented chromosome number polymorphism within its population, resulting in individuals with 2n=55. Construction of a comparative gene map of a 2n=55 onager by FISH using 52 BAC probes previously mapped to 40 of 44 E. caballus chromosome arms and ECAX identified multiple chromosome rearrangements between E. caballus and E. h. onager. 3.) A centric fission (Robertsonian translocation) polymorphism has been documented in 5 of the ten extant equid species, namely, E. h. onager, E. h. kulan, E. kiang, E. africanus somaliensis, and E. quagga burchelli. BAC clones containing equine (E. caballus, ECA) genes SMARCA5 (ECA2q21 homologue to human (HSA) chromosome 4p) and UCHL1 (ECA3q22 homologue to HSA4q) were FISH mapped to metaphase spreads for individuals possessing the chromosome number polymorphism. These probes mapped to a single metacentric chromosome and two unpaired acrocentrics showing that the centric fission polymorphism involves the same homologous chromosome segments in each species and has homology to HSA4. These data suggest the polymorphism is either ancient and conserved within the genus or has occurred recently and independently within each species. Since these species are separated by 1-3 million years of evolution, the persistence of this polymorphism would be remarkable and worthy of further investigations.

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Ioannou, Dimitrios. "Multicolour interphase cytogenetics in human sperm and embryos : Chromosome copy number and the relevance of nuclear address." Thesis, University of Kent, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.529412.

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Chaulk, Christine Annie 1964. "Chromosome number, fertility, and mitochondrial genome of backcross populations derived from Medicago sativa x Medicago dzhawakhetica hybrids." Thesis, The University of Arizona, 1989. http://hdl.handle.net/10150/277157.

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Backcross populations (BC) from Medicago sativa L. x M. dzhawakhetica Bordz. hybrids were analyzed for chromosome number, fertility and morphological characteristics. Previously obtained F1 hybrids were recovered when diploid (2n = 2x = 16) M. sativa was crossed with tetraploid (2n = 4x = 32) M. dzhawakhetica. Resulting F1 hybrids were triploid (2n = 3x = 24), completely male sterile and had low levels of female fertility. Subsequent populations were obtained by successive backcrossing to unrelated (4x) M. sativa clones. The BC1 plants were pentaploid (2n = 5x = 40) and both male and female fertile. BC2 populations had chromosome numbers ranging from 2n = 32 to 48, and most plants (94% were male and female fertile. BC3 populations were tetraploid (2n = 32) or near tetraploid (2n = 33) and were morphologically similar to M. sativa. Preliminary analysis of mitochondrial nucleic acids by agarose gel electrophoresis, indicated biparental inheritance of this organelle in the F1 hybrids; however, further analysis provided inconclusive results.

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Song, Lei. "Computational Analysis of Genome-Wide DNA Copy Number Changes." Thesis, Virginia Tech, 2011. http://hdl.handle.net/10919/32462.

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DNA copy number change is an important form of structural variation in human genome. Somatic copy number alterations (CNAs) can cause over expression of oncogenes and loss of tumor suppressor genes in tumorigenesis. Recent development of SNP array technology has facilitated studies on copy number changes at a genome-wide scale, with high resolution. Quantitative analysis of somatic CNAs on genes has found broad applications in cancer research. Most tumors exhibit genomic instability at chromosome scale as a result of dynamically accumulated genomic mutations during the course of tumor progression. Such higher level cancer genomic characteristics cannot be effectively captured by the analysis of individual genes. We introduced two definitions of chromosome instability (CIN) index to mathematically and quantitatively characterize genome-wide genomic instability. The proposed CIN indices are derived from detected CNAs using circular binary segmentation and wavelet transform, which calculates a score based on both the amplitude and frequency of the copy number changes. We generated CIN indices on ovarian cancer subtypesâ copy number data and used them as features to train a SVM classifier. The experimental results show promising and high classification accuracy estimated through cross-validations. Additional survival analysis is constructed on the extracted CIN scores from TCGA ovarian cancer dataset and showed considerable correlation between CIN scores and various events and severity in ovarian cancer development. Currently our methods have been integrated into G-DOC. We expect these newly defined CINs to be predictors in tumors subtype diagnosis and to be a useful tool in cancer research. Master of Science

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Benetkiewicz, Magdalena. "Development and Application of Human Chromosome 22 Genomic Microarray : Chromosome 22-Associated Disorders Analyzed by Array-Based Comparative Genomic Hybridization." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-6272.

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Wu, Elizabeth Xianshi. "X-chromosome inactivation and FMR1 CGG repeat and AGG interspersion number in female newborns conceived by assisted reproductive technologies (ARTs)." Thesis, University of British Columbia, 2012. http://hdl.handle.net/2429/42609.

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Pregnancies derived from in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are associated with increased rates of chromosome abnormalities, congenital malformations, low birth weight, pre-term births, multiple gestations, and imprinting disorders. Assisted reproductive technologies (ARTs) enable sub-fertile individuals to circumvent the natural selective pressures involved in human reproduction. The risks of ARTs may be due to the underlying causes of subfertility in these individuals or to the artificial processes used to achieve pregnancy. X-chromosome inactivation (XCI) may be at risk to perturbations in ARTs as it is thought to occur during the blastocyst stage when in vitro culturing would be taking place. We examined the XCI status in females conceived by ICSI (n=70), IVF (n=68), and naturally (NC, n=42). We found no significant differences between the populations in the frequency of mild skewing (≥75%) or extreme skewing (≥90%), or the mean level of skewing. Two extremely skewed cases were identified (1 IVF and 1 NC). It was determined that the maternal allele was preferentially inactivated in the cord blood of the extremely skewed IVF case. XCI status between placental sites varied in this case, but skewing values tended to correlate between different tissues within the same site. Furthermore, it is possible that infertile individuals are passing on high repeat FMR1 alleles associated with infertility or that repeat expansion could be occurring in subfertile parent’s germlines or during in vitro culturing. We investigated FMR1 CGG repeat and AGG interspersion number in the alleles of females conceived by ICSI (n=36), IVF (n=36), and NC (n=36). We did not find a significant difference between the populations in the frequency of intermediate alleles (45-54 repeats), premutation alleles (55-200 repeats), the mean allele repeat number, the biallelic mean, the distribution of FMR1 genotypes, or the distribution of total AGG interspersion number. No full mutation alleles were observed. A single premutation allele was found in a NC infant. The results indicate that female newborns conceived through ICSI and IVF are not at a greater risk of having skewed XCI or of inheriting FMR1 alleles with higher CGG repeat counts and more instability than female newborns conceived naturally.

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Melloni, Maria Natália Guindalini [UNESP]. "Determinação do número cromossômico de espécies arbóreas nativas com potencial madeireiro." Universidade Estadual Paulista (UNESP), 2010. http://hdl.handle.net/11449/92687.

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Made available in DSpace on 2014-06-11T19:26:09Z (GMT). No. of bitstreams: 0 Previous issue date: 2010-07-05Bitstream added on 2014-06-13T19:54:06Z : No. of bitstreams: 1 melloni_mng_me_jabo.pdf: 575216 bytes, checksum: 964654498d107722386fb35eacc4817a (MD5) Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) O Brasil tem uma flora nativa exuberante, muito explorada e pouco estudada. A economia florestal brasileira tem importante papel na qualidade de vida do país sendo necessárias informações que possibilitem uma exploração mais consciente e sustentável das espécies nativas. Uma das formas de se obter esclarecimentos relevantes a respeito das espécies arbóreas do Brasil é por meio de estudos citogenéticos. Esses estudos cromossômicos podem fornecer informações importantes na taxonomia, evolução, genética, melhoramento de plantas e na preservação dos sistemas florestais. Por meio de técnicas de citogenética convencional estabeleceu-se o número cromossômico diplóide de: Balfourodendron riedelianum, 2n = 58 cromossomos, com tamanho médio dos cromossomos de 1,877μm ± 0,44, Cedrela fissilis, 2n = 56 cromossomos, com tamanho médio dos cromossomos de 1,01μm ± 0,26; Hymenaea courbaril var. stilbocarpa, 2n = 24 cromossomos, com tamanho médio dos cromossomos de 3,52μm ± 0,68 ; Myroxylon peruiferum, 2n=26 cromossomos, com tamanho médio dos cromossomos de 1,25μm ± 0,30; Pterogyne nitens, 2n=20 cromossomos, com tamanho médio dos cromossomos de 1,13μm ± 0,27; Tabebuia aurea, 2n = 40 cromossomos, com tamanho médio dos cromossomos de 1,05μm ± 0,23; T. ochracea , 2n=80 cromossomos, com tamanho médio dos cromossomos de 1,02μm ± 0,22 e C. odorata com variação cromossômica de 2n = 42 a 2n = 104 cromossomos. Os resultados obtidos neste trabalho poderão fornecer suporte para futuras pesquisas de manipulação dos cromossomos, comparação em estudos taxonômicos, estudos evolutivos, produção de progênies híbridas para fins comerciais e melhoramento genético de espécies madeireiras Brazil has a lush native flora, much exploited and little studied. The Brazilian forestry economy has an important role in the life quality of the country being necessary information to enable a more conscious and sustainable exploitation of native species. One way to obtain relevant details about the tree species in Brazil is through cytogenetic studies. These chromosome studies may provide important information on taxonomy, evolution, genetics and plant breeding as also as on the conservation of forest systems. Using conventional cytogenetics techniques the diploid chromosome number was established: Balfourodendron riedelianum, 2n = 58 chromosomes, with the average size of chromosomes 1, 877μm ± 0.44, Cedrela fissilis, 2n = 56 chromosomes, with the average size of chromosomes 1, 01μm ± 0.26; Hymenaea courbaril var. stilbocarpa, 2n = 24 chromosomes, with an average size of the chromosomes of 3.52 μm ± 0.68; Myroxylon peruiferum, 2n = 26 chromosomes, with the average size of chromosomes 1, 25μm ± 0.30; Pterogyne nitens, 2n = 20 chromosomes with average size of chromosomes 1, 13μm ± 0.27, Tabebuia aurea, 2n = 40 chromosomes, with an average size of the chromosomes of 1.05 μm ± 0.23; T. ochracea, 2n = 80 chromosomes, with an average size of the chromosomes of 1.02 ± 0.22 μm and Cedrela odorata with chromosome variation of 2n = 42 to 2n = 104 chromosomes. The results of this study may provide support for future research in chromosome manipulation, comparative taxonomy, evolutionary studies, commercial hybrid seed production and breeding timber species

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LEITE, C. T. "Looking For Influence Of The Chromosome Number, Ploidy Level And nuclear 2c Value On The In Vitro Response In Passiflora Genus." Universidade Federal do Espírito Santo, 2016. http://repositorio.ufes.br/handle/10/7856.

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Made available in DSpace on 2018-08-01T22:57:31Z (GMT). No. of bitstreams: 1 tese_9996_Dissertação de mestrado_Cristiana Torres Leite.pdf: 1087059 bytes, checksum: a830621e53c2439402a16faf39da62b8 (MD5) Previous issue date: 2016-08-31 Assim como para outros taxa, diferente respostas morfogênicas in vitro (organogênese direta / indireta ou embriogênese) foram relatadas para as espécies de Passiflora, utilizando as mesmas condições ambientais in vitro. O número de cromossomos distintos entre algumas espécies do gênero Passiflora tem sido apontado como um possível fator genético relacionado com as diferentes respostas in vitro. Com base nesta hipótese, o presente estudo teve como objetivo avaliar as respostas in vitro de espécies de Passiflora que exibem diferentes números cromossômicos, níveis de ploidia e conteúdo de DNA nuclear para responder a seguinte pergunta: estes aspectos genômicos influenciam à resposta in vitro? Para isso, embriões zigóticos maduros (MZE) de cinco espécies, pertencentes a quatro subgêneros de Passiflora, foram inoculados em meio MS suplementado com 4.4 μM de benzilaminopurina (BAP) e nove concentrações de 2,4-ácido diclorofenoxiacético (4.53 - 144.96 μM 2,4-D). Corroborando com os estudos anteriores, diferentes respostas morfogênicas foram observadas sob as mesmas condições in vitro. Apenas calos friáveis (FC) foram obtidos a partir MZE de Passiflora coriacea Juss (2n = 12 cromossomos, 2C = 1,00 pg), Passiflora lindeniana TR & Planch (2n = 24, 2C = 2.42 pg) e Passiflora contracta Vitta (2n = 48 cromossomos, 2C = 4.78 pg). Plântulas foram recuperadas a partir de MZE de Passiflora foetida L. (2n = 20, 2C = 1.04 pg) e Passiflora miniata Vanderpl. (2n = 18, 2C = 3,40 pg) via organogênese indireta e embriogênese, respectivamente. Como em outros estudos, as plântulas foram regeneradas a partir de embriogênese somática indireta somente para as espécies de Passiflora com 2n = 18 cromossomos (P. 12 miniata). Apesar do número de cromossomos e do nível de ploidia relativamente mais baixo do que em outros taxa de Passiflora, o tamanho do genoma nuclear das espécies com 2n = 18 é relativamente mais elevado. Assim, as mudanças no cariótipo (poliploidia, hibridização e disploidia) que amplamente ocorrem durante a evolução de Passiflora, provavelmente resultaram em número de cópias distintas dos genes relacionados ao processo morfogênico em plantas. Portanto, para o gênero Passiflora é importante olhar simultaneamente algumas características genômicas para compreender as respostas in vitro.

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Gabriel, Alem Selassie. "Cytogenomics of human oocytes and embryos : application of microarrays for the detection of the incidence and orgin of chromosome copy number errors." Thesis, University of Kent, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.544086.

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Hollows, Robert John. "Using data from the cancer genome atlas to analyse DNA methylation and copy number changes in the Y chromosome in male cancers." Thesis, University of Birmingham, 2017. http://etheses.bham.ac.uk//id/eprint/7266/.

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Many human cancers are more prevalent in men than women. This disparity is not fully explained by differences in key risk factor exposures, which suggests a possible genetic cause. Recent research has reported a link between loss of the Y chromosome (LoY) and increased incidence of non-haematological cancers. Using data from The Cancer Genome Atlas, I conducted an integrated, multi-‘omic analysis of Y chromosome methylation and copy number aberrations in three different cancers – colon, head and neck and kidney. My results indicate that aberrant methylation of the Y chromosome is common in all three cancer types. Hyper-methylation occurs in short, discrete regions, interspersed among wider regions of more general hypo-methylation. I also show that LoY is the most common aneuploidy in all three cancers, affecting between one third and one half of patients. Furthermore, both aberrant methylation and LoY are associated with reduced expression of potentially important genes. Most interestingly, for HPV negative head and neck cancer patients, I show a statistically significant association between LoY and worse survival, and that LoY may be linked to smoking. Subject to further validation, this suggests that LoY could be important in the pathogenesis of head and neck cancer for HPV negative patients.

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Nasario, João Paulo Sardin 1990. "Biologia floral, reprodutiva e cariótipos de espécies de Pseudobombax Dugand (Bombacoideae, Malvaceae) do sudeste do Brasil." [s.n.], 2014. http://repositorio.unicamp.br/jspui/handle/REPOSIP/314934.

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Orientador: Eliana Regina Forni Martins Dissertação (mestrado) - Universidade Estadual de Campinas, Instituto de Biologia Made available in DSpace on 2018-08-24T09:37:20Z (GMT). No. of bitstreams: 1 Nasario_JoaoPauloSardin_M.pdf: 1858989 bytes, checksum: 1fd7e7dcb1a5473c4ff7fb12d1cd1a15 (MD5) Previous issue date: 2014 Resumo: Tradicionalmente incluso na extinta família Bombacaceae, Pseudobombax Dugand pertence à subfamília Bombacoideae, Malvaceae sensu lato. Abrange cerca de 29 espécies, das quais 16 ocorrem em território brasileiro e nove são endêmicas. No Brasil, a maioria das espécies é encontrada no sudeste, planalto central e nordeste. As espécies possuem considerável valor comercial, por serem utilizadas no mundo todo, principalmente na ornamentação e arborização urbana. Estudos sobre o sistema reprodutivo e citogenéticos são raros para o gênero. Com este trabalho, objetivou-se o estudo da biologia floral e reprodutiva, assim como a análise cariotípica de três espécies de Pseudobombax da região sudeste do Brasil. As espécies de Pseudobombax são importantes fontes de pólen e néctar para seus visitantes florais, especialmente por florescerem na estação seca. Algumas diferenças foram observadas entre os períodos de floração e frutificação durante os dois anos de estudo, as quais podem estar relacionadas a diferentes quantidades de chuva antes do início da floração. As flores apresentam antese crepuscular/noturna, com características que se encaixam na síndrome da quiropterofilia. As flores de P. tomentosum são significativamente diferentes das demais espécies (maior comprimento da flor, das pétalas, do ovário e do cálice), porém a forma e o indumento dos frutos é a principal característica que podemos utilizar para separar taxonomicamente as três espécies. Os estudos reprodutivos das três espécies evidenciaram alta porcentagem de fecundação cruzada, indicando alogamia. A eficácia reprodutiva manteve-se alta, confirmando a necessidade de polinização cruzada e, consequentemente, de seus polinizadores. As análises citogenéticas mostraram contagens inéditas, com 2n=88 para Pseudobombax sp. (nova) e P. tomentosum e 2n=84 para P. grandiflorum. O número básico sugerido para as espécies de Pseudobombax é x=44. Foi confirmado mais de um número cromossômico no gênero, o que sugere a derivação por disploidia, decorrente de possíveis rearranjos cromossômicos. Pseudobombax sp. (nova) e P. grandiflorum, espécies muitas vezes confundidas entre si, possuem números cromossômicos diferentes (2n=88 e 2n=84, respectivamente) sendo este um caráter adicional importante na separação taxonômica das duas espécies. O bandamento CMA/DAPI evidenciou um padrão conservado dentro do gênero, com seis bandas CMA+ nas três espécies. Os valores métricos dos cromossomos das espécies em estudo indicaram um comprimento do complemento cromossômico pequeno, nas quais o menor tamanho cromossômico foi de 0,3 µm em P. grandiflorum e o maior foi de 3,5 µm em P. tomentosum. O diferente número cromossômico, bem como algumas características morfológicas florais e do fruto podem ser utilizadas na separação taxonômica das três espécies de Pseudobombax em estudo, evidenciando assim a existência de uma nova espécie para o gênero Abstract: Traditionally included in the extinct family Bombacaceae, Pseudobombax Dugand belongs to the Bombacoideae subfamily, Malvaceae sensu lato. Composed by about 29 species, of which 16 occur in Brazilian territory and nine are endemic. In Brazil, most species are found in the southeast, northeastern and central plains. Species have considerable commercial value, for being used worldwide, especially in ornamentation and urban forestry. Studies on the reproductive system and cytogenetics are rare for the genus. This work aimed to study the floral and reproductive biology, as well as analysis of karyotype of three species of Pseudobombax from southeastern Brazil. The Pseudobombax species are important sources of pollen and nectar for their floral visitors, especially by flourishing in the dry season. Some differences were observed between the periods of flowering and fruiting during the two years of study, which may be related to different amounts of rainfall before flowering. The flowers have crepuscular/nocturnal anthesis, with features that fit in the chiropterophily syndrome. The flowers of P. tomentosum are significantly different from the other species (greater length of the flower petals, the ovary and the cup), but the shape and indumentum of the fruit is the main feature that we can use to separate the three species taxonomically. Reproductive studies of the three species showed a high percentage of outcrossing, indicating outcrossing. The reproductive efficiency remained high, confirming the necessity of cross-pollination and, therefore, their pollinators. Cytogenetic analysis showed unprecedented chromosome counts, with 2n=88 to Pseudobombax sp. (new) and P. tomentosum and 2n=84 for P. grandiflorum. The basic chromosome number suggested to Pseudobombax is x=44. We confirmed more than one chromosome number in the genus, which suggests derivation by disploidy, due to possible chromosomal rearrangements. Pseudobombax sp. (new) and P. grandiflorum, species often confused with each other, presented different chromosome numbers (2n=88 or 2n=84 , respectively) which is an important taxonomic character for the separation of the two species. The CMA/DAPI banding showed a conserved pattern within the genus, with six CMA+ bands in all species. The metric values of the chromosomes of the species under study indicated a small chromosomal complement length, wherein the smallest chromosome size was 0.3 µm in P. grandiflorum and the largest was 3.5 µm in P. tomentosum. The different chromosome numbers, as well as some floral and fruit morphological characteristics can be used for taxonomic separation of the three Pseudobombax species under study Pseudobombax, thus revealing the existence of a new species for the genus Mestrado Biologia Vegetal Mestre em Biologia Vegetal

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Melloni, Maria Natália Guindalini. "Determinação do número cromossômico de espécies arbóreas nativas com potencial madeireiro /." Jaboticabal : [s.n.], 2010. http://hdl.handle.net/11449/92687.

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Orientador: José Roberto Moro Banca: Herberte Pereira da Silva Banca: Luciana Rossini Pinto Resumo: O Brasil tem uma flora nativa exuberante, muito explorada e pouco estudada. A economia florestal brasileira tem importante papel na qualidade de vida do país sendo necessárias informações que possibilitem uma exploração mais consciente e sustentável das espécies nativas. Uma das formas de se obter esclarecimentos relevantes a respeito das espécies arbóreas do Brasil é por meio de estudos citogenéticos. Esses estudos cromossômicos podem fornecer informações importantes na taxonomia, evolução, genética, melhoramento de plantas e na preservação dos sistemas florestais. Por meio de técnicas de citogenética convencional estabeleceu-se o número cromossômico diplóide de: Balfourodendron riedelianum, 2n = 58 cromossomos, com tamanho médio dos cromossomos de 1,877μm ± 0,44, Cedrela fissilis, 2n = 56 cromossomos, com tamanho médio dos cromossomos de 1,01μm ± 0,26; Hymenaea courbaril var. stilbocarpa, 2n = 24 cromossomos, com tamanho médio dos cromossomos de 3,52μm ± 0,68 ; Myroxylon peruiferum, 2n=26 cromossomos, com tamanho médio dos cromossomos de 1,25μm ± 0,30; Pterogyne nitens, 2n=20 cromossomos, com tamanho médio dos cromossomos de 1,13μm ± 0,27; Tabebuia aurea, 2n = 40 cromossomos, com tamanho médio dos cromossomos de 1,05μm ± 0,23; T. ochracea , 2n=80 cromossomos, com tamanho médio dos cromossomos de 1,02μm ± 0,22 e C. odorata com variação cromossômica de 2n = 42 a 2n = 104 cromossomos. Os resultados obtidos neste trabalho poderão fornecer suporte para futuras pesquisas de manipulação dos cromossomos, comparação em estudos taxonômicos, estudos evolutivos, produção de progênies híbridas para fins comerciais e melhoramento genético de espécies madeireiras Abstract: Brazil has a lush native flora, much exploited and little studied. The Brazilian forestry economy has an important role in the life quality of the country being necessary information to enable a more conscious and sustainable exploitation of native species. One way to obtain relevant details about the tree species in Brazil is through cytogenetic studies. These chromosome studies may provide important information on taxonomy, evolution, genetics and plant breeding as also as on the conservation of forest systems. Using conventional cytogenetics techniques the diploid chromosome number was established: Balfourodendron riedelianum, 2n = 58 chromosomes, with the average size of chromosomes 1, 877μm ± 0.44, Cedrela fissilis, 2n = 56 chromosomes, with the average size of chromosomes 1, 01μm ± 0.26; Hymenaea courbaril var. stilbocarpa, 2n = 24 chromosomes, with an average size of the chromosomes of 3.52 μm ± 0.68; Myroxylon peruiferum, 2n = 26 chromosomes, with the average size of chromosomes 1, 25μm ± 0.30; Pterogyne nitens, 2n = 20 chromosomes with average size of chromosomes 1, 13μm ± 0.27, Tabebuia aurea, 2n = 40 chromosomes, with an average size of the chromosomes of 1.05 μm ± 0.23; T. ochracea, 2n = 80 chromosomes, with an average size of the chromosomes of 1.02 ± 0.22 μm and Cedrela odorata with chromosome variation of 2n = 42 to 2n = 104 chromosomes. The results of this study may provide support for future research in chromosome manipulation, comparative taxonomy, evolutionary studies, commercial hybrid seed production and breeding timber species Mestre

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Konyukh, Marina. "Copy number variations in autism spectrum disorders : identification and characterization of new candidate genes ( SEZ6L2 ans CNTN3-6)." Paris 7, 2010. http://www.theses.fr/2010PA077235.

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Les troubles du spectre autistique (TSA) sont caractérisés par un déficit de la communication sociale et des comportements stéréotypés. Des études d'agrégation familiales et sur les jumeaux ont indiqué que les TSA ont une composante génétique forte. Récemment, l'étude du génome à grande échelle et à haute résolution a révélé des variations du nombre de copies (CNV). Un des CNV les plus fréquemment observés chez les patients atteints de TSA est la délétion/duplication localisée dans la région chromosomique 16pl 1. 2. Parmi les gènes situés dans ce CNV, des analyses montre que SEZ6L2, pourrait être associé aux TSA. J'ai recherché des mutations dans SEZ6L2 sur un group de 170 patients et sur un panel de 282 personnes de différentes origines ethniques. J'ai trouvé des variations qui sont prédites comme ayant un impact sur la fonction de la protéine, mais ne montrant aucun enrichissement significatif chez les patients comparé aux témoins. J'ai été impliquée dans L'analyse des CNV du génome entier pour des patients atteints de TSA (n=347) et pour des contrôles (n=338). J'ai pu détecter les CNV dans des gènes candidats potentiels, notamment dans les contactines, de protéines impliquées dans le guidage axonal et dans la connexion entre les axones et les cellules gliales. J'ai séquence la partie codante des gènes CNTN3-6 et CNTNAP2 dans des groupes patients et contrôles et j'ai pu identifier des variations rares et une mutation non-sens dans des familles avec TSA. Nos données in vitro, suggèrent que plusieurs variations ont pour conséquence une altération de la morphologie des neurones. Ces résultats confirment le câblage anormal du cerveau comme un facteur de risque pour les TSA Autism spectrum disorders (ASD) are characterised by impaired reciprocal social communication, and stereotyped behaviour. Twin and familial studies have indicated that ASD are among the most genetic neuropsychiatric disorders. Recently, large-scale and high-resolution genome wide analyses revealed multiple copy number variations (CNV). Among the more frequently observed CNV associated with ASD are deletions/duplications, located on chromosome 16pl 1. 2. A primary analysis indicated that SEZ6L2 gene could be associated with ASD. During my thesis, I first screened for mutations in SEZ6L2 in a sample of 170 patients with ASD and in a panel of 282 individuals from different ethnic backgrounds. I was able to find mutations predicted as deleterious, but no significant enrichment compared with controls. I was also involved in the whole genome CNV screening of a large group of ASD patients (n=347) and controls (n=338). Using genome wide analysis, I could detect CNV altering compelling candidate genes. We could identify CNV altering several members of the contactins, a family of proteins involved in axonal guidance and the connection between axons and glial cells. I then screened for coding variations in CNTN3-6 and CNTNAP2. This screening revealed rare variants and a stop mutation present in ASD families. Our in vitro studies suggested that several variations had a functional consequence on neuronal morphology. These results further support abnormal brain wiring as a risk factor for ASD

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Chacon, Pinilla Juliana. "Biogeographic and cytogenetic evolution of the Alstroemeriaceae/Colchicaceae inferred from multi-locus molecular philogenies, fluorescent in situ hybridization data, and probabilistic models of geographic and chromosome number change." Diss., Ludwig-Maximilians-Universität München, 2013. http://nbn-resolving.de/urn:nbn:de:bvb:19-165338.

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Kanaan, Sami barna. "Facteurs de risque liés au chromosome X à l'origine de la prédominance des femmes dans la polyarthrite rhumatoïde." Thesis, Aix-Marseille, 2013. http://www.theses.fr/2013AIXM4112/document.

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Comme dans la plupart des maladies auto-immunes une prédominance féminine est observée dans la polyarthrite rhumatoïde (PR). Le chromosome X, présent en 2 exemplaires chez la femme, est intéressant puisque beaucoup de gènes à fonctions immunitaires y sont localisés. Dans ce travail, nous montrons que certains de ces gènes peuvent augmenter leur nombre de copies quand l'individu vieillit. En outre, cette variation est spécifique au sexe avec une augmentation chez les hommes et l'inverse chez les femmes. D’autre part, alors que généralement les femmes inactivent aléatoirement (50:50) le chromosome X d’origine maternel ou X d’origine paternel, nous montrons un biais d’inactivation (≥ 80:20) chez les femmes atteintes de PR. De plus ce biais est préférentiellement associé à celles qui portent les gènes de susceptibilité à la maladie. Ces résultats soulignent l’importance du chromosome X dans le développement de l’auto-immunité et aident à la compréhension du biais féminin dans ces maladies As in many autoimmune diseases, a female predominance is observed in rheumatoid arthritis (RA). The X chromosome, present in 2 copies in females, is of particular interest as it contains many genes with immune functions. In this work, we show an increase with age in copy number of some X-linked genes in peripheral blood cells of men, healthy or with RA. Importantly, this increase is not observed in women. On the other hand, when in fact females generally randomly inactivate (50:50) either the paternally-derived or the maternally-derived X chromosome, we show a skewed inactivation (≥ 80:20) in women with RA. Moreover this skewing correlates preferentially with women carrying disease susceptibility genes. Altogether, our findings highlight the importance of this fascinating chromosome in the development of autoimmunity in a step forward to better understand female predilection to autoimmune diseases

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Martin, Gabriel. "Facteurs de risques de développer une maladie auto-immune chez les hommes? : cas particulier de la polyarthrite rhumatoïde." Thesis, Aix-Marseille, 2017. http://www.theses.fr/2017AIXM0562/document.

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Peu d’hommes sont touchés par les maladies auto-immunes (MAI), maladies où la réponse immune est très forte et attaque l’hôte. La polyarthrite rhumatoïde (PR), une maladie inflammatoire chronique, suit cette règle avec 3 femmes pour 1 homme atteint. Dans cette thèse, nous analysons les différences en fonction du sexe et les raisons d’un tel biais. D’après des observations chez l’animal, nous nous sommes demandés si les rares hommes atteints de PR ont une augmentation du nombre de copies d’un gène impliqué dans la réponse immune et porté par le chromosome (Chr) X. Contrairement aux femmes, les hommes n’ont qu’un Chr X et de ce fait qu’une copie de ce gène. Cependant, nous avons montré par différentes techniques, que ces patients avaient 10% de cellules portant 2 copies de ce gène, et que cette augmentation venait de cellules ayant 2 Chr X. Nos recherches soulignent l’importance du Chr X dans l’auto-immunité et ouvrent un nouveau champ d'investigation pour les hommes atteints de MAI Few men are affected by autoimmune diseases (AID), diseases where the immune response is very strong and attacks the host. Rheumatoid arthritis (RA), a chronic inflammatory disease, follows this rule with 3 women affected for 1 man. In this thesis, we analyse gender differences and the reasons for such bias. Based on observations in animals, we wondered whether the rare men with RA have an increased copy number of a gene involved in the immune response and carried by the X chromosome (Chr). Unlike women, men have only one X Chr and one copy of this gene. However, we showed by different techniques that these patients had 10% of cells carrying 2 copies of this gene, and that this increase came from cells with 2 X Chr. Our research emphasizes the importance of the X Chr in autoimmunity and opens up a new field of investigation for men with AID

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Henrique, Pamela Pontes 1990. "Investigação de microrrearranjos no cromossomo X pela técnica de MLPA em indivíduos do sexo masculino com deficiência intelectual de causa indeterminada." [s.n.], 2015. http://repositorio.unicamp.br/jspui/handle/REPOSIP/312507.

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Orientadores: Antonia Paula Marques de Faria, Maricilda Palandi de Mello Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas Made available in DSpace on 2018-08-30T05:34:46Z (GMT). No. of bitstreams: 1 Henrique_PamelaPontes_M.pdf: 8320960 bytes, checksum: 1d8ff3e1253bf81cc18b4afd51572860 (MD5) Previous issue date: 2015 Resumo: A deficiência intelectual ligada ao X (DILX) é uma das causas genéticas mais frequentes de deficiência intelectual (DI), ocorrendo em 10 a 12% de todos os homens afetados, provavelmente pelo maior número de genes identificados no cromossomo X em comparação a qualquer segmento autossômico. Cerca de 100 genes seriam determinantes de DILX, porém mesmo com o conhecimento do papel de vários deles, há aspectos a serem elucidados, como a contribuição de cada um na determinação da DI ou ainda as correlações genótipo-fenótipo, cuja análise depende da investigação genética em indivíduos com DI idiopática. Entre os métodos que permitem a investigação molecular dessa condição destaca-se a Multiplex Ligation-dependent Probe Amplification (MLPA) por sua rapidez, sensibilidade e baixo custo. O objetivo do presente estudo foi investigar alterações em genes do cromossomo X pela técnica de MLPA em pacientes do sexo masculino com atraso global do desenvolvimento ou DI de origem indeterminada. Foram investigados 107 indivíduos com o kit SALSA MLPA P106 MRX probemix (MRC-Holland), 104 deles apresentaram resultado na faixa de normalidade e em três foram identificadas alterações do número de cópias interpretadas como duplicações. O paciente P13 apresentou alteração no gene HUWE1, que atua no controle da diferenciação neural e tem mutações descritas em algumas famílias com DI de moderada a grave; no paciente P139 foram identificadas alterações nos genes SCL6A8 e GDI, ambas confirmadas pela análise por Real Time Polymerase Chain Reaction (qPCR); mutações no primeiro são incluídas entre as síndromes de deficiência de creatina, com fenótipos variando de DI leve e atraso de fala até DI grave, convulsões e alterações de comportamento no sexo masculino, enquanto no segundo se associam à DILX inespecífica; já no paciente P39 foi detectada alteração no gene ARX, relacionado a mais de uma condição classificada como DILX sindrômica, que não foi confirmada. Como apenas alguns éxons relacionados à DILX foram investigados, não se afasta a eventual ocorrência de rearranjos localizados em regiões não abordadas pelo kit utilizado. Contudo, a técnica utilizada se mostrou uma opção de custo relativamente baixo e fácil reprodutibilidade, sendo viável para aplicação em algoritmos de investigação da DI. Os resultados reforçam a relevância da DILX entre as causas de DI, justificando a inclusão de testes moleculares específicos para a elucidação diagnóstica dessa condição Abstract: X-linked intellectual disability (XLID) is one of the most frequent genetic causes of intellectual disability (ID), occurring in 10-12% of all affected men, probably because the larger number of identified genes on the X chromosome related to this condition than in any other autosomal segment. Although about 100 genes have been considered as determinant of XLID, the the role of several of these genes remains yet be elucidated despite the knowledge on the function of several of them. For instance, the contribution of each gene in determining the ID and the genotype-phenotype correlation depend on the genetic investigation of affected individuals. The Multiplex Ligation-dependent Probe Amplification (MLPA) is among the methods that allow molecular investigation of this condition because it is rapid and low cost and presents high sensitivity. The aim of this study was to investigate copy number variations in X-linked genes by MLPA technique in males with global developmental delay or ID of undetermined origin. A hundred and seven individuals were investigated using SALSA MLPA P106 MRX kit (MRC-Holland) and alterations were confirmed by Real Time Polymerase Chain Reaction (qPCR). A normal invariant pattern was observed in 104 out of 107 individuals, and three showed variations that have been interpreted as duplications. Patient P13 showed increased signal for HUWE1 gene, which plays a role in the control of neural differentiation. HUWE1 mutations have been described in families with moderate or severe ID. Patient P139 showed increased signals corresponding to regions of SCL6A8 and GDI1 genes. The former is included among genes involved in the creatine deficiency syndrome whose phenotype can range from mild ID and speech delay to severe ID, convulsions and behavior changes in males, and the latter is involved with non-syndromic XLID. Conversely, the variation in ARX gene, which is associated to more than one condition classified as syndromic XLID, observed in MLPA analysis for patient P39 was not confirmed in the qPCR assay. As only a few exons related to XLID were investigated, it does not rule out the possible occurrence of rearrangements located in regions not covered by the kit used. However, the technique employed was an easily reproducible, relatively low cost option, manageable for application in ID research algorithms. The results reinforce the importance of XLID among the causes of ID, justifying the inclusion of specific molecular tests for the laboratory diagnosis of this condition Mestrado Ciencias Biomedicas Mestra em Ciências Médicas

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Chacon, Pinilla Juliana Verfasser], and Susanne S. [Akademischer Betreuer] [Renner. "Biogeographic and cytogenetic evolution of the Alstroemeriaceae/Colchicaceae inferred from multi-locus molecular philogenies, fluorescent in situ hybridization data, and probabilistic models of geographic and chromosome number change / Juliana Chacon Pinilla. Betreuer: Susanne S. Renner." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2013. http://d-nb.info/1047062437/34.

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Taquary, Adriana Maria Antunes. "Tamanho, montagem de novo e anotação do genoma de Dipteryx alata (Leguminosae)." Universidade Federal de Goiás, 2017. http://repositorio.bc.ufg.br/tede/handle/tede/7297.

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No. of bitstreams: 2 Tese - Adriana Maria Antunes Taquary - 2017.pdf: 3216713 bytes, checksum: caeaa4ba73b31eadb6f74040c4bb9b92 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Previous issue date: 2017-04-24 Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - CAPES Fundação de Amparo à Pesquisa do Estado de Goiás - FAPEG Conselho Nacional de Pesquisa e Desenvolvimento Científico e Tecnológico - CNPq In recent years there has been a rapid increase in the availability and quality of sequencing data and with this an explosion of projects of sequencing of the genomes of plants occurred. In this scenario, genomic analyzes have been characterized as efficient to generate genetic information on a large scale, including for non-model species. Dipteryx alata is a non-model tree species endemic to the Cerrado biome belonging to the Leguminosae family. The objectives of this work were to estimate the number of chromosomes and the size of the genome of D. alata, and also assemble and annotate sequences of the genomes organelles and nuclear of the species using Illumina sequencing data. The size of the genome of D. alata was estimated as 1C = 0.825 pg, which corresponds to a haploid genome of 807.2 MB with 2n = 16 chromosomes. Were assembled 275,709 nuclear genomic sequences with N50 equal to 1598, which corresponds to 355MB and 44% of the whole genome. In the nuclear sequences, 21,981 microsatellite regions were annotated, of which 49.3% had dinucleotide motifs, 42.7% trinucleotide motifs and 4% tetranucleotide motifs. Transposable elements (TEs) were found in 39.29% of the sequences analyzed, corresponding to 421,701 TEs. LTR retrotransposons (gypsy and copy) were the most abundant TEs in nuclear sequences. Were annotated 1,431 RNA genes non-translated into proteins, being 176 rRNAs, 189 tRNAs, 477 snRNAs, 8 snoRNAs, 466 miRNAs and 115 lncRNAs. Were annotated also 62,200 protein coding genes with an average size of 1,156 bp. The estimated number of mRNAs transcribed by the set of annotated nuclear genes was 160,450, of which 131,228 showed significant similarity with known sequences and 84,793 were classified functionally in the Gene Ontology terms. A total of 736,787 SNPs and 90,803 InDels were discovered in the nuclear sequences. A mean of 1 SNP was identified for each 189 bp of the genome and the ratio between the transition (Ts) and transversion (Tv) mutations was 1.58. A percentage of 46.5% of the SNPs occurs in the genic context and the effects of the SNPs were annotated mainly in exons and intergenic regions. Were assembled 110 KB of chloroplastid sequences with N50 of 2,384 bp and 327 KB of mitochondrial sequences with N50 of 1,784 bp. Were annotated genes of 3 rRNA, 13 tRNA, 6 miRNA and 20 lncRNA for the chloroplast and genes of 4 rRNA, 26 tRNA, 7 miRNA and 54 lncRNA for the mitochondria. For the chloroplast were predicted 20 protein coding genes with a mean size of 2,374 bp and for mitochondria were predicted 176 genes with a mean size of 1,279 bp. The estimated number of mRNAs transcribed by this gene set was 63 and 525 for chloroplast and mitochondria respectively. Were annotated 39 microsatellite regions and 4 TEs in the chloroplastid sequences and 158 microsatellite regions and 26 TEs in the mitochondrial sequences. This work, which can be considered one of the first genomic studies for Cerrado species, represents a great advance in the knowledge on the structure and organization of the D. alata genome. The obtained results open the way for further genetic and genomic investigation for the species. Nos últimos anos houve um rápido aumento na disponibilidade e qualidade dos dados de sequenciamento e com isso ocorreu uma explosão de projetos de sequenciamento dos genomas de plantas. Nesse cenário, as análises genômicas vêm sendo caracterizadas como eficientes para gerar informações genéticas em larga escala, inclusive para espécies não modelos. Dipteryx alata é uma espécie de árvore não modelo endêmica do bioma Cerrado pertencente à família Leguminosae. Os objetivos deste trabalho foram estimar o número de cromossomos e o tamanho do genoma de D. alata, e também montar e anotar sequências dos genomas organelares e nuclear da espécie usando dados de sequenciamento Illumina. O tamanho do genoma de D. alata foi estimado como 1C = 0.825 pg, o que corresponde a um genoma haplóide de 807.2 MB com 2n=16 cromossomos. Foram montadas 275.709 sequências genômicas nucleares com N50 igual a 1598, o que corresponde a 355MB e 44% do genoma inteiro. Nas sequências nucleares foram anotados 21.981 regiões microssatélites, das quais 49,3% possuem motivos dinucleotídeos, 42,7% trinucleotídeo e 4% tetranucleotídeo. Elementos transponíveis (TEs) foram encontrados em 39,29% das sequências analisadas, o que corresponde a 421.701 TEs. Os retrotransposons LTR (gypsy e copia) foram os TEs mais abundantes nas sequências nucleares. Foram anotados 1.431 genes de RNAs não traduzidos em proteínas, sendo 176 rRNAs, 189 tRNAs, 477 snRNAs, 8 snoRNAs, 466 miRNAs e 115 lncRNAs. Foram anotados também 62.200 genes codificadores de proteínas com tamanho médio de 1.156 pb. O número estimado de mRNAs transcritos pelo conjunto de genes nucleares anotados foi igual a 160.450, dos quais 131.228 apresentaram similaridade significativa com sequências já conhecidas e 84.793 foram classificadas funcionalmente nos termos do Gene Ontology. Um total de 736.787 SNPs e 90.803 InDels foram descobertos nas sequências nucleares. Foi identificada uma média de 1 SNP a cada 189 pb do genoma e a razão entre as mutações de transição (Ts) e transversão (Tv) foi de 1,58. Uma porcentagem de 46,5% dos SNPs ocorreu em contexto gênico e os efeitos dos SNPs foram anotados principalmente em éxons e regiões intergênicas. Foram montados 110 KB de sequências cloroplastidiais com N50 de 2.384 pb e 327 KB de sequências mitocondriais com N50 de 1.784 pb. Foram anotados genes de 3 rRNA, 13 tRNA, 6 miRNA e 20 lncRNA para o cloroplasto e genes de 4 rRNA, 26 tRNA, 7 miRNA e 54 lncRNA para a mitocôndria. Para o cloroplasto foram preditos 20 genes codificantes de proteínas com tamanho médio de 2.374 pb e para a mitocôndria foram preditos 176 genes com tamanho médio de 1.279 pb. O número estimado de mRNAs transcritos por esse conjunto de genes foi igual a 63 e 525 para cloroplasto e mitocôndria, respectivamente. Foram anotados também 39 regiões microssatélites e 4 TEs nas sequências cloroplastidiais e 158 regiões microssatélites e 26 TEs nas sequências mitocondriais. Este trabalho, que pode ser considerado um dos primeiros estudos genômicos para espécies do Cerrado, representa um grande avanço nos conhecimentos sobre a estrutura e a organização do genoma de D. alata. Os resultados obtidos abrem caminho para novas investigações genéticas e genômicas para a espécie.

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Zale, Peter J. "GERMPLASM COLLECTION, CHARACTERIZATION, AND ENHANCEMENT OF EASTERN PHLOX SPECIES." The Ohio State University, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=osu1417694536.

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Hansson, Caisa Marie. "Analysis of Genetic Alterations in Patients Affected with Neurofibromatosis Type 2 and its Associated Tumors." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-6511.

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Buckley, Patrick. "Development and Application of Microarray-Based Comparative Genomic Hybridization : Analysis of Neurofibromatosis Type-2, Schwannomatosis and Related Tumors." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4786.

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33

Mantripragada, Kiran K. "Microarray-Based Comparative Genomic Hybridization in Neurofibromatoses and DiGeorge Syndrome." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5743.

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34

Nunes, De Matos Farminhão João. "Advances in angraecoid orchid systematics in Tropical Africa and Madagascar: new taxa and hypotheses for their diversification." Doctoral thesis, Universite Libre de Bruxelles, 2021. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/321768.

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Les angrecoïdes constituent le groupe d'orchidées épiphytes le plus diversifié dans les Afrotropiques, comprenant environ 800 espèces. Bien que beaucoup d'attention leur aient été porté, certaines énigmes taxonomiques subsistent au sein des angraecoïdes, et les facteurs à l'origine de leur diversification rapide sont encore inconnus. Les angraecoïdes présentent une remarquable diversité en termes du nombre chromosomique, en faisant un système très approprié pour explorer l'impact des changements caryotypiques sur la cladogenèse, les taux de spéciation/extinction et la diversification morphologique dans le contexte des fluctuations climatiques en Afrique tropicale depuis le Miocène. En outre, grâce au large éventail des longueurs d'éperon nectarifère que ces orchidées présentent, elles ont fait l'objet, depuis Darwin, de recherches approfondies dans le cadre des interactions plantes-animaux. Ici, sur base de nouveaux arbres phylogénétiques produits en utilisant ITS-1 ainsi que cinq marqueurs plastidiques et englobant environ 40 % des espèces, nous fournissons un nouveau cadre taxonomique pour les principales lignées d'Angraecinae. De plus, le cadre taxonomique des angraecoïdes est mis à jour avec, notamment, la description de trois nouveaux genres et six nouvelles espèces. Cette nouvelle hypothèse phylogénétique nous a permis d'étudier si les changements des caryotypes et des pollinisateurs ont pu être les moteurs de la radiation évolutive des angraecoïdes. La reconstruction des états ancestraux du nombre chromosomique révèle une histoire caryotypique dominée par la dysploïdie descendante en Afrique tropicale continentale, où environ 90 % des espèces dérivent d'au moins un changement inféré de n = 17–18 à n = 25 au Miocène moyen. L’examen des intervalles de position du nectar par rapport au pollen dans les Afrotropiques a révélé qu'environ 3 % de la flore des angiospermes de Madagascar est probablement pollinisée par des sphinx, alors que cette proportion est d'environ 1,6 % en Afrique continentale. Les nombreux changements de guilde de pollinisateur vers la sphingophilie ayant eu lieu chez les angraecoïdes seraient à l’origine d’environ 31 % des espèces, y compris certaines lignées ayant les taux de spéciation les plus élevés. En dehors du domaine de la sphingophilie, de nouveaux exemples possibles d’ornithophilie, de phalénophilie et de pollinisation par des tipules à long proboscis/microlepidoptères sont discutées. Des perspectives de recherche concernant l'évolution génomique chez les angraecoïdes et l'impact et les mécanismes des changements des sites de fixation des pollinies sont suggérées. Enfin, certaines priorités pour l’observation de nouveaux pollinisateurs sur le terrain et les frontières de l’alpha et bêta-taxonomie chez les angraecoïdes sont présentées. Doctorat en Sciences info:eu-repo/semantics/nonPublished

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SANTOS, Tiago Ribeiro Barros dos. "Os cromossomos holocêntricos de rhynchospora vahl (cyperaceae): Evolução cariotípica e diversidade de sequências satélites." Universidade Federal de Pernambuco, 2016. https://repositorio.ufpe.br/handle/123456789/17678.

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Submitted by Irene Nascimento (irene.kessia@ufpe.br) on 2016-08-12T19:39:07Z No. of bitstreams: 2 license_rdf: 1232 bytes, checksum: 66e71c371cc565284e70f40736c94386 (MD5) Tese_versão_final_biblioteca_português.pdf: 2265965 bytes, checksum: 707851ccf48e28513fc34178bca7c739 (MD5) Made available in DSpace on 2016-08-12T19:39:07Z (GMT). No. of bitstreams: 2 license_rdf: 1232 bytes, checksum: 66e71c371cc565284e70f40736c94386 (MD5) Tese_versão_final_biblioteca_português.pdf: 2265965 bytes, checksum: 707851ccf48e28513fc34178bca7c739 (MD5) Previous issue date: 2016-03-04 Capes Cromossomos holocêntricos apresentam atividade cinetocórica difusa e essa organização favorece, em teoria, rápidas variações cromossômicas numéricas e o acúmulo de DNA satélite (DNAsat) predominantemente nas regiões terminais dos cromossomos. O gênero de plantas Rhynchospora (Cyperaceae), um dos diversos grupos com esse tipo cromossômico, apresenta espécies com cariótipos entre 2n = 4 e 2n = 58, cuja variação é atribuída à poliploidia e a eventos de quebra/fusão, levando a disploidias. Quanto à distribuição de DNAsat, o único relato até o momento revelou uma baixa proporção dessas sequências, com o único repeat identificado (Tyba) associado aos holocentrômeros. Com o intuito de entender como a estrutura centromérica difusa interfere na organização de sequências ao longo do cromossomo e na evolução do cariótipo como um todo, foram realizadas uma análise de reconstrução dos números cromossômicos ancestrais de Rhynchospora em um contexto filogenético e a caracterização de DNAsats em três espécies do gênero. O complemento cromossômico 2n = 10 foi indicado como o mais provável para o ancestral do gênero, tendo sido mantido em diferentes taxa. A maioria dos clados mostrou números estáveis e a homoplasia de cariótipos foi observada em uma frequência relativamente baixa. Os genomas de R. ciliata/R. globosa e R. tenuis apresentaram duas e uma família(s) de DNAsat, respectivamente, com um padrão de condensação típico (blocos condensados em intérfase). Uma localização preferencial nos terminais cromossômicos foi observada apenas para os DNAsat de R. globosa. Três tipos de cromatina foram revelados pela distribuição dessas sequências: (1) associadas à heterocromatina e presente na forma de cromocentros em intérfase e blocos nos cromossomos metafásicos (R. ciliata e R. globosa); (2) compactados em interfase mas parcialmente descondensados em metáfase e não diretamente associados à heterocromatina (R. ciliata e R. tenuis); ou (3) associados aos holocentrômeros (R. ciliata e R. tenuis). De forma geral em Rhynchospora, os eventos de fusão e fissão parecem atuar localmente no remodelamento dos cariótipos e as sequências satélites não mostram uma tendência única de distribuição. A estrutura centromérica difusa, portanto, não determina em larga escala a dinâmica evolutiva dos cromossomos do gênero. Holocentric chromosomes show diffuse kinetochore activity, what would lead to fast evolution of chromosome numbers and a biased distribution of satellite repeats. The plant genus Rhynchospora (Cyperaceae) possesses holocentric chromosomes and shows a large chromosome number variation (2n = 4 to 2n = 58) attributed to polyploidy and frequent fusion/fission events, leading to dysploidy. Regarding satellite repeats (satDNA), the only investigated species showed a low proportion of these sequences, with the single family identified associated to the holocentromeres. In the present work, aiming to better understand how the diffuse centromere organisation could interfere with the distribution of satellite repeats along the chromosomes and with the karyotype evolution as a whole, we combined a reconstruction of Rhynchospora chromosome numbers in a phylogenetic framework and the characterisation of satellite repeats in three selected species. The karyotype with 2n = 10 was suggested as the ancestral state and was maintained in different lineages. Most of the clades showed stable chromosome number and recurrent karyotypes changes (leading to homoplasies) were detected in low frequency. All Rhynchospora species analysed (R. ciliata, R. globosa and R. tenuis) showed a higher diversity of satellite repeats than R. pubera, with most of the repeats showing a typical condensation profile (clustered in interphase). A preferential terminal location on chromosomes was only observed for R. globosa satDNAs. These sequences, however, might represent different chromatin types, organized in distinct ways: (1) associated to the heterochromatin and clustered in interphase and metaphase (identified in R. ciliata and R. globosa only); (2) clustered in interphase but partially decondensed in metaphase and not associated to heterochromatin domains (R. ciliata e R. tenuis); (3) associated to the holocentromeres (R. ciliata e R. tenuis). Taken together, at least for Rhynchospora, fusion/fission events may not act in a broader way in the reshuffling of karyotypes and satellite repeats distribution do not appeared to be biased towards the chromosome termini. A non-localized centromere, therefore, must not constrain, in a large scale, the chromosome evolution of the genus.

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Franchim, Camila Sommerauer. "Detecção de microdeleções do cromossomo Y em pacientes inférteis, comparando os resultados obtidos pelas técnicas de PCR e MLPA." Universidade de São Paulo, 2018. http://www.teses.usp.br/teses/disponiveis/5/5139/tde-05122018-123305/.

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INTRODUÇÃO: O cromossomo Y contém genes primordiais para o desenvolvimento testicular e a espermatogênese. Sua conformação repetitiva predispõe à ocorrência de deleções e duplicações, que tem impacto clínico. As microdeleções nas regiões AZF afetam loci responsáveis pela espermatogênese e são uma das causas mais frequentes de azoospermia e oligozoospermia. Seu diagnóstico tem valor preditivo para o sucesso na recuperação cirúrgica de espermatozoides testiculares em homens azoospérmicos. A técnica utilizada para detectá-las é a reação de polimerização em cadeia (PCR), porém os protocolos divergem entre si, havendo muita variabilidade na incidência destas deleções. À vista disso, sugerimos utilizar a técnica de Amplificação de Múltiplas Sondas dependente de Ligação (MLPA). OBJETIVO: Comparar os resultados obtidos com as técnicas de PCR e MLPA na detecção de microdeleções do cromossomo Y em homens inférteis. RESULTADOS: Analisamos 43 pacientes inférteis (azoospérmicos e oligozoospérmicos) e 40 homens férteis (controle) pelas técnicas de PCR e MLPA. Encontramos 7 deleções por PCR (16,2%) e 9 por MLPA (21%), além de 5 duplicações e um mosaico. DISCUSSÂO: Além das deleções, as duplicações também podem gerar instabilidades nos genes do cromossomo, podendo levar a infertilidade. CONCLUSÕES: Os resultados obtidos por ambas as técnicas revela que a MLPA é uma técnica mais sensível que a técnica de PCR para detectar microdeleções do cromossomo Y INTRODUCTION: The Y chromosome contains several genes responsible for testicular development and spermatogenesis. Its repetitive conformation predisposes this chromosome to deletions and duplications that have clinical impact. Microdeletions in the AZF regions affect loci responsible for spermatogenesis and are one of the most frequent causes of azoospermia and oligozoospermia. This diagnosis may have a predictive value for success in the surgical recovery of testicular spermatozoa in azoospermic men. The gold standard method for this detection is polymerase chain reaction (PCR), but protocols diverge among them, generating a great variability in the incidence of these deletions. PURPOSE: We evaluated another molecular diagnostic method, Multiplex Ligand Probe Dependent Amplification (MLPA), which generates more genomic data (such as duplications and rearrangements) in a single reaction, leading to a better understanding of these patients phenotype. OBJECTIVE: To compare the results obtained with PCR and MLPA techniques in the detection of Y chromosome microdeletions in infertile men. RESULTS: We analyzed 43 infertile patients (azoospermic and oligozoospermic) and 40 fertile men (control) by PCR and MLPA techniques. We found 7 deletions by PCR (16.2%) and 9 by MLPA (21%), in addition to 5 duplications and one mosaic. DISCUSSION: Besides deletions, duplications can also generate instability in the chromosome genes, which may lead to infertility, and it is important being capable to diagnose these alterations with a faster and more effectively method. CONCLUSIONS: The results obtained by both techniques reveal that MLPA is more sensitive than PCR to detect microdeletions of the Y chromosome

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Li, Mingyin. "Anatomische, cytologische und histologische Untersuchungen zur somatischen Variation in verschiedenen Teilklonen von Pelargonium zonale "Kleiner Liebling"." Doctoral thesis, Humboldt-Universität zu Berlin, Landwirtschaftlich-Gärtnerische Fakultät, 2005. http://dx.doi.org/10.18452/15226.

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Die vorliegende Arbeit befasst sich mit den morphologischen bzw. cytologischen Anomalien eines mutierten Klons 5/74/2 aus der haploiden Sorte `Kleiner Liebling` von Pelargonium zonale. An histologischen Schnitten wurden die Ploidiestufen verschiedener Zellschichten von Cytochimären durch Chromosomenzählung direkt bestimmt. Es wurde festgestellt, dass die Epidermis in den Blättern vom Klon 5/74/2 verschiedene Ploidiestufen aufweist. Solche Variabilität trat in den L2- und L3-bürtigen Zellschichten nicht auf. Somit wurde hier erstmals eine Periklinalcytochimäre mit verschiedenen Ploidie in der Epidermis nachgewiesen. Es zeigte aber zwei unterschiedliche Zustände im Sprossscheiteln: Beim ersten sind die Zellen der L1 Polyploidie. Beim zweiten sind die Zellen der L1 haploid. Die Polyploidisierung der Epidermis setzt sich bei dem Wachstum des Blattes fort. Bei den cytologischen Untersuchungen wurden anomale Mitosen mit irregulären Chromsomenanordnungen (multipolare) und mehrkernige Zellen in der Epidermis beobachtet. Als weitere Anomalie traten eingeschnürte Zellkerne in den Epidermiszellen auf. Die Pflanzen mit stark behaarten und gekräuselten Blättern vom Klon 5/74/2 waren nicht stabil. Die Epidermis des gekräuselten und stark behaarten Blattes enthielt wie die des stark behaarten Blattes oder die des gekräuselten Blattes verschiedene Ploidiestufe. Die Epidermiszellen der meisten Pflanzen mit normal glatten Blättern lagen im diploiden Bereich. Die morphologische Kräuselung und Behaarung hing mit dem Auftreten der somatischen Variabilität in Epidermis von Klon 5/74/2 zusammen. Adventivpflanzen mit Hilfe eines modifizierten Mediums aus Kallus von Pelargonium zonale sind in in vitro-Kultur zu regenerieren. Dabei zeigte die Zugabe von Perlit und anschließend PVP die beste Wirkung gegen die Bildung von Polyphenolverbindungen im Pelargonium-Gewebe. TDZ ist einer der effektivsten Wuchsstoffe für die Kallusinduktion und Regeneration der Adventivsprosse bei Pelargonium. Die Blatt- und die Blütenfarbe der Adventivpflanzen aus dem dreifach markierten chimärischen `Weißer Liebling` (WRR, GWG, DHH) stimmten mit dem Genotyp der L1-Zellen überein. Die Stomatalängen der Adventivpflanzen aus dem Klon 5/74/2 (PHH) lagen wie die von `Weißer Liebling` (DHH) meistens im Bereich von diploid, nur selten von tetraploid oder gemischten. Die ursprünglich polyploiden und haploiden Zellen der kultivierten Gewebe traten nach der Regeneration nicht mehr auf. Dies weist auf eine Zellmutation und -selektion während der in vitro-Kultur hin. Aus chimärischen Geweben der GWG- und GGW-Varianten von `Mrs. Pollock` wurden 8,6% Adventivsprosse mit neuen chimärischen Blattmustern regeneriert. Das Ergebnis zeigt, dass die Zellen mindestens in L2 und L3-bürtigen Gewebeschichten der Explantaten zur Regeneration der Adventivsprossen teilgenommen haben. A mutated clone with different ploidy levels in epidermis cells, 5/74/2, of the haploid `Kleiner Liebling` of Pelargonium zonale was investigated to answer the question that how the different ploidy levels were generated. Such a variability did not appear in L2- and L3-derived cells. Consequently, clone 5/74/2 is a periclinal cytochimera with a mixed ploidy epidermis. This type of cytochimera with different ploidy levels in epidermis has not been reported up to now. The epidermis of the blistered leaf or of the hairy leaf is polyploid with different ploidy levels, like the epidermis of the shoots with blistered and hairy leaves. Epidermis cells of normal shoots are diploid. The morphologically blistered leaf surface seems to be the result of a somatic variability in epidermis. Histological investigations of clone 5/74/2 showed two different ways of development of the somatic variability: the cells of the L1 in the apical meristem were already polyploid and the cells in the apical meristem were haploid. Cytological analyses revealed anomalies of the mitosis in epidermis cells of clone 5/74/2. Various irregular chromosomal arrangements (multipolar mitosis) and polynuclear cells were observed. Additionally, nuclei with constrictions were found. Adventitious shoots were successfully regenerated from callus of adult tissue of Pelargonium in vitro on modified medium. The combination of Perlit and PVP showed the best effects against the formation of phenolic substances on Pelargonium tissues during in vitro-culture. TDZ was the most effective substance for callus induction and regeneration of adventitious shoots. The colour of leaves and flowers in the adventitious plants regenerated from tissue of the triply marked chimera ’Weißer Liebling’ (GWG, WRR, DHH) were correlated with the genotype of L1. However, somaclonal variability of ploidy levels was observed. The size of stomata on adventitious plants from the clone 5/74/2 (PHH) was similar to from DHH-tissue, mostly in the range of diploid, only rarely in tetraploid or mixed ploidy. Derivates of the original polyploid and haploid cells of the cultivated tissue were not found. Evidently, cell selection and mutation occurred during the in vitro-culture. 8.6% Adventitious shoots with new chimeral patterns were regenerated from chimeral GWG- and GGW-explants of Pelargonium zonale `Ms. Pollock`. More chimeras from GGW explants were obtained than from GWG explants. This result showed that cells in both L2 and L3 derived tissues of the explants were involved in the regeneration of the adventitious shoots.

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Tacuatiá, Luana Olinda. "Les aspects de la variabilité génétique et cytogénétique, et de la biologie reproductive chez Sisyrinchium micranthum Cav. (Iridaceae) dans le sud du Brésil." Phd thesis, Université Paris Sud - Paris XI, 2012. http://tel.archives-ouvertes.fr/tel-00922984.

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Sisyrinchium micranthum Cav. is an herbaceous plant, one of the rare species of the genus which is described as annual. In Brazil, its distribution occurs throughout the states of Rio Grande do Sul (RS), Santa Catarina (SC), Paraná (PR), São Paulo (SP), and Rio de Janeiro (RJ). The species has a wide morphological variability reported in several studies, and different combinations of morphological features can be observed in the wild. Based on these combinations that characterize various plant profiles, three morphological types have been described as CI, CII and CIII. Sisyrinchium micranthum has three ploidy levels described in the literature whose basic number is x = 8, 2n = 2x = 16, 2n = 4x = 32, and 2n = 6x = 48. To contribute to the knowledge on the taxonomy, reproduction and evolution of the species, this study investigated genetic and cytogenetic characteristics of S. micranthum, as well as aspects of reproductive biology. To study the population genetic structure of S. micranthum in southern Brazil, firstly, nine microsatellite markers were isolated using an enriched genomic library, and characterized in a diploid population. Later, from the analysis of genetic variability with seven markers for 583 plants of 14 sampled sites in the states of RS, SC and PR, populations with individuals of different ploidy levels were observed. An autopolyploid origin was presumed for these polyploids. The gene and allelic diversities were rather similar for most of the accessions. The inbreeding coefficient over all loci showed that S. micranthum exhibited an average excess of heterozygotes (negative inbreeding coefficient value), but the FIS values of individual populations ranged from -0.273 to 0.454. The heterozygote excess could be expected since autopolyploids present polysomic inheritance, which contributes substantially for a high heterozygosity. In addition, the populations were highly structured. The results from the cytogenetic analyses, demonstrated that the variability of S. micranthum is also present in terms of genome organization. Regarding S. micranthum and related species S. laxum Otto ex Sims and S. rosulatum E.P. Bicknell, it was verified that the 18S-26S rDNA varies in number of loci, with a notable reduction of the same in polyploids in relation to diploids, while 5S locus showed a proportional increase in the number of signals as increased ploidy level. The data on genome size (Cx) for the three species studied showed a genome downsizing from diploids to polyploids, and also a small inter and intraspecific variation with respect to the C-value. In terms of reproductive biology, selfing and outcrossing were recorded for the species. Furthermore, crossing between different morphological categories of S. micranthum are compatible as resulted in the formation of fruits. Likewise, the data suggest that S. micranthum and S. laxum do not present complete reproductive isolation. The genetic variability of S. micranthum demonstrated in this study in terms of genetic divergence between populations and variation in rDNA loci number possibly reflect the complex relationship between polyploidy and reproductive aspects of the species.

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Leitão, Filipa Batista Ferreira. "Clinical findings on chromosome 1 copy number variations." Master's thesis, 2021. https://hdl.handle.net/10216/134521.

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Uma grande parte da variabilidade do nosso genoma pode ser atribuída a variações do número de cópias do ADN, nomeadamente deleções e duplicações. A presença destas variações no cromossoma 1, o maior cromossoma humano, é uma causa conhecida de morbilidade. Este estudo tem como objetivo contribuir para o mapa de doenças associadas ao cromossoma 1, através da análise de pacientes com rearranjos neste cromossoma. Foi feita uma seleção transversal, a partir da base de dados do Departamento de Genética da Faculdade de Medicina da Universidade do Porto, dos pacientes que realizaram estudo genético por array-CGH e que obtiveram como resultado alterações do no cromossoma 1 consideradas patogénicas ou provavelmente patogénicas. Foram avaliados os dados clínicos destes pacientes. As alterações genéticas encontradas foram pesquisadas em bases de dados nacionais e internacionais de referência assim como na literatura para classificação e para permitir o estabelecimento de uma correlação entre o genótipo e o fenótipo. De um total de 2516 pacientes incluídos na base de dados, identificámos 24 (0.95%) com variantes no cromossoma 1, 9 patogénicas e 15 provavelmente patogénicas. Estas corresponderam a 6,1% (24/392) do total de variantes patogénicas e provavelmente patogénicas incluídas na base de dados. A região 1q21.1 foi a região com mais alterações genéticas associadas, tanto deleções como duplicações, sendo que algumas destas alterações se estendiam até à região 1q21.2. Este estudo permitiu fortalecer a associação entre alterações genéticas do número de cópias no cromossoma 1 e doenças do neurodesenvolvimento, assim como dismorfismos craniofaciais. Adicionalmente, permitiu reforçar a ideia de que nem sempre será fácil interpretar estas variantes e estabelecer uma associação entre o genótipo e o fenótipo, uma vez que existe um largo espectro entre o que é considerado benigno e o que é claramente patogénico. Copy number variants (CNVs) are a major contribution to genome variability, and the presence of CNVs on chromosome 1 is a known cause of morbidity. The main objective of this study was to contribute for chromosome 1 disease map, through the analysis of patients with chromosome 1 CNVs. A cross-sectional study was performed using the array comparative genomic hybridization (array-CGH) database of the Genetic Department of the Faculty of Medicine. Patients with pathogenic (P) or probably pathogenic (VOUS-PP) CNVs on chromosome 1 were selected for the study. Clinical information was collected for all patients. Databases and related literature were used for genotype-phenotype correlation. From a total of 2516 patients included in the database we identified 24 patients (0.95%) with P (9 patients) or VOUS-PP (15 patients) CNVs on chromosome 1. These CNVs account for 6.1% (24/392 CNVs) of the total P/VOUS-PP CNVs in the database. Most common CNVs found were on 1q21.1-1q21.2 region. This study reinforces the association between chromosome 1 CNVs and neurodevelopmental disorders and craniofacial dysmorphisms. Additionally, it also strengthened the idea that CNVs interpretation is not always a linear task due to the broad spectrum of variants that can be identified between benign and clearly pathogenic CNVs.

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40

Leitão, Filipa Batista Ferreira. "Clinical findings on chromosome 1 copy number variations." Dissertação, 2021. https://hdl.handle.net/10216/134521.

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Uma grande parte da variabilidade do nosso genoma pode ser atribuída a variações do número de cópias do ADN, nomeadamente deleções e duplicações. A presença destas variações no cromossoma 1, o maior cromossoma humano, é uma causa conhecida de morbilidade. Este estudo tem como objetivo contribuir para o mapa de doenças associadas ao cromossoma 1, através da análise de pacientes com rearranjos neste cromossoma. Foi feita uma seleção transversal, a partir da base de dados do Departamento de Genética da Faculdade de Medicina da Universidade do Porto, dos pacientes que realizaram estudo genético por array-CGH e que obtiveram como resultado alterações do no cromossoma 1 consideradas patogénicas ou provavelmente patogénicas. Foram avaliados os dados clínicos destes pacientes. As alterações genéticas encontradas foram pesquisadas em bases de dados nacionais e internacionais de referência assim como na literatura para classificação e para permitir o estabelecimento de uma correlação entre o genótipo e o fenótipo. De um total de 2516 pacientes incluídos na base de dados, identificámos 24 (0.95%) com variantes no cromossoma 1, 9 patogénicas e 15 provavelmente patogénicas. Estas corresponderam a 6,1% (24/392) do total de variantes patogénicas e provavelmente patogénicas incluídas na base de dados. A região 1q21.1 foi a região com mais alterações genéticas associadas, tanto deleções como duplicações, sendo que algumas destas alterações se estendiam até à região 1q21.2. Este estudo permitiu fortalecer a associação entre alterações genéticas do número de cópias no cromossoma 1 e doenças do neurodesenvolvimento, assim como dismorfismos craniofaciais. Adicionalmente, permitiu reforçar a ideia de que nem sempre será fácil interpretar estas variantes e estabelecer uma associação entre o genótipo e o fenótipo, uma vez que existe um largo espectro entre o que é considerado benigno e o que é claramente patogénico. Copy number variants (CNVs) are a major contribution to genome variability, and the presence of CNVs on chromosome 1 is a known cause of morbidity. The main objective of this study was to contribute for chromosome 1 disease map, through the analysis of patients with chromosome 1 CNVs. A cross-sectional study was performed using the array comparative genomic hybridization (array-CGH) database of the Genetic Department of the Faculty of Medicine. Patients with pathogenic (P) or probably pathogenic (VOUS-PP) CNVs on chromosome 1 were selected for the study. Clinical information was collected for all patients. Databases and related literature were used for genotype-phenotype correlation. From a total of 2516 patients included in the database we identified 24 patients (0.95%) with P (9 patients) or VOUS-PP (15 patients) CNVs on chromosome 1. These CNVs account for 6.1% (24/392 CNVs) of the total P/VOUS-PP CNVs in the database. Most common CNVs found were on 1q21.1-1q21.2 region. This study reinforces the association between chromosome 1 CNVs and neurodevelopmental disorders and craniofacial dysmorphisms. Additionally, it also strengthened the idea that CNVs interpretation is not always a linear task due to the broad spectrum of variants that can be identified between benign and clearly pathogenic CNVs.

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Yeh, Yi-Hsing, and 葉怡杏. "Copy number alterations of chromosome 1q in intrahepatic cholangiocarcinoma." Thesis, 2015. http://ndltd.ncl.edu.tw/handle/695ck7.

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碩士 國立中山大學 生物科學系研究所 104 Intrahepatic cholangiocarcinoma (ICC) is relatively infrequent, accounting for 5-15% of primary liver cancer worldwide. The risk factors include chronic inflammatory biliary disease, hepatolithiasis, parasitic biliary infestation, biliary malformations, and viral infection. ICC is an aggressive cancer with a high rate of metastasis and fatality, and poor prognosis. The copy number (CN) alterations have been observed in human solid tumors and known to contribute to the tumorigenesis. The altered chromosomal regions may affect the activities of cancer-related genes. Recurrent copy number gains of 1q has been reported in 64.5 % of hepatocellular carcinoma. RNA expression levels of KIF14 (kinesin family member 14) and TPM3 (tropomyosin 3) are most highly expressed and correlated with copy number status in the amplification of chromosomal 1q. TPM3 and KIF14 have similar function of cytokines, and are associated with cell differentiation. These two molecules may be involved in carcinogenesis, including liver cancer. In our previous study, we found ADAMTSL4 (ADAMTS-like 4), located on 1q21.3, was frequently amplified in combined hepatocellular carcinoma and cholangiocarcinoma. The biological functions of ADAMTSL4 include cellular adhesion, angiogenesis, and patterning of the developing nervous system. Amplification of ADAMTSL4 may be associated with carcinogenesis. Copy number changes of chromosome 1q have not been explored in the ICC. We hypothesize that copy number alterations of chromosome 1q also play a role in ICC. In this study, DNA extraction and quantitative polymerase chain reaction were used to explore CN alterations and expression of target genes and associated mutation in 86 cases of ICC. Our result showed that the CN variations of gain for these three genes were ADAMTSL4 (81.4%, 70 cases), TPM3 (60.5%, 52 cases), and KIF14 (50%, 43 cases), respectively. The CN alterations of ADAMTSL4, TPM3, and KIF14 gene were showed significantly associated with cancer stage and progression free survival of ICC patients. The progression free survival of these 3 genes were p=0.022, p=0.015, and p=0.029 respectively. The genes CN alterations associated with stage were ADAMTSL4 (HR=2.423, p=0.021), TPM3 (HR=2.186, p=0.007), and KIF14 (HR=1.931, p=0.014). We were confident that this project was feasible, and ADAMTSL4, TPM3, and KIF14 gene CN alterations study were very likely shed lights on the molecular pathogenesis of ICC.

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Wu, Min-Han, and 吳旻翰. "Inference of Chromosome-Specific Copy Number Using Population Haplotypes." Thesis, 2010. http://ndltd.ncl.edu.tw/handle/38084864300830968162.

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碩士 國立中正大學 資訊工程所 98 Large structural variations like deletions and duplications are quite common in the human populations. Among these structural variations, copy number variations (CNVs) often occupy regulatory regions of genes. Using array Comparative Genomic Hybridization (aCGH) platform and next-generation sequencing, a number of CNVs are identified in many species. However, because human genome is a diploid, existing methods are limited to detect total copy numbers, rather than individual copy numbers in each of the two homologous chromosomes (called chromosome-specific copy numbers). In this thesis, we developed an algorithm based on linkage disequilibrium between SNPs and CNVs for inferring chromosome-specific copy numbers. Simulation shows that our method is very robust when population CNVs/SNPs deviate from Hardy-Weinberg equilibrium. The algorithm is tested in trio data of Europeans and Africans, and the inferred copy numbers are consistent with Mendelian inheritance in 97% of CNVs. In addition to the diploid configuration of 1/1 copy number, 0/2 diploid configuration are also quite common in the population. This phenomenon may imply 0/2 and 1/1 configurations contribute equally to gene balance.

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"Analysis of aberrant and normal copy-number variation of human chromosome 22." YALE UNIVERSITY, 2008. http://pqdtopen.proquest.com/#viewpdf?dispub=3293411.

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"Characterizing the spectrum of chromosome copy number variants among fetuses with increased nuchal translucency and normal karyotype by chromosome microarray analysis." 2014. http://library.cuhk.edu.hk/record=b6115729.

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目前廣泛應用于胎兒醫學的唐氏綜合症篩查法，即結合早孕期胎兒頸項透明層的超聲檢查，及母體血清生化指標的綜合篩查法。頸項透明層是指在早孕期利用超聲檢測到的胎兒頸后的皮下積水，其作為預測胎兒異常的一項重要“軟指標，其臨床意義，尤其是與胎兒染色體異常及器官結構異常之間的關係，逐漸得到深入的認識，但其形成機制尚未明確。現在已知有一百餘種畸形及遺傳綜合征與胎兒頸項透明層增厚相關，但其染色體異常譜系，尤其是亞顯微的染色體異常仍有待明確。大部分頸項透明層增厚但核型正常的胎兒預後良好，但約3-10%的這部分胎兒會伴有畸形或出生后的神經智力發育缺陷。而傳統核型分析無法檢測到亞顯微的染色體異常，從而無法判斷這部分核型正常卻伴有缺陷的胎兒是否因為這類染色體異常而致病。 微陣列比較基因組雜交芯片作為檢測兒童發育遲緩者及器官結構異常原因的重要手段已廣泛應用于臨床。在染色體核型正常的胎兒中，若伴有器官結構異常的胎兒，5-12%被檢出與該畸形相關的微缺失及微重複；若僅伴有孕婦高齡或唐氏篩查高危，則微缺失及微重複檢出率約1%。 該課題旨在研究頸項透明層增厚但核型正常的胎兒中，染色體拷貝數變異發生的頻率及頻譜；評估微陣列比較基因組雜交芯片在協助臨床判斷胎兒預後中的作用。因此，我們開展該多中心隊列研究，通過納入449例頸項透明層厚度≧3.5 mm但正常核型胎兒的，檢測其染色體拷貝數變異，監測并記錄其圍產、產後及新生兒期情況。微陣列比較基因組雜交芯片總共檢出2.8%的異常拷貝數變異，其大小範圍為0.1 kb至18Mb。在伴有器官結構異常的胎兒組中，異常拷貝數變異檢出率達7.8%。對於頸項透明層厚度≧4.0 mm的胎兒，異常拷貝數變異檢出率可達7.3%。 對於頸項透明層增厚的胎兒，致病拷貝數變異暫未發現特定的頻譜。但，該研究中發現重複的致病拷貝數變異，如22號染色體長臂1區1帶的微重複或微缺失，2號染色體長臂2區2帶的微缺失。未在3號、7號、12號、13號、18號、20號、21號或Y染色體上發現與胎兒頸項透明層增厚相關的致病拷貝數變異。 頸項透明層增厚的胎兒79.3%預後良好；若經微陣列比較基因組雜交芯片未檢出致病拷貝數變異，則81.2%預後良好。如果僅頸項透明層增厚不伴有結構異常的胎兒，經微陣列比較基因組雜交芯片未檢出致病拷貝數變異，則93.5%預後良好。 綜上所述，微陣列比較基因組雜交芯片顯著提高了致病拷貝數變異的檢出率。可考慮將微陣列比較基因組雜交芯片作為頸項透明層厚度≧4.0 mm的胎兒染色體異常檢查的首要方法。對於僅頸項透明層增厚不伴有結構異常的胎兒，且經微陣列比較基因組雜交芯片未檢出致病拷貝數變異，絶大部分預後良好。對於頸項透明層增厚的胎兒，致病拷貝數變異暫未發現特定的頻譜，但發現重複出現的致病拷貝數變異。通過初步的基因本體分析及基因通路分析，神經嵴細胞的分化遷徙功能異常可作為今後研究頸項透明層增厚的病理生理機制的方向。 Measurement of nuchal translucency (NT) has been recognized as a sensitive marker for fetal chromosomal disorders for more than a decade, and is presently used as a routine first-trimester screening test. Although over 100 abnormalities and genetic syndromes have been reported to be associated with increased NT, these associations have not been fully explored and the relevant spectrum of associated submicroscopic chromosomal abnormalities has not been sufficiently investigated. The majority of euploid fetuses with increased NT have a good outcome, but around 3-10% of fetuses present with structural or neurodevelopmental abnormalities postnatally. A range of genetic syndromes has been reported, many of which are linked to submicroscopic chromosomal abnormalities that are typically missed by conventional karyotyping. Microarray-based comparative genomic hybridization (arrayCGH) has been applied as the first-tier diagnostic tool for the evaluation of developmental delay and structural malformations in children. In fetuses with a normal karyotype, microarray analysis revealed clinically relevant deletions or duplications in 5-12% with a structural anomaly and in about 1% of those whose indications were advanced maternal age or positive screening results. The objectives of this study were to delineate the frequency and spectrum of pathogenic chromosome copy number variants (CNVs) among fetuses with increased NT and normal karyotype; to evaluate the role of arrayCGH to predict the prognosis of the high NT fetuses; to explore the genotype-phenotype correlations of increased NT. Therefore, a multi-centre cohort of 449 fetuses with NT ≧3.5 mm and normal karyotype were further investigated by arrayCGH. Antenatal surveillance, pregnancy outcome and paediatric follow up were documented. ArrayCGH detected abnormal CNVs in 2.8% (14 of 449) of the fetuses with high NT; the size of CNVs ranged from 0.1 kb to 18Mb. Among fetuses with major congenital abnormalities the incidence of abnormal CNV reached 7.8% (4 of 51). By adjusting the NT to ≧4.0 mm as the referral indication, 7.3% (14 of 192) of the fetuses would have abnormal arrayCGH results. The spectrum of pathogenic CNVs found associated with increased NT was diverse. However, there were recurrent ones such as the deletions or duplications at chromosomal region 22q11, and deletions in ZEB2. There was no pathogenic CNV related with increased NT found in chromosomes 3, 7, 12, 13, 18, 20, 21, or Y. The total normal outcome rate of euploid fetuses with an increased NT was 79.3%; for fetuses with normal arrayCGH results 81.2% had a normal outcome. In fetuses with isolated increased NT, normal arrayCGH results predict a favorable prognosis of 93.5%. In conclusion, arrayCGH significantly increased the diagnostic yield of pathogenic CNVs. In clinical practice arrayCGH may be considered as the first tier investigation in fetuses with an increased NT more than 4.0 mm. In cases with an isolated increased NT with normal arrayCGH results the pregnancy outcome is likely to be favorable. The spectrum of abnormal CNVs found by arrayCGH is diverse but there are recurrent cases such as del/dup 22q11 and del ZEB2. Our preliminary gene ontology and pathway analysis showed that gene pathways related to neural crest cells may be considered as a future study for physiopathologic mechanisms of NT. Detailed summary in vernacular field only. Detailed summary in vernacular field only. Detailed summary in vernacular field only. Detailed summary in vernacular field only. Detailed summary in vernacular field only. Detailed summary in vernacular field only. Huang, Jin. Thesis (Ph.D.) Chinese University of Hong Kong, 2014. Includes bibliographical references (leaves 106-120). Abstracts also in Chinese.

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Chiang, Shen-Yi, and 江守懿. "The study of chromosome number and pollen formation of Houttuynia cordata Thunb. in Taiwan." Thesis, 2006. http://ndltd.ncl.edu.tw/handle/26969242961233993957.

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碩士 國立中興大學 農藝學系所 94 Thirty-eight Houttuynia cordata Thunb. accessions collected from Taiwan were used as materials. To understand the cytogenetic variation among collected accessions, Chromosome number, pollen formation and the pollen fertility of collection accessions were surveyed. The analysis result indicates that the chromosome number of 38 accessions is ranged from 63 to 90 as same as septuploid, octoploid, enneaploid and decaploid, respective. Included aneuploid with 84 and 85 chromosome. Aneuploid offspring collected from Cheng-gong and euploid offspring collected from Suao both seeded in aneuploid and euploid. In the meiosis process of pollen mother cell, unequal chromosomal segregation and abnormal cytokinesis generated abnormal sporads. Otherwise, I observed the occurrence of cytomixis in pollen mother cell at microspore period. Cytomixis of the frequency among accessions were ranged from 14.25 % to 6.69 %, especially the frequence of accessions collected from Cheng-gong is highest (14.21 %). Pollen fertility of the frequency among accessions were ranged from 4.25 % to 0.19 %, especially the frequence of accessions collected from Taipei II is highest (4.25 %). Finally, the analysis results supports that the variation of chromosome number among 38 assessions collected of H. cordata Thunb. is probably caused by abnormal meiosis and cytomixis.

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VAZAČ, Jan. "Study on the chromosome number in the alveolate alga \kur{Chromera velia} by TSA-FISH." Master's thesis, 2015. http://www.nusl.cz/ntk/nusl-201548.

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This thesis is focused on the chromosome-number studies in alveolate alga C. velia. This Apicomplexa-related photosynthetic organism proved to be a unique instrument for the study of Apicomplexa and their unique organelle apicoplast. To better understand the similarities and differences within these two phyla, a further chromosome analysis was needed. The first part of this thesis sums up the present knowledge about ploidy, life cycle and genome organization within C. velia and the close-relative phyla of Apicomplexa and Dinoflagellata. The second part describes our attempt to examine the ploidy and total number of chromosomes in C. velia using fluorescence in situ hybridization. The ploidy of C. velia was successfully determined and we also made a significant progress in the determination of the total chromosome number. (max. 4000 znaků)

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47

Cr��mieux, Lis��ele. "Seed protein and chromosome number anaylses of experimental wheat x jointed goatgrass (Aegilops cylindrica Host) hybrid derivatives." Thesis, 2000. http://hdl.handle.net/1957/32793.

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The occurrence of seed-producing wheat x jointed goatgrass hybrids in infested wheat fields suggests the possibility of gene flow between the two species. This study investigates 'Madsen' wheat x jointed goatgrass F�� and reciprocal backcross derivatives produced in experimental field plantings. Electrophoresis of the high molecular weight (HMW) glutenin seed proteins, chromosome counts, and morphological studies were used to better understand the genetics of these hybrids, and to provide a baseline for evaluating hybrids collected in natural populations. The HMW glutenin profiles are a useful diagnostic tool because the banding patterns, in the 68-120 kDa molecular weight range, are species-unique (three bands for goatgrass, four bands for wheat) and can be used to trace parentage in the hybrid seed on the basis of band contribution. Experimental hybrids show considerable diversity in banding profiles (9 patterns of three to six bands). Diversity in number of different glutenin profiles and number of subunits per seed decreases in more advanced generations (BC�� and BC��S��). Chromosome counts confirm the direction of the crosses and vary as follows: 35 chromosomes for F��; 36 to 57 for BC��; 28 to 49 for BC��; and 33 to 52 for BC��S��. A chromosome number of 28 suggests that jointed goatgrass (2n=4x=28) was the recurrent backcross pollen donor, while numbers closer to 42 and above point to wheat (2n=6x=42) as the pollen donor. Partial female fertility was found in all generations, as well as full self-fertility in BC�� and BC��S�� plants. Analysis of the HMW glutenin profiles of the progeny seeds verifies that hybridization can go in either direction, with most banding patterns similar to either jointed goatgrass or wheat. The resulting potential for gene flow from wheat to jointed goatgrass calls for continued study of these hybrid derivatives. Graduation date: 2001

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Costa, Catarina Pedrosa Martins da. "Emerging genetic alterations linked to male infertility: X-chromosome Copy Number Variation and Spermatogenesis regulatory genes' expression." Master's thesis, 2017. https://hdl.handle.net/10216/104309.

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Costa, Catarina Pedrosa Martins da. "Emerging genetic alterations linked to male infertility: X-chromosome Copy Number Variation and Spermatogenesis regulatory genes' expression." Dissertação, 2017. https://repositorio-aberto.up.pt/handle/10216/104309.

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50

Gonçalves, Ana Carla Ramos da Silva. "Taxonomic revision of the genus Calendula L. (Asteraceae - Calenduleae) in the Iberian Peninsula and Morocco." Doctoral thesis, 2018. http://hdl.handle.net/10773/24063.

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The genus Calendula L. (Asteraceae - Calenduleae) includes, depending on the author, 10 to 25 species, distributed mainly in the Mediterranean basin. The taxonomy of this genus is considered to be extremely difficult, due to a great morphological variability, doubtfull relevance of some of the characters used to distinguish its species (e.g. the life form: annual or perennial; the habit: erect or diffuse, shape of the leaves, indumentum, relative size of the capitula and colour of disc or ray florets, achene morphology), but also due to the hybridization and polyploidization. Despite the numerous studies that have been published, no agreement on the classification and characters used to discriminate between taxa has been reached. A taxonomic study of the genus Calendula was conducted for the Iberian Peninsula and Morocco, aiming at (1) access the morphological variability between and within taxa, (2) confirm the chromosome numbers, (3) increase the nuclear DNA content estimations, (4) re-evaluate taxa delimitations and circumscription, and (5) reassess, and redefine, the descriptions and characters useful to distinguish taxa. In order to achieve a satisfying taxonomic core, extensive fieldwork, detailed morphometric analysis, chorological, karyological and genome size studies were conducted. For the Iberian Peninsula, four species were recognized, including nine subspecies (between these two new subspecies were described). For Morocco, including some taxa from Algeria and Tunisia 13 species were recognized (two new species and a nomenclatural change), including 15 subspecies (among these eight new subspecies were described). To corroborate the results obtained and to evaluate the evolutionary relationships among taxa, phylogenetic studies using molecular methods, such as ITS, microsatellites or other molecular markers, should be used. O género Calendula L. (Asteraceae - Calenduleae) inclui, dependendo do autor, 10 a 25 espécies, distribuídas essencialmente na bacia do Mediterrâneo. A taxonomia deste género é considerada extremamente difícil, devido à grande variabilidade morfológica, discutivel relevância de alguns dos caracteres utilizados para distinguir suas espécies (por exemplo, a forma de vida: anual ou perene, o hábito: erecto ou difuso, a forma das folhas, o indumento, o tamanho e a cor dos capítulos e a morfologia dos aquénios), mas também devido à hibridização e poliploidização. Apesar dos inúmeros estudos que foram publicados, não foi alcançado um acordo sobre a classificação e os caracteres utilizados para discriminar as suas espécies. Um estudo taxonómico do género Calendula foi realizado para a Península Ibérica e Marrocos, com o objectivo de (1) verificar a variabilidade morfológica, (2) confirmar o número de cromossomas, (3) aumentar as estimativas de conteúdo em ADN, (4) reavaliar a delimitação e a circunscrição dos taxa, e (5) reavaliar e redefinir as descrições e caracteres úteis para os distinguir. Para alcançar uma robustês taxonómica satisfatória, foram realizados extensos trabalhos de campo, análise morfométrica detalhada, abordagens corológicas, cariológicas e quanto ao conteúdo em ADN. Para a Península Ibérica, quatro espécies foram reconhecidas, incluindo nove subespécies (entre essas duas novas subespécies foram descritas). Para Marrocos, incluindo alguns taxa da Argelia e Tunisia, foram reconhecidas 13 espécies (duas novas e uma mudança nomenclatural), incluindo 15 subespécies (entre essas oito novas subespécies foram descritas). Para corroborar os resultados obtidos e avaliar as relações evolutivas e filogenéticas entre os taxa, estudos que utilizem diferentes métodos moleculares, tais como ITS, microsatélites ou outros marcadores moleculares, devem ser utilizados. Apoio financeiro do Laboratório Associado CESAM - Centro de Estudos do Ambiente e do Mar (AMB/50017) financiado por fundos nacionais através da FCT/MCTES e cofinanciado pelo FEDER (POCI-01-0145-FEDER-007638), no âmbito do Acordo de Parceria PT2020, e Compete 2020 Programa Doutoral em Biologia

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