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1
Kubaláková, M., M. Valárik, J. Barto, J. Vrána, J. Cíhalíková, M. Molnár-Láng, and J. Dolezel. "Analysis and sorting of rye (Secale cereale L.) chromosomes using flow cytometry." Genome 46, no. 5 (October 1, 2003): 893–905. http://dx.doi.org/10.1139/g03-054.
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Procedures for chromosome analysis and sorting using flow cytometry (flow cytogenetics) were developed for rye (Secale cereale L.). Suspensions of intact chromosomes were prepared by mechanical homogenization of synchronized root tips after mild fixation with formaldehyde. Histograms of relative fluorescence intensity obtained after the analysis of DAPI-stained chromosomes (flow karyotypes) were characterized and the chromosome content of the DNA peaks was determined. Chromosome 1R could be discriminated on a flow karyotype of S. cereale 'Imperial'. The remaining rye chromosomes (2R7R) could be discriminated and sorted from individual wheatrye addition lines. The analysis of lines with reconstructed karyotypes demonstrated a possibility of sorting translocation chromosomes. Supernumerary B chromosomes could be sorted from an experimental rye population and from S. cereale 'Adams'. Flow-sorted chromosomes were identified by fluorescence in situ hybridization (FISH) with probes for various DNA repeats. Large numbers of chromosomes of a single type sorted onto microscopic slides facilitated detection of rarely occurring chromosome variants by FISH with specific probes. PCR with chromosome-specific primers confirmed the identity of sorted fractions and indicated suitability of sorted chromosomes for physical mapping. The possibility to sort large numbers of chromosomes opens a way for the construction of large-insert chromosome-specific DNA libraries in rye.Key words: chromosome isolation, chromosome sorting, fluorescence in situ hybridization, repetitive DNA sequences, wheat-rye addition lines, B chromosomes, physical mapping.
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Muratova, E. N., T. S. Sedel’nikova, A. V. Pimenov, and O. V. Goryachkina. "Karyological and cytogenetic research of the conifers of boreal zone by classic and new methods." Faktori eksperimental'noi evolucii organizmiv 25 (August 30, 2019): 74–79. http://dx.doi.org/10.7124/feeo.v25.1142.
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Aim. Establishing of karyological features and conducting of cytogenetic analysis on conifer plants for biological diversity studies, solving of problems of taxonomics, evolutionary and population genetics. Methods. Classic methods with acetohematoxylin staining of slides and fluorescent in situ hybridization (FISH). Results. More than 150 populations and provenances of representatives of different conifer genera from the Pinaceae and Cupressaceae families were studied. The studies were carried out in natural populations and during the introduction, in optimal and extreme conditions, in disturbed ecosystems, botanical gardens and parks; in addition, various intraspecific forms have been studied. The variability of chromosome numbers and a wide range of chromosomal mutations have been revealed. Fluorescence in situ hybridization (FISH) with the 45S and 5S ribosomal RNA gene probes and DAPI staining allows to identify of homologous chromosome pairs in the karyotypes of conifers and to facilitate the comparative karyotype analysis of these species. Conclusions. The studies of chromosomes in species of the Pinaceae and Cupressaceae families showed a karyotypic diversity and chromosomal anomalies in extreme conditions and under introduction. The use of molecular cytogenetic markers made it possible to obtain new information on the structure of conifer chromosomes.
Keywords: chromosomes, nucleolar loci, chromosome mutations, Pinaceae, Cupressaceae.
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Gokhman, Vladimir E. "Chromosomes of parasitic wasps of the superfamily Chalcidoidea (Hymenoptera): An overview." Comparative Cytogenetics 14, no. 3 (August 25, 2020): 399–416. http://dx.doi.org/10.3897/compcytogen.v14i3.56535.
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An overview of the current knowledge of chromosome sets of the parasitoid superfamily Chalcidoidea is given. Karyotypes of approximately 240 members of this group, i.e. just above one percent of described species, are studied up to now. Techniques for obtaining and analyzing preparations of chalcid chromosomes are outlined, including the so-called “traditional” and “modern” methods of differential staining as well as fluorescence in situ hybridization (FISH). Among the Chalcidoidea, the haploid chromosome number can vary from n = 3 to n = 11, with a clear mode at n = 6 and a second local maximum at n = 10. In this group, most chromosomes are either metacentric or submetacentric, but acrocentrics and/or subtelocentrics also can predominate, especially within karyotypes of certain Chalcidoidea with higher chromosome numbers. The following main types of chromosomal mutations are characteristic of chalcid karyotypes: inversions, fusions, translocations, polyploidy, aneuploidy and B chromosome variation. Although karyotype evolution of this superfamily was mainly studied using phylogenetic reconstructions based on morphological and/or molecular characters, chromosomal synapomorphies of certain groups were also revealed. Taxonomic implications of karyotypic features of the Chalcidoidea are apparently the most important at the species level, especially among cryptic taxa.
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Liu, Guangxin, Xiaoling Zhang, Yue Lan, Haoyang Xin, Fengrong Hu, Zhuhua Wu, Jisen Shi, and Mengli Xi. "Karyotype and Fluorescence In Situ Hybridization Analysis of 15 Lilium Species from China." Journal of the American Society for Horticultural Science 142, no. 4 (July 2017): 298–305. http://dx.doi.org/10.21273/jashs04094-17.
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Karyotype comparison and fluorescence in situ hybridization (FISH) were conducted to analyze the wild Lilium species distributed in China. The karyotype results revealed that all species except Lilium lancifolium (2n = 3X = 36) were diploid and had two pairs of metacentric or submetacentric chromosomes. The karyotypes of all species are similar. FISH analysis revealed that there are 5–12 45S rRNA gene loci dispersed on the chromosomes of the 14 diploid species, and 15 45S rRNA gene loci were detected in the triploid species L. lancifolium. Most of the FISH signals were detected on the long arms and the centromeric regions. Three samples of L. brownii [Hubei, China (lat. 31°28′N, long. 110°23′E); Liaoning, China (lat. 40°07′N, long. 124°19′E); and Guangxi, China (lat. 25°06′N, long. 107°27′E)] showed very similar chromosome patterns in both the karyotype and the FISH analyses, further demonstrating that these samples belonged to the same species. L. brownii is widely distributed in China from latitude 25°06′N to 40°07′N, indicating that it is highly adaptable to the environment.
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Kamstra, Silvan A., Anja G. J. Kuipers, Marjo J. De Jeu, M. S. Ramanna, and Evert Jacobsen. "Physical localisation of repetitive DNA sequences in Alstroemeria: karyotyping of two species with species-specific and ribosomal DNA." Genome 40, no. 5 (October 1, 1997): 652–58. http://dx.doi.org/10.1139/g97-086.
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Fluorescence in situ hybridization (FISH) was used to localise two species-specific repetitive DNA sequences, A001-I and D32-13, and two highly conserved 25S and 5S rDNA sequences on the metaphase chromosomes of two species of Alstroemeria. The Chilean species, Alstroemeria aurea (2n = 16), has abundant constitutive heterochromatin, whereas the Brazilian species, Alstroemeria inodora, has hardly any heterochromatin. The A. aurea specific A001-I probe hybridized specifically to the C-band regions on all chromosomes. The FISH patterns on A. inodora chromosomes using species-specific probe D32–13 resembled the C-banding pattern and the A001-I pattern on A. aurea chromosomes. There were notable differences in number and distribution of rDNA sites between the two species. The 25S rDNA probe revealed 16 sites in A. aurea that closely colocalised with A001-I sites and 12 in A. inodora that were predominantly detected in the centromeric regions. FISH karyotypes of the two Alstroemeria species were constructed accordingly, enabling full identification of all individual chromosomes. These FISH karyotypes will be useful for monitoring the chromosomes of both Alstroemeria species in hybrids and backcross derivatives.Key words: Alstroemeria, fluorescence in situ hybridization, FISH, repetitive DNA, ribosomal DNA, karyotype.
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Li, Jianyong, Jinlan Pan, Bing Xiao, Li Ma, Hairong Qiu, Li Li, Wei Xu, Yongquan Xue, and Changgeng Ruan. "Multiplex Fluorescence In Situ Hybridization (M-FISH) in the Detection of Complex Karyotypic Abnormalities of Acute Myeloid Leukemia and Myelodysplastic Syndromes." Blood 106, no. 11 (November 16, 2005): 4504. http://dx.doi.org/10.1182/blood.v106.11.4504.4504.
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Abstract The complex chromosome abnormalities (CCAs) were one of the most important poor prognostic risk factors in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). Chromosome analysis using classical cytogenetic banding techniques fails to completely resolve complex karyotypes and cryptic translocations. The technique of multiplex fluorescence in situ hybridization (M-FISH) allow for the simultaneous visualization of all chromosomes of a metaphase in a single hybridization step and thereby enable to comprehensively analyze complex karyotypes and the identification of new and cryptic translocations. To investigate the value of M-FISH in the detection of complex karyotypic abnormalities of AML and MDS. M-FISH was used in combination with interphase-FISH to study 24 cases of AML and MDS with CCAs showed by R-banding of conventional cytogenetics (CC). In 14 cases of AML with CCAs, 4 gains of whole chromosome and 4 losses of whole chromosome were confirmed by M-FISH, while 12 losses of whole chromosome were revised as derivative chromosomes resulted from various structural aberrations. 26 derivative chromosomes and 19 marker chromosomes were characterized precisely by M-FISH. Most of them were unbalanced translocations, including 2 complex t(8;21), which have not been previously described:t(8;21), der(8) t(8;21) (8pter→8q22::21q22→21qter), der(21) t(8;21;8) (8qter→ 8q22::21p13→ 21q22::8q22→ 8qter) and t(21;8;18;1), der(8) t(8;21) (8pter→ 8q22::21q22→ 21qter), der(21) t(21;8;18;1) (21p13→ 21q22::8q22→ 8q24::18?::1q?q?). In 10 cases of MDS, 37 kinds of structural rearrangements were detected by M-FISH including insertion, deletion, translocation and derivative chromosomes, and among them 34 kinds were unbalanced rearrangements, only 3 were balanced rearrangements including t(6;22)(q21;q12), t(9;19)(q13;p13) and t(3;5)( ?;?), 7 abnormalities were never reported before. The CCAs invloved nearly all chromosomes, of which the chromosome 17, 5 and 7 were invloved more frequent than the rest. Chromosomes 5, 17, 7 were involved in 15 cases (62.5%), 12 cases (50%) and 6 cases (25%) respecrively. We conclude that M-FISH could refine CCAs of AML and MDS patients, find or correct the missed or misidentified aberrations by CC analysis. Our findings confirm that M-FISH is a powerful tool to characterize complex karyotypes in AML and MDS.
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Silva, Silvokleio da Costa, Sandra Mendes, Thallitha Régis, Orlando Sampaio Passos, Walter dos Santos Soares Filho, and Andrea Pedrosa-Harand. "Cytogenetic Map of Pummelo and Chromosome Evolution of True Citrus Species and the Hybrid Sweet Orange." Journal of Agricultural Science 11, no. 14 (August 31, 2019): 148. http://dx.doi.org/10.5539/jas.v11n14p148.
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Pummelo (Citrus maxima) is considered as one of the true citrus species. Together with mandarin (C. reticulata), it gave rise to the hybrid sweet orange (C. sinensis) and other important citrus crops. Although these species have 2n = 18, each has a unique heterochromatin distribution. The aims of this study were to identify chromosome homoeologies between pummelo and other true citrus species, to investigate the karyotypic changes involved in the chromosomal evolution between true citrus and to shed light into the origin of sweet orange hybrid karyotype. Mitotic metaphase chromosomes of pummelo and sweet orange were double stained with the fluorochromes CMA/DAPI (Chromomycin A3/4’-6-diamidino-2-phenylindole), and identified by FISH (Fluorescence in Situ Hybridization) with chromosome-specific BAC (Bacterial Artificial Chromosome) markers. The results were compared to previously established cytogenetic maps of mandarin, C. medica and Poncirus trifoliata. Only chromosomes 1, 4 and 8 were maintained unaltered among species, with chromosomes 2 and 3 being among the least conserved in heterochromatin distribution. BACs were conserved in position among homoeologs and the markers mapped to chromosomes 2 and 3 indicated that sweet orange karyotype largely conserved one chromosome from pummelo and one from mandarin. Despite conserved synteny, expansion and contraction of heterochromatic blocks accounted for the differences between karyotypes, even between the hybrid sweet orange and pummelo.
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Dulz, Thais Aparecida, Carla Andrea Lorscheider, Viviane Demetrio Nascimento, Rafael Bueno Noleto, Orlando Moreira-Filho, Viviane Nogaroto, and Marcelo Ricardo Vicari. "Comparative cytogenetics among Leporinus friderici and Leporellus vittatus populations (Characiformes, Anostomidae): focus on repetitive DNA elements." Comparative Cytogenetics 13, no. 2 (April 5, 2019): 105–20. http://dx.doi.org/10.3897/compcytogen.v13i2.33764.
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Anostomidae are a neotropical fish family rich in number of species. Cytogenetically, they show a conserved karyotype with 2n = 54 chromosomes, although they present intraspecific/interspecific variations in the number and chromosomal location of repetitive DNA sequences. The aim of the present study was to perform a comparative description of the karyotypes of two populations of Leporinusfriderici Bloch, 1794 and three populations of Leporellusvittatus Valenciennes, 1850. We used conventional cytogenetic techniques allied to fluorescence in situ hybridization, using 18S ribosomal DNA (rDNA) and 5S rDNA, a general telomere sequence for vertebrates (TTAGGG)n and retrotransposon (RTE) Rex1 probes. The anostomids in all studied populations presented 2n = 54 chromosomes, with a chromosome formula of 32m + 22sm for L.friderici and 28m + 26sm for L.vittatus. Variations in the number and location of the 5S and 18S rDNA chromosomal sites were observed between L.friderici and L.vittatus populations and species. Accumulation of Rex1 was observed in the terminal region of most chromosomes in all populations, and telomere sequences were located just on all ends of the 54 chromosomes in all populations. The intraspecific and intergeneric chromosomal changes occurred in karyotype differentiation, indicating that minor chromosomal rearrangements had present in anostomid species diversification.
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Zhang, Siyu, Minqiu Zhu, Yi Shang, Jiaqi Wang, Dawadundup, Lifang Zhuang, Jinlong Zhang, Chenggen Chu, and Zengjun Qi. "Physical organization of repetitive sequences and chromosome diversity of barley revealed by fluorescence in situ hybridization (FISH)." Genome 62, no. 5 (May 2019): 329–39. http://dx.doi.org/10.1139/gen-2018-0182.
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Fluorescence in situ hybridization (FISH) using oligonucleotides is a simple and convenient method for chromosome research. In this study, 34 of 46 previously developed oligonucleotides produced signals in barley. Together with two plasmid clones and one PCR-amplified cereal centromere repeat (CCS1) probe, 37 repetitive sequences were chromosomally located produced three types of signals covering different positions on the chromosomes. The centromeric and pericentric regions had a more complex genomic organization and sequence composition probably indicative of higher contents of heterochromatin. An efficient multi-plex probe containing eight oligonucleotides and a plasmid clone of 45S rDNA was developed. Thirty-three barley karyotypes were developed and compared. Among them, 11 irradiation-induced mutants of cultivar 08-49 showed no chromosomal variation, whereas 22 cultivar and landrace accessions contained 28 chromosomal polymorphisms. Chromosome 4H was the most variable and 6H was the least variable based on chromosome polymorphic information content (CPIC). Five polymorphic chromosomes (1H-2, 2H-1, 3H-3, 5H-2, and 6H-2) were dominant types, each occurring in more than 50% of accessions. The multi-plex probe should facilitate identification of further chromosomal polymorphisms in barley.
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Oliveira, Vanessa C. S., Marie Altmanová, Patrik F. Viana, Tariq Ezaz, Luiz A. C. Bertollo, Petr Ráb, Thomas Liehr, et al. "Revisiting the Karyotypes of Alligators and Caimans (Crocodylia, Alligatoridae) after a Half-Century Delay: Bridging the Gap in the Chromosomal Evolution of Reptiles." Cells 10, no. 6 (June 5, 2021): 1397. http://dx.doi.org/10.3390/cells10061397.
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Although crocodilians have attracted enormous attention in other research fields, from the cytogenetic point of view, this group remains understudied. Here, we analyzed the karyotypes of eight species formally described from the Alligatoridae family using differential staining, fluorescence in situ hybridization with rDNA and repetitive motifs as a probe, whole chromosome painting (WCP), and comparative genome hybridization. All Caimaninae species have a diploid chromosome number (2n) 42 and karyotypes dominated by acrocentric chromosomes, in contrast to both species of Alligatorinae, which have 2n = 32 and karyotypes that are predominantly metacentric, suggesting fusion/fission rearrangements. Our WCP results supported this scenario by revealing the homeology of the largest metacentric pair present in both Alligator spp. with two smaller pairs of acrocentrics in Caimaninae species. The clusters of 18S rDNA were found on one chromosome pair in all species, except for Paleosuchus spp., which possessed three chromosome pairs bearing these sites. Similarly, comparative genomic hybridization demonstrated an advanced stage of sequence divergence among the caiman genomes, with Paleosuchus standing out as the most divergent. Thus, although Alligatoridae exhibited rather low species diversity and some level of karyotype stasis, their genomic content indicates that they are not as conserved as previously thought. These new data deepen the discussion of cytotaxonomy in this family.
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Roco, Álvaro S., Thomas Liehr, Adrián Ruiz-García, Kateryna Guzmán, and Mónica Bullejos. "Comparative Distribution of Repetitive Sequences in the Karyotypes of Xenopus tropicalis and Xenopus laevis (Anura, Pipidae)." Genes 12, no. 5 (April 21, 2021): 617. http://dx.doi.org/10.3390/genes12050617.
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Xenopus laevis and its diploid relative, Xenopus tropicalis, are the most used amphibian models. Their genomes have been sequenced, and they are emerging as model organisms for research into disease mechanisms. Despite the growing knowledge on their genomes based on data obtained from massive genome sequencing, basic research on repetitive sequences in these species is lacking. This study conducted a comparative analysis of repetitive sequences in X. laevis and X. tropicalis. Genomic in situ hybridization (GISH) and fluorescence in situ hybridization (FISH) with Cot DNA of both species revealed a conserved enrichment of repetitive sequences at the ends of the chromosomes in these Xenopus species. The repeated sequences located on the short arm of chromosome 3 from X. tropicalis were not related to the sequences on the short arm of chromosomes 3L and 3S from X. laevis, although these chromosomes were homoeologous, indicating that these regions evolved independently in these species. Furthermore, all the other repetitive sequences in X. tropicalis and X. laevis may be species-specific, as they were not revealed in cross-species hybridizations. Painting experiments in X. laevis with chromosome 7 from X. tropicalis revealed shared sequences with the short arm of chromosome 3L. These regions could be related by the presence of the nucleolus organizer region (NOR) in both chromosomes, although the region revealed by chromosome painting in the short arm of chromosome 3L in X. laevis did not correspond to 18S + 28S rDNA sequences, as they did not colocalize. The identification of these repeated sequences is of interest as they provide an explanation to some problems already described in the genome assemblies of these species. Furthermore, the distribution of repetitive DNA in the genomes of X. laevis and X. tropicalis might be a valuable marker to assist us in understanding the genome evolution in a group characterized by numerous polyploidization events coupled with hybridizations.
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Jiang, Yuting, Yang Yu, Han Zhang, Hongguo Zhang, Meiling Sun, and Ruizhi Liu. "Xp;Yq Unbalanced Translocation with Pseudoautosomal Region Aberrations in a Natural Two-Generation Transmission." BioMed Research International 2020 (December 4, 2020): 1–8. http://dx.doi.org/10.1155/2020/4976204.
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Translocations involving X and Y chromosomes rarely occur in humans and may affect reproductive function. We investigated an Xp:Yq unbalanced translocation with pseudoautosomal region (PAR) aberrations in a natural two-generation transmission. We report the case of an azoospermic male and his fertile mother without any other abnormal clinical phenotypes, except for short stature. Cytogenetic methods, including karyotyping and fluorescence in situ hybridization (FISH), revealed the translocation. Chromosomal microarray comparative genomic hybridization (array-CGH) was used to investigate the regions of Xp partial deletion and Yq partial duplication. Final chromosome karyotypes in the peripheral blood of the infertile male and his mother were 46,Y,der(X)t(X;Y)(p22.33;q11.22) and 46,X,der(X)t(X;Y)(p22.33;q11.22), respectively. Short-stature-homeobox gene deletion was responsible for the short stature in both subjects. PAR aberrations and AZFc duplication may be a direct genetic risk factor for spermatogenesis. This report further supports the use of routine karyotype analysis, FISH-based technology, and array-CGH analysis to identify derivative chromosomes in a complex rearrangement.
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Göhring, Gudrun, Caroline Fedder, Kathrin Lange, Andrea Schienke, Winfried Hofmann, Hans H. Kreipe, and Brigitte Schlegelberger. "Telomere Shortening and Chromosomal Instability in Chronic Lymphocytic Leukemia." Blood 118, no. 21 (November 18, 2011): 1761. http://dx.doi.org/10.1182/blood.v118.21.1761.1761.
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Abstract Abstract 1761 Chronic lymphocytic leukemia (CLL) is a neoplastic disorder of B-lymphocytes, typically with a high number of peripheral B-lymphocytes and small mature lymphocytes (M Hallek et al, Ann Oncol. 16, Suppl 1:i50-1 (2005). Clinically, some patients have a mild, largely asymptomatic course of the disease and a normal life expectancy, while others suffer from fulminant progression and have a very short survival. An important predictive factor is the presence of typical chromosome aberrations (H Doehner et al, N Engl J Med343, 1910–1916 (2000)). Due to a low proliferative rate of the cells, the gold standard for cytogenetic diagnostics in CLL is fluorescence in situ hybridization (FISH). Therefore, not much is known about the incidence of complex karyotypes, although they are strong predictors of a very poor prognosis in CLL (C Mayr et al, Blood107, 742–751 (2007)). By stimulating the cells with different interleukins and CpG-oligodeoxynucleotides, we were able to detect complex karyotypes in about 10% of investigated cases of CLL by classical banding analysis. In this study, we characterized 24 patients with CLL and complex karyotype by performing multicolor fluorescence in situ hybridization (mFISH). Hereby, we could identify cryptic aberrations and describe the karyotype in greater detail. In addition to typical aberrations involving 6q, 11q, 13q and 17p and trisomy 12, (iso)dicentric chromosomes and whole-arm translocations of chromosomes Y, 1, 3, 4, 5, 13, 15, 17, 18, 21 and 22 were detected. These chromosome aberrations were mostly generated by breaks in heterochromatic and telomeric regions indicating an increased breakage of these regions. This may indicate that epigenetic alterations and critically short telomeres predispose for the generation of chromosome aberrations in CLL. Telomere shortening and chromosomal instability are believed to play an important role in the development of neoplasia. Recently, it was shown that short telomeres in CLL are associated with a poor survival and increased genetic complexity (G Roos et al, Blood111, 2246–2252 (2008)). So far, published data are only available on the average telomere length in CLL, but not on the telomere length of individual chromosomes. We used a new technique, telomere/centromere-fluorescence in situ hybridization (T/C-FISH), which combines fluorescence R-banding and FISH using a probe against the telomere repeats to measure the telomere length of each chromosome arm. In line with previous results, patients with CLL showed significantly shorter telomeres than those of healthy controls. Comparing the telomere lengths of distinct chromosome arms with specific aberrations, there was no significant association. In addition, we could compare the telomere lengths of cells with aberrations and cells without aberrations within one patient. Aberrant metaphases of the same patient showed significantly shorter telomeres than metaphases with a normal karyotype (p<0.05). Thus, telomere shortening is not a basic mechanism affecting all hematopoietic cells in CLL patients, e.g. due to aging, but affects only the malignant cells, indicating that telomere attrition is involved in the pathogenesis of CLL with complex karyotypes. Disclosures: No relevant conflicts of interest to declare.
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She, Chao-Wen, Ying Mao, Xiang-Hui Jiang, and Chun-Ping He. "Comparative molecular cytogenetic characterization of five wild Vigna species (Fabaceae)." Comparative Cytogenetics 14, no. 2 (June 26, 2020): 243–64. http://dx.doi.org/10.3897/compcytogen.v14i2.51154.
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To extend our knowledge on karyotype variation of the genus Vigna Savi, 1824, the chromosomal organization of rRNA genes and fluorochrome banding patterns of five wild Vigna species were studied. Sequential combined PI (propidium iodide) and DAPI (4',6-diamidino-2-phenylindole) (CPD) staining and fluorescence in situ hybridization (FISH) with 5S and 45S rDNA probes were used to analyze the karyotypes of V. luteola (Jacquin, 1771) Bentham, 1959, V. vexillata (Linnaeus, 1753) A. Richard, 1845, V. minima (Roxburgh, 1832) Ohwi & H. Ohashi, 1969, V. trilobata (Linnaeus, 1753) Verdcourt, 1968, and V. caracalla (Linnaeus, 1753) Verdcourt,1970. For further phylogenetic analysis, genomic in situ hybridization (GISH) with the genomic DNA of V. umbellata (Thunberg, 1794) Ohwi & H.Ohashi, 1969 onto the chromosomes of five wild Vigna species was also performed. Detailed karyotypes were established for the first time using chromosome measurements, fluorochrome bands, and rDNA-FISH signals. All species had chromosome number 2n = 2x = 22, and symmetrical karyotypes that composed of only metacentric or metacentric and submetacentric chromosomes. CPD staining revealed all 45S rDNA sites in the five species analyzed, (peri)centromeric GC-rich heterochromatin in V. luteola, V. trilobata and V. caracalla, interstitial GC-rich and pericentromeric AT-rich heterochromatin in V. caracalla. rDNA-FISH revealed two 5S loci in V. caracalla and one 5S locus in the other four species; one 45S locus in V. luteola and V. caracalla, two 45S loci in V. vexillata and V. trilobata, and five 45S loci in V. minima. The karyotypes of the studied species could be clearly distinguished by the karyotypic parameters, and the patterns of the fluorochrome bands and the rDNA sites, which revealed high interspecific variation among the five species. The V. umbellata genomic DNA probe produced weak signals in all proximal regions of V. luteola and all (peri)centromeric regions of V. trilobata. The combined data demonstrate that distinct genome differentiation has occurred among the five species during evolution. The phylogenetic relationships between the five wild species and related cultivated species of Vigna are discussed based on our present and previous molecular cytogenetic data.
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Anokhin, Boris A., and Valentina G. Kuznetsova. "FISH-based karyotyping of Pelmatohydra oligactis (Pallas, 1766), Hydra oxycnida Schulze, 1914, and H. magnipapillata Itô, 1947 (Cnidaria, Hydrozoa)." Comparative Cytogenetics 12, no. 4 (December 20, 2018): 539–48. http://dx.doi.org/10.3897/compcytogen.v12i4.32120.
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An account is given of the karyotypes of Hydramagnipapillata Itô, 1947, H.oxycnida Schulze, 1914, and Pelmatohydraoligactis (Pallas, 1766) (Cnidaria, Hydrozoa, Hydridae). A number of different techniques were used: conventional karyotype characterization by standard staining, DAPI-banding and C-banding was complemented by the physical mapping of the ribosomal RNA (18S rDNA probe) and H3 histone genes, and the telomeric (TTAGGG)n sequence by fluorescence in situ hybridization (FISH). We found that the species studied had 2n = 30; constitutive heterochromatin was present in the centromeric regions of the chromosomes; the “vertebrate” telomeric (TTAGGG)n motif was located on both ends of each chromosome and no interstitial sites were detected; 18S rDNA was mapped on the largest chromosome pair in H.magnipapillata and on one of the largest chromosome pairs in H.oxycnida and P.oligactis; in H.magnipapillata, the major rRNA and H3 histone multigene families were located on the largest pair of chromosomes, on their long arms and in the centromeric areas respectively. This is the first chromosomal mapping of H3 in hydras.
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Majtánová, Zuzana, Karl G. Moy, Peter J. Unmack, Petr Ráb, and Tariq Ezaz. "Characterization of the karyotype and accumulation of repetitive sequences in Australian Darling hardyhead Craterocephalus amniculus (Atheriniformes, Teleostei)." PeerJ 7 (July 30, 2019): e7347. http://dx.doi.org/10.7717/peerj.7347.
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Belonging to the order Atheriniformes, Craterocephalus is one of the most widespread genera of freshwater fishes in Australia, spanning along the northern coast from central Western Australia to central New South Wales and across the Murray-Darling and Lake Eyre basins. In this study, both conventional cytogenetic techniques (Giemsa, C-banding, CMA3/DAPI staining), and fluorescence in situ hybridization (FISH) with telomeric DNA and rDNA probes were used to examine the karyotypes and other chromosomal characteristics of Darling hardyhead (Craterocephalus amniculus) from New South Wales, Australia. We identified a diploid chromosome number 2n = 48 (NF = 58) in all studied individuals. FISH with rDNA probes showed a nonsyntenic pattern, with signals on one pair of subtelocentric chromosomes for 5S rDNA and one pair of submetacentric chromosomes for 28S rDNA. C-banding displayed the accumulation of constitutive heterochromatin in the centromeric regions of approximately 40 chromosomes. CMA3/DAPI fluorescence staining revealed extremely GC-rich signals in the pericentromeric region of one submetacentric chromosomal pair with size polymorphism. We detected telomeric signals at the end of all chromosomes and no interstitial signals.
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da Fonseca, Ivanny Coelho, Luan Aércio Melo Maciel, Frank Raynner Vasconcelos Ribeiro, and Luís Reginaldo Ribeiro Rodrigues. "Karyotypic variation in the long-whiskered catfish Pimelodus blochii Valenciennes, 1840 (Siluriformes, Pimelodidae) from the lower Tapajós, Amazonas and Trombetas Rivers." Comparative Cytogenetics 12, no. 3 (August 2, 2018): 285–98. http://dx.doi.org/10.3897/compcytogen.v12i3.22590.
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The genus Pimelodus LaCépède, 1803 comprises 35 formally recognized species distributed along the major neotropical river basins. Despite conservatism in diploid number with 2n=56, an intense variation of chromosomal morphology (karyotypic formula) has been documented in Pimelodus species. In the present study, we analyzed karyotypes of 20 specimens, identified as Pimelodusblochii Valenciennes, 1840 and collected from the lower courses of the Tapajós, Amazonas and Trombetas Rivers. The karyotypes were characterized by Giemsa conventional staining, C-banding, silver staining (Ag-NOR) and fluorescent in situ hybridization (FISH) with 5S and 18S rDNA probes. The karyotypes showed 2n=56 chromosomes in fish from the Tapajós River. In contrast, fish from the Amazonas and Trombetas Rivers had 2n=58. The nucleolus organizing regions were labeled on the short arm of an acrocentric chromosome as demonstrated by silver staining and FISH. Signals for 18S and 5S rDNA were co-localized on one chromosome pair. Our results demonstrate karyotypic divergence between Tapajós and Amazonas-Trombetas populations of P.blochii, interpreted as supporting the existence of a species complex in this taxon.
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Zadesenets, K. S., and N. B. Rubtsov. "Regions enriched for DNA repeats in chromosomes of Macrostomum mirumnovem, a species with a recent Whole Genome Duplication." Vavilov Journal of Genetics and Breeding 24, no. 6 (October 28, 2020): 636–42. http://dx.doi.org/10.18699/vj20.657.
Full textAbstract:
The free-living flatworm Macrostomum mirumnovem is a neopolyploid species whose genome underwent a recent Whole Genome Duplication (WGD). In the result of chromosome fusions of the ancient haploid chromosome set, large metacentric chromosomes were formed. In addition to three pairs of small metacentrics, the current karyotype of M. mirumnovem contains two pairs of large metacentric chromosomes, MMI1 and MMI2. The generation of microdissected DNA libraries enriched for DNA repeats followed by DNA probe preparation and fluorescent in situ hybridization (FISH) were performed. The DNA probes obtained marked chromosome regions enriched for different DNA repeats in the M. mirumnovem chromosomes. The size and localization of these regions varied in different copies of large chromosomes. They varied even in homologous chromosomes, suggesting their divergence due to genome re-diploidization after a WGD. Besides the newly formed chromosome regions enriched for DNA repeats, B chromosomes were found in the karyotypes of the studied specimens of M. mirumnovem. These B chromosomes varied in size and morphology. FISH with microdissected DNA probes revealed that some Bs had a distinct DNA content. FISH could paint differently B chromosomes in different worms and even in the same sample. B chromosomes could carry a bright specific fluorescent signal or could show no fluorescent signal at all. In latter cases, the specific FISH signal could be absent even in the pericentromeric region of the B chromosome. Possible mechanisms of B chromosome formation and their further evolution are discussed. The results obtained indicate an important role that repetitive DNAs play in genome re-diploidization initiating a rapid differentiation of large chromosome copies. Taking together, karyotype peculiarities (a high level of intraspecific karyotypic diversity associated with chromosome number variation, structural chromosomal rearrangements, and the formation of new regions enriched for DNA repeats) and some phenotypic features of M. mirumnovem (small body size, short lifecycle, easy maintenance in the laboratory) make this species a perspective model in the studies of genomic and karyotypic evolution in species passed through a recent WGD event.
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Willhoeft, Ute, and Gerald Franz. "Comparison of the mitotic karyotypes of Ceratitis capitata, Ceratitis rosa, and Trirhithrum coffeae (Diptera: Tephritidae) by C-banding and FISH." Genome 39, no. 5 (October 1, 1996): 884–89. http://dx.doi.org/10.1139/g96-111.
Full textAbstract:
The sex chromosomes of the tephritid fruit fly Ceratitis capitata (Wiedemann) are heteromorphic. The male-determining region was located on the Y chromosome by deletion mapping using unbalanced offspring from several translocation strains. In addition, we showed that only 15% of the Y chromosome is required for male determination and male fertility. Based on this result, we expected to find Y-chromosomal length polymorphism in natural populations. Using fluorescence in situ hybridization with two repetitive DNA probes that label the Y chromosome, no obvious size differences were detected in seven wild-type strains and three mutant strains. As the medfly is probably of East African origin, we also analyzed two wild-type strains established recently from pupae sampled in Kenya. The Y chromosomes show a polymorphism in the hybridization pattern of a repetitive Y-specific medfly clone. However, the overall size of the Y chromosome is similar to that of the other strains. Besides C. capitata, the tephritid fruit flies Ceratitis (Pterandrus) rosa Karsch and Trirhithrum coffeae Bezzi also emerged from pupae sampled in Kenya. Their karyotype was analyzed by C-banding. Furthermore, the ribosomal genes were mapped to the sex chromosomes in these two species. Key words : Ceratitis capitata, Tephritidae, C-Banding, FISH, rDNA.
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Djordjevic, Vesna, Zvezdana Jemuovic, Sandra Pekic, and Marina Djurovic. "Cytogenetic findings in Serbian patients with Klinefelter syndrome." Genetika 52, no. 1 (2020): 97–105. http://dx.doi.org/10.2298/gensr2001097d.
Full textAbstract:
Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans (1/600 newborn males). The most widespread karyotype in affected patients is 47,XXY, but various others have been described. The aim of this study was to examine the karyotypes of a group of patients suspected of having Klinefelter's syndrome. Between January 1993 and April 2018 104 adult KS patients were evaluated. Cytogenetic analysis was carried out on metaphases obtained from phytohemagglutinin-stimulated peripheral lymphocytes using a standard procedure. Fluorescence in situ hybridization (FISH) analysis was performed on peripheral blood specimens. Vysis CEP X/Y- alpha satellite DNA probes were used to detect X and Y chromosomes. We identified KS presenting the ?standard? or 47,XXY karyotype in eighty three (80%) patients, while five (5%) KS patients showed the mosaic karyotype 47,XXY/46,XY and three (3%) patients had the mosaic karyotype 47,XXY/46,XX. In six (6%) cases KS patients with the ?standard? karyotype also had autosomal chromosomal abnormalities, while numerical sex chromosome abnormalities, with karyotypes 48,XXYY occurred in two (2%) subjects, 47,XYY in three (3%) and 47,XYY/46,XY in two (2%) individuals. Thus, most of our KS patients had the 'standard', 47,XXY karyotype, but some men formed a group of patients with a diversity of other karyotypes. These disparate chromosomal variants may have different physical and mental implications for the general symptomatology of KS. Therefore, it is important to determine the nature of the karyotype of every male with clinical characteristics of KS in very early childhood in order to initiate an adequate, personalized, medical approach.
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Pavlica, M., M. Mcžić, G. Klobučar, M. Šrut, I. Maguire, and J. Mlinarec. "Comparative Karyotype Investigations in the European Crayfish Astacus astacus and A. leptodactylus (Decapoda, Astacidae)." Crustaceana 84, no. 12-13 (2011): 1497–510. http://dx.doi.org/10.1163/156854011x607015.
Full textAbstract:
AbstractThis study reports on the chromosome number and karyological characteristics of the endangered species of European crayfish, Astacus astacus and A. leptodactylus (Decapoda, Astacidae), both native to Croatian freshwater habitats. The karyotype of A. astacus and A. leptodactylus consists of 2n = 176 and 2n = 180 chromosomes, respectively. The haploid chromosome complement of A. astacus consists of 52 metacentric, 35 metacentric-submetacentric, and 1 acrocentric chromosomes. Fluorochrome staining with 4,6-diamino-2-phenylindole (DAPI) has revealed that the karyotypes of A. astacus and A. leptodactylus are characterized by large heterochromatic blocks located at centromeric and intercalary positions on the chromosomes. Interstitial heterochromatic blocks were more frequent in A. astacus than in A. leptodactylus. In both species pairing of chromosomes in meiosis was regular with the majority of bivalents in a ring- and a dumbbell-form. Fluorescence in situ hybridization (FISH) has revealed that two 45S rDNA loci were present in the investigated species. In A. astacus one of the two 45S rDNA-bearing chromosome pairs was highly heteromorphic, exhibiting a three-fold size difference between 45S rDNA sites on homologous chromosomes. Such a size difference was significantly less pronounced in A. leptodactylus. The karyotype differences between A. astacus and A. leptodactylus suggest changes in chromosome number as well as position of repetitive DNAs have played a role in the karyotype evolution of the species of Astacus.
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Wang, Gui-xiang, Qun-yan He, Jiri Macas, Petr Novák, Pavel Neumann, De-xuan Meng, Hong Zhao, et al. "Karyotypes and Distribution of Tandem Repeat Sequences in Brassica nigra Determined by Fluorescence in situ Hybridization." Cytogenetic and Genome Research 152, no. 3 (2017): 158–65. http://dx.doi.org/10.1159/000479179.
Full textAbstract:
Whole-genome shotgun reads were analyzed to determine the repeat sequence composition in the genome of black mustard, Brassica nigra (L.) Koch. The analysis showed that satellite DNA sequences are very abundant in the black mustard genome. The distribution pattern of 7 new tandem repeats (BnSAT13, BnSAT28, BnSAT68, BnSAT76, BnSAT114, BnSAT180, and BnSAT200) on black mustard chromosomes was visualized using fluorescence in situ hybridization (FISH). The FISH signals of BnSAT13 and BnSAT76 provided useful cytogenetic markers; their position and fluorescence intensity allowed for unambiguous identification of all 8 somatic metaphase chromosomes. A karyotype showing the location and fluorescence intensity of these tandem repeat sequences together with the position of rDNAs and centromeric retrotransposons of Brassica (CRB) was constructed. The establishment of the FISH-based karyotype in B. nigra provides valuable information that can be used in detailed analyses of B. nigra accessions and derived allopolyploid Brassica species containing the B genome.
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Brown, Garth R., Vindhya Amarasinghe, Gyula Kiss, and John E. Carlson. "Preliminary karyotype and chromosomal localization of ribosomal DNA sites in white spruce using fluorescence in situ hybridization." Genome 36, no. 2 (April 1, 1993): 310–16. http://dx.doi.org/10.1139/g93-043.
Full textAbstract:
We have localized the major ribosomal DNA (rDNA) loci on metaphase chromosomes and in interphase nuclei of white spruce (2n = 24) by fluorescence in situ hybridization. Hybridization sites of the biotin-labelled rDNA probe were detected using antibody–fluorochrome conjugates and a confocal laser scanning microscope. White spruce has at least 12, and possibly as many as 14, rDNA sites, 1 site present on each of seven separate chromosome pairs. This is one of the highest numbers of rDNA loci yet reported among plant species. The position of the rDNA loci together with secondary constriction patterns permit, for the first time, all homologous pairs of white spruce chromosomes to be distinguished. We discuss the application of molecular cytogenetics in studies relating to the organization and evolution of DNA sequences within conifer genomes.Key words: fluorescence in situ hybridization, Picea, rDNA, karyotype.
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Anjos, Allison, Gabriela C. Rocha, Andressa Paladini, Tatiane C. Mariguela, and Diogo C. Cabral-de-Mello. "Karyotypes and Repetitive DNA Evolution in Six Species of the Genus Mahanarva (Auchenorrhyncha: Cercopidae)." Cytogenetic and Genome Research 149, no. 4 (2016): 321–27. http://dx.doi.org/10.1159/000450730.
Full textAbstract:
Insects of the Cercopidae family are widely distributed and comprise 59 genera and 431 species in the New World. They are xylemophagous, causing losses in agricultural and pasture grasses, and are considered as emerging pests. Chromosomally, these insects have been studied by standard techniques, revealing variable diploid numbers and primarily X0 sex chromosome systems (males). We performed chromosome studies in 6 Mahanarva (Cercopidae) species using standard and differential chromosome staining as well as mapping of repetitive DNAs. Moreover, the relationship between the repetitive DNAs was analyzed at the interspecific level. A diploid chromosome number of 2n = 19,X0 was documented, with chromosomes gradually decreasing in size. Neutral or GC-rich regions were detected which varied depending on the species. Fluorescence in situ hybridization with a (TTAGG)n telomeric motif probe revealed terminal signals, matching those of the Cot DNAs obtained from each species, that were also restricted to the terminal regions of all chromosomes. Dot blot analysis with the Cot fraction from M. quadripunctata showed that at least part of the repetitive genome is shared among the 6 species. Our data highlight the conservation of chromosomal features and organization of repetitive DNAs in the genus Mahanarva, suggesting a low differentiation for chromosomes and repetitive DNAs in most of the 6 species studied.
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Kostmann, Alexander, Barbora Augstenová, Daniel Frynta, Lukáš Kratochvíl, and Michail Rovatsos. "Cytogenetically Elusive Sex Chromosomes in Scincoidean Lizards." International Journal of Molecular Sciences 22, no. 16 (August 12, 2021): 8670. http://dx.doi.org/10.3390/ijms22168670.
Full textAbstract:
The lizards of the species-rich clade Scincoidea including cordylids, gerrhosaurids, skinks, and xantusiids, show an almost cosmopolitan geographical distribution and a remarkable ecological and morphological divergence. However, previous studies revealed limited variability in cytogenetic traits. The sex determination mode was revealed only in a handful of gerrhosaurid, skink, and xantusiid species, which demonstrated either ZZ/ZW or XX/XY sex chromosomes. In this study, we explored the karyotypes of six species of skinks, two species of cordylids, and one gerrhosaurid. We applied conventional and molecular cytogenetic methods, including C-banding, fluorescence in situ hybridization with probes specific for telomeric motifs and rDNA loci, and comparative genomic hybridization. The diploid chromosome numbers are rather conserved among these species, but the chromosome morphology, the presence of interstitial telomeric sequences, and the topology of rDNA loci vary significantly. Notably, XX/XY sex chromosomes were identified only in Tiliqua scincoides, where, in contrast to the X chromosome, the Y chromosome lacks accumulations of rDNA loci. We confirm that within the lizards of the scincoidean clade, sex chromosomes remained in a generally poor stage of differentiation.
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Scardino, Rita, Sofia Mazzoleni, Michail Rovatsos, Luca Vecchioni, and Francesca Dumas. "Molecular Cytogenetic Characterization of the Sicilian Endemic Pond Turtle Emys trinacris and the Yellow-Bellied Slider Trachemys scripta scripta (Testudines, Emydidae)." Genes 11, no. 6 (June 25, 2020): 702. http://dx.doi.org/10.3390/genes11060702.
Full textAbstract:
Turtles, a speciose group consisting of more than 300 species, demonstrate karyotypes with diploid chromosome numbers ranging from 2n = 26 to 2n = 68. However, cytogenetic analyses have been conducted only to 1/3rd of the turtle species, often limited to conventional staining methods. In order to expand our knowledge of the karyotype evolution in turtles, we examined the topology of the (TTAGGG)n telomeric repeats and the rDNA loci by fluorescence in situ hybridization (FISH) on the karyotypes of two emydids: the Sicilian pond turtle, Emys trinacris, and the yellow-bellied slider, Trachemys scripta scripta (family Emydidae). Furthermore, AT-rich and GC-rich chromosome regions were detected by DAPI and CMA3 stains, respectively. The cytogenetic analysis revealed that telomeric sequences are restricted to the terminal ends of all chromosomes and the rDNA loci are localized in one pair of microchromosomes in both species. The karyotype of the Sicilian endemic E. trinacris with diploid number 2n = 50, consisting of 13 pairs of macrochromosomes and 12 pairs of microchromosomes, is presented here for first time. Our comparative examination revealed similar cytogenetic features in Emys trinacris and the closely related E. orbicularis, as well as to other previously studied emydid species, demonstrating a low rate of karyotype evolution, as chromosomal rearrangements are rather infrequent in this group of turtles.
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Nowicka, Anna, Ewa Grzebelus, and Dariusz Grzebelus. "Fluorescent in situ hybridization with arbitrarily amplified DNA fragments differentiates carrot (Daucus carota L.) chromosomes." Genome 55, no. 3 (March 2012): 205–13. http://dx.doi.org/10.1139/g2012-003.
Full textAbstract:
Carrot ( Daucus carota L.) chromosomes are small and poorly differentiated in size and morphology. Here we demonstrate that fluorescent in situ hybridization (FISH) signals derived from arbitrary PCR probes can be used for chromosome identification in carrot. To prepare probes, we searched for nonpolymorphic products abundantly amplified with arbitrary decamer primers in a group of accessions representing carrot genetic diversity. As a result, 13 fragments ranging in size from 517 to 1758 bp were selected, sequenced, and used as probes for fluorescent in situ hybridization. Four of these probes produced clear and reproducible hybridization signals. The sequences showed similarity to a number of carrot BAC-end sequences, indicating their repetitive character. Three of them were similar to internal portions of gypsy and copia LTR retrotransposons previously identified in plants. Hybridization signals for the four probes were observed as dotted tracks on chromosomes, differing in distribution and intensity. Generally, they were present in pericentromeric and (or) interstitial localizations on chromosome arms. The use of the four probes allowed discrimination of chromosome pairs and construction of more detailed karyotypes and idiograms of carrot.
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Ocalewicz, K., and S. Dobosz. "Karyotype variation in the albino rainbow trout (Oncorhynchus mykiss (Walbaum))." Genome 52, no. 4 (April 2009): 347–52. http://dx.doi.org/10.1139/g09-009.
Full textAbstract:
A Robertsonian polymorphism resulting in diploid chromosome number ranging from 59 to 61 and constant chromosome arm number (fundamental number = 104) was observed in the albino rainbow trout ( Oncorhynchus mykiss (Walbaum)) from the yellow color strain. In one individual, 90 mitotic chromosomes and 156 chromosome arms were counted, indicating the fish as a triploid. Morphology of the chromosomes, DAPI staining, and the cytogenetic location of 5S rDNA sequences showed sex-related chromosomal heteromorphism in the specimens. Additionally, length polymorphism of the X chromosome was detected in the studied individuals and two morphs of the X chromosome were described, XL and XS, according to the size of its short arm (p). The XS was observed in the female as well as male albino rainbow trout; however, among females, no XSXS genotype was found. After primed in situ labeling with 5S rDNA primers, the p-arms of both types of the X chromosome showed similar hybridization signals. On the other hand, fluorescence in situ hybridization with telomeric PNA (peptide nucleic acid) probe exhibited weak hybridization spots on the p-arm of the XS chromosome compared with the distinct hybridization spots observed on the XL p-arm. This could reflect a different telomere length on the p-arm of the XS and XL chromosomes. Partial translocation and deletion of the X chromosome p-arm are considered to be responsible for the p-arm length difference between the two morphological variants of X chromosome.
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Drach, J., J. Angerler, J. Schuster, C. Rothermundt, R. Thalhammer, OA Haas, U. Jager, M. Fiegl, K. Geissler, and H. Ludwig. "Interphase fluorescence in situ hybridization identifies chromosomal abnormalities in plasma cells from patients with monoclonal gammopathy of undetermined significance." Blood 86, no. 10 (November 15, 1995): 3915–21. http://dx.doi.org/10.1182/blood.v86.10.3915.bloodjournal86103915.
Full textAbstract:
Karyotypic studies in patients with monoclonal gammopathy of undetermined significance (MGUS) have been hampered by a low percentage of bone marrow plasma cells (BMPC), which are predominantly nonproliferating. By combining cytomorphology and interphase fluorescence in situ hybridization (FISH) we investigated whether or not chromosomal abnormalities occur in BMPC from patients with MGUS. Studying chromosomes 3, 7, 11, and 18, which we found to be frequently aneuploid by FISH in multiple myeloma (MM), we observed three hybridization signals for one of these chromosomes 3 were most common, occurring in 38.9% of patients, followed by gains of chromosomes 11 (25%), 7 (16.7%), and 18 (5.6%) Among BMPC, the frequency of aneuploid cells was 18.9% +/- 13.9% (mean +/- SD) for chromosome 3, 22.3% +/- 9.2% for chromosome 11, 23.2% +/- 22.0% for chromosome 7, and 6.1% +/- 2.3% for chromosome 18. In five patients, chromosomal abnormalities were shown to be restricted to BMPC expressing cytoplasmic immunoglobulins corresponding to the serum paraprotein. No gain of hybridization signals was observed in normal and reactive plasma cells. In one patient with MGUS, metaphase cytogenetics revealed one abnormal metaphase with 47, XY, +4, and trisomy 4 was also demonstrated in a subpopulation of BMPC by interphase FISH. FISH results from patients with MGUS and newly diagnosed MM at stage IA (n = 14) indicated that aberrations involving > or = 2 chromosomes occurred significantly more often in early stage MM (P < .01). With respect to clinical and laboratory features, MGUS patients with and without chromosomal abnormalities were indistinguishable. Our results indicate that MGUS already has the chromosomal characteristics of a plasma cell malignancy.
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López-Fernández, C., E. Pradillo, M. Zabal-Aguirre, J. L. Fernández, C. García de la Vega, and J. Gosálvez. "Telomeric and interstitial telomeric-like DNA sequences in Orthoptera genomes." Genome 47, no. 4 (August 1, 2004): 757–63. http://dx.doi.org/10.1139/g03-143.
Full textAbstract:
A (TTAGG)n-specific telomeric DNA probe was hybridized to 11 orthopteroid insect genomes by fluorescence in situ hybridization. Nine different genera, mainly distributed within two evolutionary branches with male chromosome numbers 2n = 23 and 2n = 17 were included in the analysis. Telomere sequences yielded positive signals in every telomere and there was a considerable number of interstitial telomeric-like sequences, mainly located at the distal end of some, but not all, subterminal chromosome regions. One of the species, Pyrgomorpha conica, showed massive hybridization signals associated with constitutive heterochromatin. The results are discussed along two lines: (i) the chromosomal evolutionary trends within this group of insects and (ii) the putative role that ITs may play in a genome when they are considered telomere-derived, but not telomere-functional, DNA sequences.Key words: telomere, insect chromosomes, karyotype evolution, fluorescence in situ hybridization.
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Clemente, Lorenzo, Sofia Mazzoleni, Eleonora Pensabene Bellavia, Barbora Augstenová, Markus Auer, Peter Praschag, Tomáš Protiva, et al. "Interstitial Telomeric Repeats Are Rare in Turtles." Genes 11, no. 6 (June 16, 2020): 657. http://dx.doi.org/10.3390/genes11060657.
Full textAbstract:
Telomeres are nucleoprotein complexes protecting chromosome ends in most eukaryotic organisms. In addition to chromosome ends, telomeric-like motifs can be accumulated in centromeric, pericentromeric and intermediate (i.e., between centromeres and telomeres) positions as so-called interstitial telomeric repeats (ITRs). We mapped the distribution of (TTAGGG)n repeats in the karyotypes of 30 species from nine families of turtles using fluorescence in situ hybridization. All examined species showed the expected terminal topology of telomeric motifs at the edges of chromosomes. We detected ITRs in only five species from three families. Combining our and literature data, we inferred seven independent origins of ITRs among turtles. ITRs occurred in turtles in centromeric positions, often in several chromosomal pairs, in a given species. Their distribution does not correspond directly to interchromosomal rearrangements. Our findings support that centromeres and non-recombining parts of sex chromosomes are very dynamic genomic regions, even in turtles, a group generally thought to be slowly evolving. However, in contrast to squamate reptiles (lizards and snakes), where ITRs were found in more than half of the examined species, and birds, the presence of ITRs is generally rare in turtles, which agrees with the expected low rates of chromosomal rearrangements and rather slow karyotype evolution in this group.
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Rosolen, Lucas A. M., Marcelo R. Vicari, and Mara C. Almeida. "Accumulation of Transposable Elements in Autosomes and Giant Sex Chromosomes of Omophoita (Chrysomelidae: Alticinae)." Cytogenetic and Genome Research 156, no. 4 (2018): 215–22. http://dx.doi.org/10.1159/000495199.
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Coleoptera is the most diverse order among insects, and comparative molecular cytogenetic studies in this group are lacking. The species of Omophoita (Oedionychina) possess a karyotype of 2n = 22 = 10II+X+Y. They are interesting models for evolutionary cytogenetic studies due to giant sex chromosomes which are asynaptic during meiosis. Transposable elements (TEs) confer plasticity and mobility to genomes and are considered hotspots for DNA double-strand breaks and chromosomal rearrangements. The objective of the present study was to verify the role of TEs in the karyotype and in the size expansion of the giant sex chromosomes in Omophoita. Thus, different TEs were characterized in the Omophoita genome and localized in the chromosomes by fluorescence in situ hybridization (FISH). The DNA sequencing data revealed identity with TE families Tc1/Mariner and RTE/L1-56_XT. FISH showed signals of all TEs in the karyotypes and a high accumulation in the sex chromosomes of the 3 Omophoita species analyzed. These data suggest that the genome size expansion and the origin of the giant sex chromosomes of Omophoita are due to an intensive genomic invasion of TEs, as those characterized here as Tc1/Mariner-Ooc and RTE-Ooc. Differences in the chromosomal location of the TEs among the 3 species indicate that they have participated in the karyotype differentiation in Omophoita.
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Schmid, Michael, and Claus Steinlein. "Chromosome Banding in Amphibia. XXXIV. Intrachromosomal Telomeric DNA Sequences in Anura." Cytogenetic and Genome Research 148, no. 2-3 (2016): 211–26. http://dx.doi.org/10.1159/000446298.
Full textAbstract:
The mitotic chromosomes of 4 anuran species were examined by various classical banding techniques and by fluorescence in situ hybridization using a (TTAGGG)n repeat. Large intrachromosomal telomeric sequences (ITSs) were demonstrated in differing numbers and chromosome locations. A detailed comparison of the present results with numerous published and unpublished data allowed a consistent classification of the various categories of large ITSs present in the genomes of anurans and other vertebrates. The classification takes into consideration the total numbers of large ITSs in the karyotypes, their chromosomal locations and their specific distribution patterns. A new category of large ITSs was recognized to exist in anuran species. It consists of large clusters of ITSs located in euchromatic chromosome segments, which is in clear contrast to the large ITSs in heterochromatic chromosome regions known in vertebrates. The origin of the different categories of large ITSs in heterochromatic and euchromatic chromosome regions, their mode of distribution in the karyotypes and evolutionary fixation in the genomes, as well as their cytological detection are discussed.
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Busch, Winfried, Regina Martin, Reinhold G. Herrmann, and Uwe Hohmann. "Repeated DNA sequences isolated by microdissection. I. Karyotyping of barley (Hordeum vulgare L.)." Genome 38, no. 6 (December 1, 1995): 1082–90. http://dx.doi.org/10.1139/g95-144.
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We report on microdissection, cloning and sequence, and Southern and fluorescence in situ hybridization (FISH) analysis of one moderately and one highly amplified repetitive DNA element, pHvMWG2314 and pHvMWG2315, respectively, isolated from barley (Hordeum vulgare L.) chromosome arm 3HL. The pHvMWG2315 sequence hybridizes to all 14 telomeric or subtelomeric regions of the barley chromosomes as determined by FISH. The 50 different hybridization sites that include intercalary signals allow the discrimination of all 14 chromosome arms and the construction of a karyotype of barley. The tandemly repeated subtelomeric element of 331 bp exists in all Triticeae species tested (H. vulgare, Agropyron elongatum, Secale cereale, Triticum tauschii, T. turgidum, and T. aestivum). It is AT rich (66%), exhibits 84% sequence homology to subfragments of the D genome "specific" 1-kb element pAsl of T. tauschii and 75% homology to the interspersed genome-specific DNA sequence pHcKB6 from H. chilense. The repetitive sequence pHvMWG2314 is moderately amplified in barley and highly amplified in hexaploid wheat. The in situ experiments revealed no distinct signals on barley chromosomes, indicating a dispersed character for the sequence. The significance of the results for the identification of chromosomes and chromosome aberrations in FISH experiments are discussed.Key words: karyotype, fluorescence in situ hybridization, FISH, DNA sequencing.
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Chang, Yu-Chu, Chou-Tou Shii, and Mei-Chu Chung. "Variations in Ribosomal RNA Gene Loci in Spider Lily (Lycoris spp.)." Journal of the American Society for Horticultural Science 134, no. 5 (September 2009): 567–73. http://dx.doi.org/10.21273/jashs.134.5.567.
Full textAbstract:
Lycoris species of the Amaryllidaceae are important ornamental and medicinal plants in Asia. Karyotypes of Lycoris species have been studied extensively since the time when their chromosome numbers were first counted over 80 years ago. Based on karyotype, Lycoris taxa can be classified into the monomorphic A group, dimorphic MT group, and the sterile dikaryotype MT-A group. Numerous reports dealing with karyotype analysis and phylogenetic relationship in the genus Lycoris have been published. However, there are disputes and controversies regarding karyotype evolution resulting from lacking efficient and reliable markers for chromosome identification in the genus Lycoris. In this study, we applied fluorescent in situ hybridization (FISH) to visualize the 5S and 45S rDNA loci on chromosomes as landmarks for chromosome identification in Lycoris taxa. In total, 12 accessions of three karyotype groups, including nine species and three artificial dikaryotype hybrids, were investigated. A high degree of variation in the number and position of 5S and 45S rDNA loci was detected among Lycoris taxa. There were four to 14 FISH signals of 5S rDNAs and two to 12 FISH signals of 45S rDNAs observed in each investigated Lycoris accession. Lycoris accessions with the same karyotype 2n = 22A may have different numbers of rDNA loci, which distributed at different chromosomal positions. In an interspecific hybrid, the number and chromosomal position of both 5S and 45S rDNA loci were either the combinations of those in their parental species or considerably modified. Overlapping FISH signals of 5S and 45S rDNAs were colocalized with a 4′, 6-diamidino-2-phenylindole-positive band at the end of the p-arm on almost every T-type chromosome (but not the A-type chromosomes). Based on the features of T-type chromosomes, the possibility of centromeric fission in karyotypic evolution of Lycoris is discussed.
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Vozdova, Miluse, Svatava Kubickova, Halina Cernohorska, Jan Fröhlich, and Jiri Rubes. "Anchoring the CerEla1.0 Genome Assembly to Red Deer (Cervus elaphus) and Cattle (Bos taurus) Chromosomes and Specification of Evolutionary Chromosome Rearrangements in Cervidae." Animals 11, no. 9 (September 6, 2021): 2614. http://dx.doi.org/10.3390/ani11092614.
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The family Cervidae groups a range of species with an increasing economic significance. Their karyotypes share 35 evolutionary conserved chromosomal segments with cattle (Bos taurus). Recent publication of the annotated red deer (Cervus elaphus) whole genome assembly (CerEla1.0) has provided a basis for advanced genetic studies. In this study, we compared the red deer CerEla1.0 and bovine ARS-UCD1.2 genome assembly and used fluorescence in situ hybridization with bovine BAC probes to verify the homology between bovine and deer chromosomes, determined the centromere-telomere orientation of the CerEla1.0 C-scaffolds and specified positions of the cervid evolutionary chromosome breakpoints. In addition, we revealed several incongruences between the current deer and bovine genome assemblies that were shown to be caused by errors in the CerEla1.0 assembly. Finally, we verified the centromere-to-centromere orientation of evolutionarily fused chromosomes in seven additional deer species, giving a support to previous studies on their chromosome evolution.
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Xiao, Yajuan, Yuanlu Huang, Na Xu, Rong Lin, Xuan Zhou, Xiaozhen Xiao, Guanlun Gao, and Liu Xiaoli, MD. "Chromosomal Instability: A Probable Unfavorable Prognostic Factor For Patients Of Myeloidysplastic Syndromes." Blood 122, no. 21 (November 15, 2013): 5243. http://dx.doi.org/10.1182/blood.v122.21.5243.5243.
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Abstract Objective Myelodysplastic syndromes (MDS) are a group of heterogeneous hematopoetic stem cell clonal disorders with a high frequency of karyotypic abnormalities (40-60%). Among karyotypic abnormalities, abnormal chromosome numbers (aneuploidy) occurs frequently. In aneuploidy, chromosomal instability (CIN) is defined as persistent mis-segregation of whole chromosomes and is caused by defects during mitosis with an odd number of chromosomes. CIN is associated with tumor heterogenesis, multidrug resistance and aggressiveness in solid tumor. Hence, we performed a one-center study on MDS patients to uncover the role of CIN in MDS clinical development. Method A total of 104 cases , 62 male and 42 female, aged from 15 years to 89 years, were tested by fluorescent in situ hybridization (FISH) and karyotypic analysis before any therapeutic intervention. According to the cytogenetic analysis of those two technology they were separated into 5 groups including: CIN, normal karyotype, complex karyotype excluding CIN, deletion chromosome 7 abnormality and other chromosomal abnormalities. All cases were followed up for a median of 19.5 months. Results Karyotyping and FISH identified 70 (67.3%) patients with abnormal karyotypes containing 32 cases of CIN, 9 cases of deletion chromosome 7 abnormality and 5 cases of complex karyotype excluding CIN. The median survival for CIN group was 13 months (incredible interval:6-20 months) compared with 23 months (incredible interval :20-27 months) in all cases, 44months in normal karyotype, 23 months in deletion chromosome 7 abnormality and 13 months in complex karyotype excluding CIN group (P=0.001 for log rank method). In CIN group, 11 cases transformed into acute leukemia with a incidence of 34% with no significant difference with total cases. And the length of time for leukemia transformation shows no significant difference between CIN group and total cases. Conclusion Chromosomal instability in MDS patients of the study revealed worst prognosis compared with other groups. This may suggest that chromosomal instability in MDS chromosomal abnormality confer a significant independent adverse impact on patients survival. However this effect might have no relation to leukemia transformation. Disclosures: No relevant conflicts of interest to declare.
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Pavlova, Svetlana V., Larisa S. Biltueva, Svetlana A. Romanenko, Natalya A. Lemskaya, Anton V. Shchinov, Alexei V. Abramov, and Viatcheslav V. Rozhnov. "First cytogenetic analysis of lesser gymnures (Mammalia, Galericidae, Hylomys) from Vietnam." Comparative Cytogenetics 12, no. 3 (August 23, 2018): 361–72. http://dx.doi.org/10.3897/compcytogen.v12i3.27207.
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Gymnures are an ancient group of small insectivorous mammals and are characterized by a controversial taxonomic status and the lack of a description of karyotypes for certain species. In this study, conventional cytogenetic techniques (Giemsa, CBG- and GTG-banding, Ag-NOR), CMA3-DAPI staining, and fluorescent in situ hybridization (FISH) with telomeric DNA probes were used to examine for the first time the karyotypes of lesser gymnures of group Hylomyssuillus Müller, 1840 from northern and southern Vietnam. All studied specimens had karyotypes with 2n=48, NFa=64. C-positive heterochromatic blocks existed in centromeric regions of 7 bi-armed autosomes and the submetacentric X chromosome. The Y chromosome is a C-positive and dot-like. The nucleolus organizer regions resided terminally on the short arms of 2 small bi-armed pairs. Positive signals at the telomeres of all chromosomes were revealed by FISH. CMA3-positive blocks were localized on the telomeric and pericentric regions of most bi-armed and acrocentric chromosomes. Despite the large genetic distances between Hylomys Müller, 1840, lesser gymnures from H.suillus-group from northern and southern Vietnam have similar karyotypic characteristics.
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Ta, Lan, Adrian Zordan, Bruce Mercer, Lynda J. Campbell, and Ruth N. MacKinnon. "The Breakage-Fusion-Bridge Cycle Producing MLL Amplification in a Case of Myelodysplastic Syndrome." Journal of Cancer Research 2013 (July 18, 2013): 1–6. http://dx.doi.org/10.1155/2013/452809.
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Telomere loss may lead to chromosomal instability via the breakage-fusion-bridge (BFB) cycle which can result in genetic amplification and the formation of ring and dicentric chromosomes. This cycle continues until stable chromosomes are formed. The case of a 72-year-old female with refractory anaemia with excess blasts type 2 illustrates these events. Conventional cytogenetics produced a complex karyotype which included unstable abnormalities of chromosomes 11, 12, and 15. Fluorescence in situ hybridization (FISH) analyses including multicolor-FISH (M-FISH) and multicolor-banding (M-BAND) revealed multiple clonal populations with 5 copies of MLL on either a ring chromosome composed entirely of chromosome 11 material or a derivative chromosome composed of chromosomes 11, 12, and 15. The FISH results also clarified the likely evolution of the karyotypic complexity. The simplest cell line contained a dic(12;15) in addition to copy number aberrations that are typical of MDS or AML. As the disease progressed, a ring 11 was formed. Subsequently, the ring 11 appears to have unwound and inserted itself into the dic(12;15) chromosome followed by an inversion of the derivative chromosome, producing a der(11;15;12). Telomeric loss and BFB cycles appear to have played an important role in the chromosomal rearrangements and clonal evolution demonstrated in the karyotype.
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Tang, Yan-Mei, Liang Xiao, Yasir Iqbal, Jian-Feng Liao, Long-Qian Xiao, Zi-Li Yi, and Chao-Wen She. "Molecular cytogenetic characterization and phylogenetic analysis of four Miscanthus species (Poaceae)." Comparative Cytogenetics 13, no. 3 (August 9, 2019): 211–30. http://dx.doi.org/10.3897/compcytogen.v13i3.35346.
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Chromosomes of four Miscanthus (Andersson, 1855) species including M. sinensis (Andersson, 1855), M. floridulus (Schumann & Lauterb, 1901), M. sacchariflorus (Hackel, 1882) and M. lutarioriparius (Chen & Renvoize, 2005) were analyzed using sequentially combined PI and DAPI (CPD) staining and fluorescence in situ hybridization (FISH) with 45S rDNA probe. To elucidate the phylogenetic relationship among the four Miscanthus species, the homology of repetitive sequences among the four species was analyzed by comparative genomic in situ hybridization (cGISH). Subsequently four Miscanthus species were clustered based on the internal transcribed spacer (ITS) of 45S rDNA. Molecular cytogenetic karyotypes of the four Miscanthus species were established for the first time using chromosome measurements, fluorochrome bands and 45S rDNA FISH signals, which will provide a cytogenetic tool for the identification of these four species. All the four have the karyotype formula of Miscanthus species, which is 2n = 2x = 38 = 34m(2SAT) + 4sm, and one pair of 45S rDNA sites. The latter were shown as strong red bands by CPD staining. A non-rDNA CPD band emerged in M. floridulus and some blue DAPI bands appeared in M. sinensis and M. floridulus. The hybridization signals of M. floridulus genomic DNA to the chromosomes of M. sinensis and M. lutarioriparius genomic DNA to the chromosomes of M. sacchariflorus were stronger and more evenly distributed than other combinations. Molecular phylogenetic trees showed that M. sinensis and M. floridulus were closest relatives, and M. sacchariflorus and M. lutarioriparius were also closely related. These findings were consistent with the phylogenetic relationships inferred from the cGISH patterns.
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Megyeri, M., A. Farkas, M. Varga, G. Kovács, M. Molnár-Láng, and I. Molnár. "Karyotypic analysis of Triticum monococcum using standard repetitive DNA probes and simple sequence repeats." Acta Agronomica Hungarica 60, no. 2 (June 1, 2012): 87–95. http://dx.doi.org/10.1556/aagr.60.2012.2.1.
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Triticum monococcum represents an important source of useful genes and alleles that it would be desirable to use in wheat breeding programmes. The well-defined landmarks on the Am chromosomes could accelerate the targeted introgression of T. monococcum chromatin into the wheat genome.Fluorescence in situ hybridization (FISH) using the repetitive DNA probes pSc119.2, Afa family and pTa71 showed that the pSc119.2 probe was not suitable for the identification of Am chromosomes. In contrast, the whole set of Am chromosomes (especially chromosomes 1, 4, 5 and 7) could be discriminated based on the hybridization pattern of pTa71 and Afa family. In situ hybridization with microsatellite motifs (GAA, CAG, AAC and AGG) proved that SSRs represent additional landmarks for the identification of Am chromosomes. The most promising SSR probes were the GAA and CAG motifs, which clearly discriminated the 6Am chromosome and, when used in combination with the Afa family and pTa71 probes, allowed the whole set of Am chromosomes to be reliably identified.In conclusion, fluorescence in situ hybridization using the repetitive DNA probes Afa family and pTa71, combined with SSR probes, makes it possible to identify the Am chromosomes of T. monococcum and to discriminate them from Au chromosomes in the polyploid wheat background.
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Campos, Alber Sousa, Ramon Marin Favarato, and Eliana Feldberg. "Interspecific cytogenetic relationships in three Acestrohynchus species (Acestrohynchinae, Characiformes) reveal the existence of possible cryptic species." Comparative Cytogenetics 14, no. 1 (January 15, 2020): 27–42. http://dx.doi.org/10.3897/compcytogen.v14i1.33483.
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The karyotypes and chromosomal characteristics of three Acestrorhynchus Eigenmann et Kennedy, 1903 species were examined using conventional and molecular protocols. These species had invariably a diploid chromosome number 2n = 50. Acestrorhynchus falcatus (Block, 1794) and Acestrorhynchus falcirostris (Cuvier, 1819) had the karyotype composed of 16 metacentric (m) + 28 submetacentric (sm) + 6 subtelocentric (st) chromosomes while Acestrorhynchus microlepis (Schomburgk, 1841) had the karyotype composed of 14m+30sm+6st elements. In this species, differences of the conventional and molecular markers between the populations of Catalão Lake (AM) and of Apeu Stream (PA) were found. Thus the individuals of Pará (Apeu) were named Acestrorhynchus prope microlepis. The distribution of the constitutive heterochromatin blocks was species-specific, with C-positive bands in the centromeric and telomeric regions of a number of different chromosomes, as well as in interstitial sites and completely heterochromatic arms. The phenotypes of nucleolus organizer region (NOR) were simple, i. e. in a terminal position on the p arm of pair No. 23 except in A. microlepis, in which it was located on the q arm. Fluorescence in situ hybridization (FISH) revealed 18S rDNA sites on one chromosome pair in karyotype of A. falcirostris and A. prope microlepis (pair No. 23) and three pairs (Nos. 12, 23, 24) in A. falcatus and (Nos. 8, 23, 24) in A. microlepis; 5S rDNA sites were detected in one chromosome pair in all three species. The mapping of the telomeric sequences revealed terminal sequences in all the chromosomes, as well as the presence of interstitial telomeric sequences (ITSs) in a number of chromosome pairs. The cytogenetic data recorded in the present study indicate that A. prope microlepis may be an unnamed species.
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Nhu Phuong, Hoang Thi, Huynh Thi Thu Hue, and Cao Xuan Hieu. "Applications of fluorescence in situ hybridization (FISH) in genome research." Vietnam Journal of Biotechnology 17, no. 3 (November 28, 2020): 393–410. http://dx.doi.org/10.15625/1811-4989/17/3/15703.
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Fluorescence in situ hybridization (FISH) technique enables the direct detection of DNA sequences inintact cellular materials (e.g. individual chromosomes in metaphase spreads). This review article focuses on theapplications of FISH in genome research, including validation and correction of the genome assembly from thenext-generation sequencing (NGS) projects. DNA probes for specific DNA fragments of the assembly can beobtained from PCR amplicon or cloned products using different vector systems. Localization of these probeson their respective chromosomal regions can be visualized by FISH, providing useful information to crosscheckthe assembly data. Furthermore, the recent refinements in the FISH technology including using smartpooling scheme of differently colored DNA probes, together with consecutive FISH experiments (stripping andreprobing of the same slide) are described. These advances in multicolor FISH can provide crucial linkageinformation on association of linkage groups and assembly scaffolds, resulting in so-called cytogenetic maps.Integration of the cytogenetic maps and assembly sequences assists to resolve the chromosome-level genomeassembly and to reveal new insights in genome architecture and genome evolution. Especially, comparativechromosome painting with pooled DNA probes from one reference species can be used to investigate ancestralrelationships (chromosome homeology and rearrangements) among other not-yet-sequenced species. Inaddition, FISH using DNA probes for certain specific classes of repetitive DNA elements as well as for basicchromosome structures (e.g. centromere or telomere DNA repeats, ribosomal DNA loci) can be used to studythe genome organization and karyotype differentiation. We also discussed about limitations and futureperspectives of the FISH technology.
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Fominaya, A., S. Molnar, G. Fedak, K. C. Armstrong, N. S. Kim, and Q. Chen. "Characterization of Thinopyrum distichum chromosomes using double fluorescence in situ hybridization, RFLP analysis of 5S and 26S rRNA, and C-banding of parents and addition lines." Genome 40, no. 5 (October 1, 1997): 689–96. http://dx.doi.org/10.1139/g97-791.
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Diagnostic markers for eight Thinopyrum distichum addition chromosomes in Triticum turgidum were established using C-banding, in situ hybridization, and restriction fragment length polymorphism analysis. The C-band karyotype conclusively identified individual Th. distichum chromosomes and distinguished them from chromosomes of T. turgidum. Also, TaqI and BamHI restriction fragments containing 5S and 18S–5.8S–26S rRNA sequences were identified as positive markers specific to Th. distichum chromosomes. Simultaneous fluorescence in situ hybridization showed both 5S and 18S–5.8S–26S ribosomal RNA genes to be located on chromosome IV. Thinopyrum distichum chromosome VII carried only a 18S–5.8S–26S rRNA locus and chromosome pair II carried only a 5S rRNA locus. The arrangement of these loci on Th. distichum chromosome IV was different from that on wheat chromosome pair 1B. Two other unidentified Th. distichum chromosome pairs also carried 5S rRNA loci. The homoeologous relationship between Th. distichum chromosomes IV and VII and chromosomes of other members of the Triticeae was discussed by comparing results obtained using these physical and molecular markers.Key words: Triticum turgidum, homoeologous relationship, Triticeae, addition lines, NOR.
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Petraccioli, Agnese, Paolo Crovato, Fabio Maria Guarino, Marcello Mezzasalma, Gaetano Odierna, Orfeo Picariello, and Nicola Maio. "Chromosome Diversity and Evolution in Helicoide a (Gastropoda: Stylommatophora): A Synthesis from Original and Literature Data." Animals 11, no. 9 (August 30, 2021): 2551. http://dx.doi.org/10.3390/ani11092551.
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We performed a molecular and a comparative cytogenetic analysis on different Helicoidea species and a review of all the available chromosome data on the superfamily to provide an updated assessment of its karyological diversity. Standard karyotyping, banding techniques, and Fluorescence in situ hybridization of Nucleolus Organizer Region loci (NOR-FISH) were performed on fifteen species of three families: two Geomitridae, four Hygromiidae and nine Helicidae. The karyotypes of the studied species varied from 2n = 44 to 2n = 60, highlighting a high karyological diversity. NORs were on a single chromosome pair in Cernuella virgata and on multiple pairs in four Helicidae, representing ancestral and derived conditions, respectively. Heterochromatic C-bands were found on pericentromeric regions of few chromosomes, being Q- and 4′,6-diamidino-2-phenylindole (DAPI) negative. NOR-associated heterochromatin was C-banding and chromomycin A3 (CMA3) positive. Considering the available karyological evidence on Helicoidea and superimposing the chromosome data gathered from different sources on available phylogenetic inferences, we describe a karyotype of 2n = 60 with all biarmed elements as the ancestral state in the superfamily. From this condition, an accumulation of chromosome translocations led to karyotypes with a lower chromosome number (2n = 50–44). This process occurred independently in different lineages, while an augment of the chromosome number was detectable in Polygyridae. Chromosome inversions were also relevant chromosome rearrangements in Helicoidea, leading to the formation of telocentric elements in karyotypes with a relatively low chromosome count.
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Pacheco, Rosiley B., Lucia Giuliano-Caetano, Horácio F. Julio Junior, and Ana L. Dias. "Cytogenetic data on Astyanax jacuhiensis (Characidae) in the lago Guaíba and tributaries, Brazil." Neotropical Ichthyology 8, no. 3 (2010): 667–71. http://dx.doi.org/10.1590/s1679-62252010000300013.
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Cytogenetic analyses were performed in Astyanax jacuhiensis from lago Guaíba, Brazil. The diploid number was 50, with a karyotype composed of 8m+30sm+4st+8a chromosomes, FN = 92. The AgNORs were observed in 2 to 5 chromosomes, with intra- and interindividual variation. The sm pair 8 observed always carried NORs on the short arms, presenting size heteromorphism between homologous. Fluorescence in situ hybridization (FISH) with an 18S rDNA probe only confirmed the location of ribosomal cistrons in the sm pair 8, and heteromorphism of these regions between the homologous chromosomes. C-banding revealed the occurrence of weak C-positive heterochromatin in the pericentromeric regions of several chromosomes, in addition to more evident bands interstitially located on some chromosome pairs and in the terminal region of the short arms in pair 8. C-banding plus CMA3 revealed light fluorescent signals in different chromosomes of the karyotype, with a strong terminal site in pair 8, indicating the occurrence of several GC-rich heterochromatic regions in this species. Our results provide the first description of the Astyanax jacuhiensis karyotype, showing karyotype similarities when compared to various populations of A. altiparanae and A. bimaculatus, indicating that chromosomal features are very similar for these three species.
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Augstenová, Barbora, Eleonora Pensabene, Lukáš Kratochvíl, and Michail Rovatsos. "Cytogenetic Evidence for Sex Chromosomes and Karyotype Evolution in Anguimorphan Lizards." Cells 10, no. 7 (June 28, 2021): 1612. http://dx.doi.org/10.3390/cells10071612.
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Anguimorphan lizards are a morphologically variable group of squamate reptiles with a wide geographical distribution. In spite of their importance, they have been cytogenetically understudied. Here, we present the results of the cytogenetic examination of 23 species from five anguimorphan families (Anguidae, Helodermatidae, Shinisauridae, Varanidae and Xenosauridae). We applied both conventional (Giemsa staining and C-banding) and molecular cytogenetic methods (fluorescence in situ hybridization with probes for the telomeric motifs and rDNA loci, comparative genome hybridization), intending to describe the karyotypes of previously unstudied species, to uncover the sex determination mode, and to reveal the distribution of variability in cytogenetic characteristics among anguimorphan lizards. We documented that karyotypes are generally quite variable across anguimorphan lineages, with anguids being the most varying. However, the derived chromosome number of 2n = 40 exhibits a notable long-term evolutionary stasis in monitors. Differentiated ZZ/ZW sex chromosomes were documented in monitors and helodermatids, as well as in the anguids Abronia lythrochila, and preliminary also in Celestus warreni and Gerrhonotus liocephalus. Several other anguimorphan species have likely poorly differentiated sex chromosomes, which cannot be detected by the applied cytogenetic methods, although the presence of environmental sex determination cannot be excluded. In addition, we uncovered a rare case of spontaneous triploidy in a fully grown Varanus primordius.
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Rey, María-Dolores, Graham Moore, and Azahara C. Martín. "Identification and comparison of individual chromosomes of three accessions of Hordeum chilense, Hordeum vulgare, and Triticum aestivum by FISH." Genome 61, no. 6 (June 2018): 387–96. http://dx.doi.org/10.1139/gen-2018-0016.
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Karyotypes of three accessions of Hordeum chilense (H1, H16, and H7), Hordeum vulgare, and Triticum aestivum were characterized by physical mapping of several repetitive sequences. A total of 14 repetitive sequences were used as probes for fluorescence in situ hybridization (FISH) with the aim of identifying inter- and intraspecies polymorphisms. The (AG)12 and 4P6 probes only produced hybridization signals in wheat, the BAC7 probe only hybridized to the centromeric region of H. vulgare, and the pSc119.2 probe hybridized to both wheat and H. chilense, but not to H. vulgare. The remaining repetitive sequences used in this study produced a hybridization signal in all the genotypes. Probes pAs1, pTa-535, pTa71, CCS1, and CRW were much conserved, showing no significant polymorphism among the genotypes studied. Probes GAA, (AAC)5, (CTA)5, HvT01, and pTa794 produced the most different hybridization pattern. We identified large polymorphisms in the three accessions of H. chilense studied, supporting the proposal of the existence of different groups inside species of H. chilense. The set of probes described in this work allowed the identification of every single chromosome in all three species, providing a complete cytogenetic karyotype of H. chilense, H. vulgare, and T. aestivum chromosomes, which could be useful in wheat and tritordeum breeding programs.
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Jay, Venita, Vern Edwards, Eelco Hoving, James Rutka, Laurence Becker, Maria Zielenska, and Ikuko Teshima. "Central neurocytoma: morphological, flow cytometric, polymerase chain reaction, fluorescence in situ hybridization, and karyotypic analyses." Journal of Neurosurgery 90, no. 2 (February 1999): 348–54. http://dx.doi.org/10.3171/jns.1999.90.2.0348.
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✓ The results of cytogenetic and molecular genetic analysis of a central neurocytoma are presented. Central neurocytomas are intriguing neoplasms that exhibit primarily neuronal, but also glial characteristics, which indicate an origin from a pluripotential neuroglial precursor. The authors describe an intraventricular neurocytoma in an 11-year-old boy that showed anaplastic features with widespread necrosis and mitoses, as well as extensive calcification and foci that exhibited marked neuronal differentiation with clusters of ganglion cells. Immunohistochemical examination showed prominent synaptophysin and neurofilament positivity and focal glial fibrillary acidic protein positivity. Electron microscopy revealed abundant neuritic processes with microtubules and dense core granules as well as mature ganglion cells. Flow cytometry studies revealed increased S (7.8%) and G2M (9.7%) phase components. Molecular and cytogenetic studies were undertaken to assess whether there were similarities to two other tumor types that exhibit neuronal differentiation, the neuroblastoma and medulloblastoma. Polymerase chain reaction and fluorescence in situ hybridization (FISH) analysis revealed no evidence of amplification of the MYCN oncogene or chromosome 1p deletion, which are common in neuroblastomas. Chromosomal analysis by G banding revealed a complex karyotype, with counts in the near-diploidy range (45–48). Two chromosomes 1 appeared normal on G banding and FISH analysis, with p58 signals present on the distal p arm of both chromosomes 1; however, three additional copies of distal 1q were present in rearrangements with 4 and 7. Although the histological findings indicate a kinship to the neuroblastoma and medulloblastoma, the central neurocytoma appears to have a different karyotypic profile, although more cases need to be assessed using molecular genetic analysis.
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Karamysheva, Tatyana V., Tatyana A. Gayner, Vladimir V. Muzyka, Konstantin E. Orishchenko, and Nikolay B. Rubtsov. "Two Separate Cases: Complex Chromosomal Abnormality Involving Three Chromosomes and Small Supernumerary Marker Chromosome in Patients with Impaired Reproductive Function." Genes 11, no. 12 (December 17, 2020): 1511. http://dx.doi.org/10.3390/genes11121511.
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For medical genetic counseling, estimating the chance of a child being born with chromosome abnormality is crucially important. Cytogenetic diagnostics of parents with a balanced karyotype are a special case. Such chromosome rearrangements cannot be detected with comprehensive chromosome screening. In the current paper, we consider chromosome diagnostics in two cases of chromosome rearrangement in patients with balanced karyotype and provide the results of a detailed analysis of complex chromosomal rearrangement (CCR) involving three chromosomes and a small supernumerary marker chromosome (sSMC) in a patient with impaired reproductive function. The application of fluorescent in situ hybridization, microdissection, and multicolor banding allows for describing analyzed karyotypes in detail. In the case of a CCR, such as the one described here, the probability of gamete formation with a karyotype, showing a balance of chromosome regions, is extremely low. Recommendation for the family in genetic counseling should take into account the obtained result. In the case of an sSMC, it is critically important to identify the original chromosome from which the sSMC has been derived, even if the euchromatin material is absent. Finally, we present our view on the optimal strategy of identifying and describing sSMCs, namely the production of a microdissectional DNA probe from the sSMC combined with a consequent reverse painting.