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Articoli di riviste sul tema "Genotype II"
1
Schaper, M., A. E. Durán e J. Jofre. "Comparative Resistance of Phage Isolates of Four Genotypes of F-Specific RNA Bacteriophages to Various Inactivation Processes". Applied and Environmental Microbiology 68, n. 8 (agosto 2002): 3702–7. http://dx.doi.org/10.1128/aem.68.8.3702-3707.2002.
Testo completoAbstract (sommario):
ABSTRACT The effect of natural inactivation in freshwater, chlorination, ammonia, extreme pHs, temperature, and salt content on phage inactivation was evaluated on mixtures of F-specific RNA bacteriophage isolates belonging to genotypes I, II, III, and IV. The bacteriophages studied were previously but recently isolated from natural samples, characterized as F-specific RNA bacteriophages and genotyped by plaque hybridization with genotype-specific probes. Natural inactivation in river water was modeled by in situ incubation of bacteriophages inside submerged dialysis tubes. After several days bacteriophages of genotype I showed the highest persistence, which was significantly different from that of bacteriophages of genotype II, IV, or III. The pattern of resistance of phages belonging to the various genotypes to extreme pHs, ammonia, temperature, salt concentration, and chlorination was similar. In all cases, phages of genotype I showed the highest persistence, followed by the phages of genotypes II, III, and IV. The phages of genotypes III and IV were the least resistant to all treatments, and resistance of genotypes III and IV to the treatments was similar. Bacteriophages of genotype II showed intermediate resistance to some of the treatments. The resistance of four phages of genotype I to natural inactivation and chlorination did not differ significantly. These results indicate that genotypes III and IV are much more sensitive to environmental stresses and to treatments than the other genotypes, especially than genotype I. This should be taken into consideration in future studies aimed at using genotypes of F-specific RNA bacteriophages to fingerprint the origin of fecal pollution.
2
Uzelac, Aleksandra, Ivana Klun, Vladimir Ćirković, Neda Bauman, Branko Bobić, Tijana Štajner, Jelena Srbljanović, Olivera Lijeskić e Olgica Djurković-Djaković. "Toxoplasma gondii Genotypes Circulating in Serbia—Insight into the Population Structure and Diversity of the Species in Southeastern Europe, a Region of Intercontinental Strain Exchange". Microorganisms 9, n. 12 (7 dicembre 2021): 2526. http://dx.doi.org/10.3390/microorganisms9122526.
Testo completoAbstract (sommario):
In Europe, Toxoplasma gondii lineage II is dominant, and ToxoDB#1 the most frequently occurring genotype. The abundance of lineage III genotypes varies geographically and lineage I are rare, yet present in several regions of the continent. Data on the T. gondii population structure in southeastern Europe (SEE) are scarce, yet necessary to appreciate the diversity of the species in Europe. To help fill this gap, we genotyped 67 strains from nine species of intermediate hosts in Serbia by MnPCR-RFLP, determined the population structure, and identified the genotypes using ToxoDB. A neighbor-joining tree was also constructed from the isolates genotyped on nine loci. While 42% of the total genotype population consisted of ToxoDB#1 and ToxoDB#2, variant genotypes of both lineages comprised 46% of the population in wildlife and 28% in domestic animals and humans. One genotype of Africa 4 lineage was detected in a human sample. Interestingly, the findings include one lineage III variant and one II/III recombinant isolate with intercontinental distribution, which appear to be moderately related to South American genotypes. Based on these findings, SEE is a region of underappreciated T. gondii genetic diversity and possible strain exchange between Europe and Africa.
3
Hashim, Amna, Marguerite Clyne, Grace Mulcahy, Donna Akiyoshi, Rachel Chalmers e Billy Bourke. "Host Cell Tropism Underlies Species Restriction of Human and Bovine Cryptosporidium parvum Genotypes". Infection and Immunity 72, n. 10 (ottobre 2004): 6125–31. http://dx.doi.org/10.1128/iai.72.10.6125-6131.2004.
Testo completoAbstract (sommario):
ABSTRACT It has been recognized recently that human cryptosporidiosis is usually caused by Cryptosporidium parvum genotype I (“human” C. parvum), which is not found in animals. Compared to C. parvum genotype II, little is known of the biology of invasion of the human-restricted C. parvum genotype I. The aims of the present study were (i) to explore and compare with genotype II the pathogenesis of C. parvum genotype I infection by using an established in vitro model of infection and (ii) to examine the possibility that host-specific cell tropism determines species restriction among C. parvum genotypes by using a novel ex vivo small intestinal primary cell model of infection. Oocysts of C. parvum genotypes I and II were used to infect HCT-8 cells and primary intestinal epithelial cells in vitro. Primary cells were harvested from human endoscopic small-bowel biopsies and from bovine duodenum postmortem. C. parvum genotype I infected HCT-8 cells with lower efficiency than C. parvum genotype II. Actin colocalization at the host parasite interface and reduction in levels of invasion after treatment with microfilament inhibitors (cytochalasin B and cytochalasin D) were observed for both genotypes. C. parvum genotype II invaded primary intestinal epithelial cells, regardless of the species of origin. In contrast, C. parvum genotype I invaded only human small-bowel cells. The pathogenesis of C. parvum genotype I differs from C. parvum genotype II. C parvum genotype I does not enter primary bovine intestinal cells, suggesting that the species restriction of this genotype is due to host tissue tropism of the infecting isolate.
4
van der Kleij, Frank G. H., Paul E. de Jong, Rob H. Henning, Dick de Zeeuw e Gerjan Navis. "Enhanced Responses of Blood Pressure, Renal Function, and Aldosterone to Angiotensin I in the DD Genotype Are Blunted by Low Sodium Intake". Journal of the American Society of Nephrology 13, n. 4 (aprile 2002): 1025–33. http://dx.doi.org/10.1681/asn.v1341025.
Testo completoAbstract (sommario):
ABSTRACT. Angiotensin-converting enzyme (ACE) activity is increased in the DD genotype, but the functional significance for renal function is unknown. Blunted responses of BP and proteinuria to ACE inhibition among DD renal patients during periods of high sodium intake were reported. It was therefore hypothesized that sodium status affects the phenotype in the ACE I/D polymorphism. The effects of angiotensin I (AngI) and AngII among 27 healthy subjects, with both low (50 mmol sodium/d) and liberal (200 mmol sodium/d) sodium intakes, were studied. Baseline mean arterial pressure (MAP) values, renal hemodynamic parameters, and renin-angiotensin system parameters were similar for all genotypes with either sodium intake level. With liberal sodium intake, the increases in MAP, renal vascular resistance, and aldosterone levels during AngI infusion (8 ng/kg per min) were significantly higher for the DD genotype, compared with the ID and II genotypes (all parameters presented as percent changes ± 95% confidence intervals), with mean MAP increases of 22 ± 2% (DD genotype), 13 ± 5% (ID genotype), and 12 ± 6% (II genotype) (P < 0.05), mean increases in renal vascular resistance of 100.1 ± 19.7% (DD genotype), 73.0 ± 16.3% (ID genotype), and 63.2 ± 16.9% (II genotype) (P < 0.05), and increases in aldosterone levels of 650 ± 189% (DD genotype), 343 ± 71% (ID genotype), and 254 ± 99% (II genotype) (P < 0.05). Also, the decrease in GFR was more pronounced for the DD genotype, with mean decreases of 17.9 ± 4.7% (DD genotype), 8.8 ± 3.4% (ID genotype), and 6.4 ± 5.9% (II genotype) (P < 0.05). The effective renal plasma flow, plasma AngII concentration, and plasma renin activity values were similar for the genotypes. In contrast, with low sodium intake, the responses to AngI were similar for all genotypes. The responses to AngII were also similar for all genotypes, with either sodium intake level. In conclusion, the responses of MAP, renal hemodynamic parameters, and aldosterone concentrations to AngI are enhanced for the DD genotype with liberal but not low sodium intake. These results support the presence of gene-environment interactions between ACE genotypes and dietary sodium intake.
5
Wu, Zhiliang, Isao Nagano, Thidarut Boonmars, Takumi Nakada e Yuzo Takahashi. "Intraspecies Polymorphism of Cryptosporidium parvum Revealed by PCR-Restriction Fragment Length Polymorphism (RFLP) and RFLP-Single-Strand Conformational Polymorphism Analyses". Applied and Environmental Microbiology 69, n. 8 (agosto 2003): 4720–26. http://dx.doi.org/10.1128/aem.69.8.4720-4726.2003.
Testo completoAbstract (sommario):
ABSTRACT A glycoprotein (Cpgp40/15)-encoding gene of Cryptosporidium parvum was analyzed to reveal intraspecies polymorphism within C. parvum isolates. Forty-one isolates were collected from different geographical origins (Japan, Italy, and Nepal) and hosts (humans, calves, and a goat). These isolates were characterized by means of DNA sequencing, PCR-restriction fragment length polymorphism (PCR-RFLP), and RFLP-single-strand conformational polymorphism (RFLP-SSCP) analyses of the gene for Cpgp40/15. The sequence analysis indicated that there was DNA polymorphism between genotype I and II, as well as within genotype I, isolates. The DNA and amino acid sequence identities between genotypes I and II differed, depending on the isolates, ranging from 73.3 to 82.9% and 62.4 to 80.1%, respectively. Those among genotype I isolates differed, depending on the isolates, ranging from 69.0 to 85.4% and 54.8 to 79.2%, respectively. Because of the high resolution generated by PCR-RFLP and RFLP-SSCP, the isolates of genotype I could be subtyped as genotypes Ia1, Ia2, Ib, and Ie. The isolates of genotype II could be subtyped as genotypes IIa, IIb, and IIc. The isolates from calves, a goat, and one Japanese human were identified as genotype II. Within genotype II, the isolates from Japan were identified as genotype IIa, those from calves in Italy were identified as genotype IIb, and the goat isolate was identified as genotype IIc. All of the genotype I isolates were from humans. The Japanese isolate (code no. HJ3) and all of the Nepalese isolates were identified as genotypes Ia1 and Ia2, respectively. The Italian isolates were identified as genotype Ib, and the Japanese isolate (code no. HJ2) was identified as genotype Ie. Thus, the PCR-RFLP-SSCP analysis of this glycoprotein Cpgp40/15 gene generated a high resolution that has not been achieved by previous methods of genotypic differentiation of C. parvum.
6
Nevrkla, Pavel, Zdeněk Hadaš, Pavel Horký e Vendula Kamanová. "Effect of Genotype and Sex of Piglets on Their Losses Before Weaning". Acta Universitatis Agriculturae et Silviculturae Mendelianae Brunensis 65, n. 3 (2017): 893–97. http://dx.doi.org/10.11118/actaun201765030893.
Testo completoAbstract (sommario):
The aim of the experiment was to analyze selected reproductive characteristics in sows and losses of piglets according to their age and to evaluate the effect of sex on survivability of piglets before weaning. The experimental observation involved 80 sows with their second litters (40 sows of genotye I and 40 sows of genotype II). The sows were mated with a boar of Danish Duroc. No significant difference was found between the evaluated genotypes of sows in numbers of live‑born piglets and reared piglets, however it is evident that better results were reached by the sows of the genotype II. Also the losses of piglets per litter were lower, by 0.65 piece (P ≤ 0.05). In sows of the genotype I a high correlation (P ≤ 0.01) was confirmed between the number of live‑born piglets and the number of reared piglets per litter (r = 0.750). Another correlation was found between the number of live‑born piglets and their losses before weaning (r = 0.716). Similar trend was observed in the genotype II, however without significant correlation between the number of live‑born piglets and the losses of piglets before weaning. The results also revealed that the piglets died mostly before the 14th day of age, while the losses of male piglets were more frequent than of female piglets. Losses of female piglets of the genotype I before the 14th day of age were 6.82 %, in the genotype II they were 3.01 %. In this period, the losses of male piglets reached 9.56 % in the genotype I and 4.49 % in the genotype II. From the 14th day to weaning the losses of female piglets counted 2.39 % vs. 0.75 %, the losses of male piglets 1.37 % vs. 2.88 %. The total losses from birth to weaning were 9.22 % vs. 3.76 % in female piglets and 10.92 % vs. 7.37 % in male piglets.
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Hernandez, Jonathan R., Shuling Liu, Chris L. Fredregill e Patricia V. Pietrantonio. "Impact of the V410L kdr mutation and co-occurring genotypes at kdr sites 1016 and 1534 in the VGSC on the probability of survival of the mosquito Aedes aegypti (L.) to Permanone in Harris County, TX, USA". PLOS Neglected Tropical Diseases 17, n. 1 (23 gennaio 2023): e0011033. http://dx.doi.org/10.1371/journal.pntd.0011033.
Testo completoAbstract (sommario):
Harris County, TX, is the third most populous county in the USA and upon detection of arboviruses Harris County Public Health applies insecticides (e.g., pyrethroid-based Permanone 31–66) against adults of Culex quinquefasciatus to prevent disease transmission. Populations of Aedes aegypti, while not yet a target of public health control, are likely affected by pyrethroid exposure. As this species is a vector of emerging arboviruses, its resistance status to Permanone and the kdr mutations in the voltage-gated sodium channel (VGSC) associated with pyrethroid resistance were investigated. We examined females of known genotype at the V1016I and F1534C sites (N = 716) for their genotype at the 410 amino acid position in the VGSC, and for the influence of their kdr genotype on survival to Permanone at three different distances from the insecticide source in field tests. Most females (81.8%) had at least one resistant L allele at the 410 position, being the first report of the V410L mutation in Ae. aegypti for Texas. When only genotypes at the 410 position were analyzed, the LL genotype exhibited higher survivorship than VL or VV. Out of 27 possible tri-locus kdr genotypes only 23 were found. Analyses of the probability of survival of tri-locus genotypes and for the V410L genotype using a multivariate logistic regression model including area, distance, and genotype found significant interactions between distance and genotype. When only the most common tri-locus genotypes were analyzed (LL/II/CC, 48.2%; VL/II/CC, 19.1%; and VV/II/CC, 10.1%) genotype had no effect on survival, but significant interactions of distance and genotype were found. This indicated that the V410L kdr allele increased survival probability at certain distances. Genotypes did not differ in survivorship at 7.62-m, but LL/II/CC had higher survivorship than VL/II/CC at 15.24- and 22.86-m. The model also identified differences in survivorship among the operational areas investigated.
8
Persson, Karin, Annette C. E. Säfholm, Rolf G. G. Andersson e Johan Ahlner. "Glyceryl trinitrate-induced angiotensin-converting enzyme (ACE) inhibition in healthy volunteers is dependent on ACE genotype". Canadian Journal of Physiology and Pharmacology 83, n. 12 (dicembre 2005): 1117–22. http://dx.doi.org/10.1139/y05-118.
Testo completoAbstract (sommario):
Evidence concerning the importance of angiotensin-converting enzyme (ACE) genotype in cardiovascular diseases is accumulating. The aim of this study was to investigate if nitric oxide (NO), generated from glyceryl trinitrate (GTN), affects human serum ACE activity in vivo, and if so, whether this effect was dependent on ACE genotype and (or) reflected in blood pressure reduction. A tablet containing 5 mg GTN was bucally administered for 5 minutes to 17 healthy volunteers. Blood pressure (BP) was recorded, and serum ACE activity, ACE genotype, and plasma cGMP was analyzed. GTN administration significantly reduced BP only in individuals with the deletion/deletion (DD) genotype. Sixty minutes after GTN administration, serum ACE activity was reduced in individuals with the insertion/insertion (II) and insertion/deletion (ID) genotypes, but not the DD genotype. Comparing the change in ACE activity over time between the genotypes resulted in the following: II vs. DD, p < 0.01; II vs. ID, p < 0.05; and ID vs. DD, p < 0.05. There was no significant difference in plasma cGMP content neither between the ACE genotypes nor before and after GTN administration. In conclusion, GTN inhibits serum ACE in vivo in individuals with the II and ID, but not the DD genotype.
9
Reed, Carrie, Gregory D. Sturbaum, Paul J. Hoover e Charles R. Sterling. "Cryptosporidium parvum Mixed Genotypes Detected by PCR-Restriction Fragment Length Polymorphism Analysis". Applied and Environmental Microbiology 68, n. 1 (gennaio 2002): 427–29. http://dx.doi.org/10.1128/aem.68.1.427-429.2002.
Testo completoAbstract (sommario):
ABSTRACT Combinations of 10 Cryptosporidium parvum oocysts, with various ratios of genotype I to genotype II, were isolated and subjected to PCR-restriction fragment length polymorphism analysis. Amplification of both genotypes in these samples ranged from 31 to 74% and yielded no information about the genotype proportions. In addition, since both genotypes were not always detected, amplification of a single genotype is not conclusive evidence that the sample contains only a single genotype.
10
Kruzliak, Peter, Gabriela Kovacova, Olga Pechanova e Stefan Balogh. "Association between Angiotensin II Type 1 Receptor Polymorphism and Sudden Cardiac Death in Myocardial Infarction". Disease Markers 35 (2013): 287–93. http://dx.doi.org/10.1155/2013/731609.
Testo completoAbstract (sommario):
Objective. The renin-angiotensin system is involved in the pathogenesis of coronary artery disease and myocardial infarction (MI). Angiotensin II (Ang II) has many adverse effects such as vasoconstriction and vascular remodeling, and these actions are mediated by the angiotensin II type 1 receptor (AT1R).Patients and Methods. A total of 1376 patients were recruited from January 2010 to April 2012. The study group consisted of 749 patients with ACS (317 females and 432 males) and of 627 healthy controls.Results. The ACS patients demonstrated a lower proportion of AA genotypes and AC genotypes but higher proportions of CC genotypes than the control population. The AT1R CC genotype conferred a 2.76-fold higher risk of MI compared with the genotype AC and AA. In addition, the CC genotype was also associated with a 4.08 times higher risk of left anterior descending artery infarction and a 3.07 times higher risk of anterior wall infarction. We also found that the CC genotype was independently associated with sudden cardiac death.In Summary. This study demonstrated that the AT1R CC genotype is an independent risk factor for ACS incidence, and this genotype is associated with a greater ACS severity and greater risk of sudden cardiac death.
Tesi sul tema "Genotype II"
1
Remiche, Gauthier. "Genotype-phenotype Correlation in Late-onset Glycogen Storage Disease Type II, Early Diagnosis and Prognostic Determinants". Doctoral thesis, Universite Libre de Bruxelles, 2016. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/227822.
Testo completoAbstract (sommario):
Glycogen storage disease type II (GSDII) is an autosomal recessive lysosomal storage disorder caused by acid alpha-1,4-glucosidase (GAA) deficiency. This study aimed to provide an in-depth description of a late-onset GSDII (LO-GSDII) cohort (n=36) and assess potential genotype-phenotype correlation. We performed a clinical record-based study, some patients (n= 19) were also followed prospectively. Phenotypes were highly variable. We focused our clinical assessment onrespiratory failure, as it is the most frequent cause of death in LO-GSDII. In addition to standard spirometric measures, in a subgroup of patients (n = 10) we utilized a new tool, optoelectronic plethysmography (OEP), to investigate the pathophysiology of respiratory muscle impairment.The GAA gene was sequenced in every patient, and pathogenic mutations were identified inall of them. Almost all (35/36) patients carried the same mutation on one allele, IVS1-32-13T>G, which was in compound heterozygosity with a variety of other GAA mutations. To investigate genotype-phenotype correlation, we divided the patient cohort in two groups, according to the severity of the mutation on the second allele. The respiratory function study focused on diaphragmatic weakness. According to the change in forced vital capacity in supine position (ΔFVC), we defined patients with ΔFVC>25% ashaving diaphragmatic weakness (DW) and those with ΔFVC<25% as without diaphragmatic weakness (noDW). We measured pulmonary function and chest wall volumes using OEP inboth groups. We found a good correlation between the supine abdominal contribution to tidal volume (%VAB) and ΔFVC. Patients showed reduced chest wall and abdominal inspiratory capacity and low abdominal expiratory reserve volume. In terms of genotype-phenotype correlation, we counted more subjects in the group with severe second mutations (n=21) who had severe motor disability and respiratory dysfunction. However, this finding remains preliminary because differences were not significant, likely because of small sample size. Finally, in two smaller substudies, we investigated the occurrence of urinary and fecal incontinence in LO-GSDII, and reported a possibly non-fortuitous association of LO-GSDII and hydromyelia in two individuals. Overall, this work 1) provided new insight into genotype-phenotype correlation in GSDII, suggesting that it is of complex nature; 2) refined the analysis of respiratory muscle impairment and showed the utility of OEP for respiratory assessment in this neuromuscular disorder, and possibly in others as well; 3) indicated some so far little studied phenotypic features of LO-GSD-II that deserve further investigation.Doctorat en Sciences médicales (Médecine)
info:eu-repo/semantics/nonPublished
2
Narayanan, Ram. "Genotype and phenotype interactions of the insulin-like growth factor system in type 2 diabetes". Thesis, University of Manchester, 2013. https://www.research.manchester.ac.uk/portal/en/theses/genotype-and-phenotype-interactions-of-the-insulinlike-growth-factor-system-in-type-2-diabetes(5e6925fb-195d-47d8-a06d-8957a8f3b86f).html.
Testo completoAbstract (sommario):
Background: Multiple lines of evidence implicate the insulin-like growth factor(IGF) group of proteins in human type 2 diabetes. The actions of IGF-I and IGF-IIare modulated through their interaction with IGF binding proteins. A holisticapproach to study the IGF system is preferable to analyses of individual proteininteractions as the inter-relationships between these proteins are complex. Inparticular, the associations of IGF-II and its associated binding proteins withcardiovascular risk have been inadequately studied. This study aimed to study indetail the genotype and phenotype interactions of the IGF system with longitudinalcardiovascular risk factor trends and phenotypic outcomes in type 2 diabetes.Methods: 1000 subjects of predominantly Caucasian origin from the SalfordDiabetes Cohort were studied. Measurements of IGF proteins (IGF-I, IGF-II,IGFBP-1, IGFBP-2 and IGFBP-3) were performed in 554 of these patients. 991Caucasian subjects were successfully genotyped for 76 single nucleotidepolymorphisms (SNPs) related to ten genes in the IGF system. In this project weanalysed associations of the studied SNPs with the measured IGF proteins as well aslongitudinal risk factor trends. In addition, the baseline concentrations of themeasured proteins were studied for associations with cardiovascular risk factortrends and vascular outcomes.Results: This project demonstrates for the first time that high serum IGF-IIconcentration at baseline predicts longitudinal increases in high-density lipoproteincholesterol. High baseline IGF-II was also observed to predict longitudinal weightloss. High baseline concentration of IGFBP-2 (which has a preferential associationof IGF-II over IGF-I) was associated with a number of favourable longitudinalcardiovascular risk trends like increased HDL cholesterol and decreased diastolicblood pressure. However high IGFBP-2 was also associated with deterioration inrenal function and increased all-cause and cardiovascular mortality. The IGF2 geneand the genes encoding IGFBP-2 and IGFBP-5 (proteins with IGF-II bindingaffinity) were also associated with longitudinal trends in renal function, bloodpressure and cholesterol concentration.Discussion: This study is the most detailed exploration to date of the genotype andphenotype interactions of the IGF system in a Caucasian population with type 2diabetes. Results from this study strongly hint that changes in IGF-II bioavailabilitymay influence inter-individual variations in cardiovascular risk. The precisebiological role of IGF-II merits clarification in future expression studies in renal,adipose and vascular tissues. Replication of significant results in an independentdiabetes cohort and measurement of other IGF binding proteins will be performed inthe next stage of this study.
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Segura, Puimedon Maria 1985. "Use of mouse models to establish genotype-phenotype correlations in Williams-Beuren syndrome". Doctoral thesis, Universitat Pompeu Fabra, 2012. http://hdl.handle.net/10803/101408.
Testo completoAbstract (sommario):
Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused by the common
deletion of 26-28 contiguous genes in the 7q11.23 region, which poses difficulties to the
establishment of genotype-phenotype correlations. The use of mouse models would broader the
knowledge of the syndrome, the role of deleted genes, affected pathways and possible treatments.
In this thesis project, several mouse models, tissues and cells have been used to define the
phenotypes at different levels, the deregulated genes and pathways and to discover modifying
elements and novel treatments for the cardiovascular phenotype. In addition, a new binding motif
has been described for Gtf2i, a deleted gene encoding a transcription factor with a major role in
WB, providing new target genes from deregulated pathways. The obtained results reveal the
essential role of mouse models for the study of Williams-Beuren syndrome and provide new
treatments options and affected pathways and genes which could be future treatment targets.La síndrome de Williams-Beuren és una malaltia del neurodesenvolupament causada per una deleció comú d’entre 26 i 28 gens contigus a la regió 7q11.23, dificultant l’establiment de relacions genotip-fenotip. L’ús de models de ratolí pot augmentar el coneixement sobre la malaltia, el paper dels gens delecionats, les vies moleculars afectades i els futurs tractaments. En aquesta tesi s’han usat diversos models de ratolí, les seves cèl·lules i teixits per tal de descriure i definir fenotips, gens i vies moleculars desregulades i per descobrir elements modificadors i nous tractaments. Per últim, s’ha definit un nou motiu d’unió per Gtf2i, uns dels gens delecionats que codifica per un factor de transcripció amb un rol central en la síndrome, proporcionats possible nous gens diana de vies moleculars desregulades. Els resultats obtinguts revelen el paper essencial dels models de ratolí per a l’estudi de la síndrome de Williams-Beuren, proporcionen noves opcions terapèutiques i defineixen nous gens i vies moleculars afectades que podrien suposar noves dianes terapèutiques.
4
Al-Daccak, Reem. "Etude de la variabilite des genes hla-classe ii : relation phenotype-genotype et application a la greffe de moelle". Paris 7, 1990. http://www.theses.fr/1990PA077235.
Testo completoAbstract (sommario):
Le polymorphisme hla-classe ii, sa definition au niveau genomique et son importance fonctionnelle constituent les objectifs de ce travail. L'etude du polymorphisme de taille des fragments de restriction (rflp) a montre que la technologie rflp permettait de caracteriser la majorite des alleles hla-dr, dq et dp. Une autre methode de biologie moleculaire (pcr-rflp) plus rapide, plus precise et non radioactive est presentee dans ce travail. Elle est basee sur la caracterisation des fragments de restriction apres amplification de l'exon le plus polymorphe des genes. Cette technique a permis une etude de la molecule hla-dp dans la population caucasoide c'est-a-dire frequence des differents alleles, association des genes dpa et dpb. Notre travail a montre que les rflp, bien qu'etant un typage au niveau genomique, permettent de predire dans la majorite (95,23%) des cas les resultats des reactions lymphocytaires mixtes. Elle a egalement montre la capacite de la molecule hla-dp de provoquer une proliferation au cours d'une mlr primaire. Neanmoins, certaines incompatibilites hla-classe ii ne provoquent pas de proliferation en mlr malgre les differences dans leur sequence primaire. Cela suggere que le polymorphisme dans certains cas est non-fonctionnel dans les reactions allogeniques in vitro. L'evaluation de la compatibilite hla-classe ii dans les greffes de moelle entre germains hla-identiques montre que en face de l'identite genetique hla-dr, dq l'incompatibilite hla-dp entre donneur et receveur ne semble pas jouer un role important sur l'evolution de ce type de greffe. Par contre cette molecule semble importante dans les greffes de moelle non-apparentees, bien qu'une correlation significative entre la maladie du greffon contre l'hote et les incompatibilites hla-dp n'ai pas pu etre mise en evidence du fait du nombre trop faible de cas etudies. Quoi qu'il en soit, les techniques developpees dans ce travail ont apporte beaucoup aux greffes de moelle entre sujets non-apparentes en permettant le choix du donneur le plus identique au receveur
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Cellier, Gilles. "Description des écotypes du phylotype II dans le complexe d'espèces Ralstonia solanacearum : diversité et évolution". Phd thesis, Université de la Réunion, 2010. http://tel.archives-ouvertes.fr/tel-00716870.
Testo completoAbstract (sommario):
Le modèle étudié est l'agent phytopathogène vasculaire Ralstonia solanacearum, en portant une attention particulière aux souches de phylotype II. Cette bactérie d'origine tellurique est très diversifiée, tant au plan génétique que phénotypique. Sa classification en constante évolution témoigne d'une volonté de clarifier cette biodiversité inhabituellement forte, tout en cherchant à reconnaître les écotypes structurant ce complexe d'espèces, i.e., des groupes de souches partageant à la fois des traits génotypiques et biologiques spécifiques. Dans le cadre de ce pathosystème modèle, nous nous sommes attachés dans un premier temps à revisiter de façon précise les pathotypes au sein d'écotypes bien décrits dans la littérature, ou à en faire la description (phylotype III africain). Nous avons observé une forte convergence phénotypique entre les souches de phylotype III des hauts plateaux africains et les souches Brown rot de phylotype IIB-1, capables de flétrir la pomme de terre et d'autres Solanacées à température froide. L'adaptation de souches aussi diverses pour la tolérance au froid nous a conduits à dresser un bilan de la situation R. solanacearum en Europe et in extenso dans le bassin méditerranéen. Cette approche a permis d'apprécier les degrés de divergence significative dans le pouvoir pathogène (virulence et agressivité) sur Solanaceae au sein de souches quasi clonales unifiant l'écotype Brown rot, qui s'établissent aussi sous forme d'infections latentes dans les tissus vasculaires de bananiers (Musacées). Dans le même temps, le phénotype de souches pathogènes du bananier, unifiant l'écotype Moko, a aussi été revisité sur Solanaceae qu'elles parviennent à flétrir, y compris des ressources génétiques résistantes au flétrissement bactérien. L'ensemble de ces données expérimentales a permis de dégager les critères de sélection pour le choix de trois nouvelles souches du complexe d'espèces R. solanacearum, dont nous avons obtenu les séquences génomiques. Notre approche en génomique comparative a permis de décrire le premier pangénome chez cet agent pathogène : l'ensemble les gènes repérés de l'espèce. Ces données ont été exploitées par différentes approches bio-informatiques et permettent de concevoir une refonte pertinente du complexe d'espèces R. solanacearum en trois nouvelles espèces génomiques, regroupant les souches de phylotypes I (Asie) et III (Afrique) d'une part, puis les souches de phylotype II (Amérique), et enfin les souches de phylotype IV (Indonésie) d'autre part. Ce pangénome a ensuite été exploité en concevant et développant une puce à ADN, un outil permettant l'exploration à haut débit d'une grande quantité de souches. La densité des données expérimentales accumulées permet une démarche vers l'écologie moléculaire et de reconstituer certains pans du passé évolutif des souches de phylotype II chez R. solanacearum. Par ailleurs, l'analyse approfondie de ces données de génomique, associant phylogéographie et structuration des populations de l'écotype Brown rot, montre une double situation épidémiologique en Europe, recoupant des influences andines et africaines. De la même façon, l'écotype Moko présente trois structures génétiques distinctes. Ces données ont été analysées de manière à retracer les principaux flux de gènes dans les états ancestraux des phylotypes et de dégager la forte contribution de la partie mobile du génome, des gènes relatifs à l'adaptation environnementale et à la pathogénie, comme moteurs dans l'évolution de cet important organisme phytopathogène.
6
Matsunaga, Erika Midoli. "Distribuição do tipo de fibras musculares e sua correlação genotípica na doença de Pompe". Universidade de São Paulo, 2009. http://www.teses.usp.br/teses/disponiveis/5/5138/tde-29042009-102848/.
Testo completoAbstract (sommario):
A doença de Pompe (GSDII), autossômica recessiva, é causada pela deficiência da enzima lisossomal que degrada o glicogênio, -glucosidase ácida (GAA). O quadro clínico varia de acordo com a idade de início da doença, grau de progressão e envolvimento dos tecidos: predominantemente cardíaco e muscular esquelético na forma de início-precoce (FIP) e mais restrito no músculo esquelético na forma de início-tardio (FIT). A sobrevida média na FIP é de 9-12 meses. Com avanço dos métodos histológicos, histoquímicos e imunoistoquímicos intensificou-se a análise estrutural e funcional dos tipos de fibras musculares. O estudo da vascularização também é de importância pelo aporte nutricional e funcional das fibras. O objetivo do presente trabalho é analisar a correlação da distribuição do tipo de fibras com a forma de apresentação clínica da doença de Pompe, seu genótipo correspondente e a quantidade residual da enzima GAA. Analisou-se 10 biópsias musculares de pacientes FIP e 09 de FIT comparados com o grupo controle, pareados por idade e gênero. Os pacientes foram selecionados segundo dados clínicos e laboratoriais, sendo feito o seqüenciamento de toda parte codificante do gene e Western Blotting (WB) com anticorpo monoclonal 15362-157, cedido pela Genzyme (primário 1:200 e secundário 1:10.000). A confirmação do diagnóstico foi feita através da medida da atividade residual de GAA em papel filtro, da presença de miopatia vacuolar com grânulos PAS e fosfatase ácida positivos em biópsia muscular e pela presença de mutação no gene GAA. A reação de imunoistoquímica foi realizada para fibras tipo I (lenta), tipo II (rápida) e densidade capilar (ulex), utilizando anticorpos monoclonais, respectivamente: antimiosina lenta (1:80), anti-miosina rápida (1:40) da Novocastra e ulex da Vector (1:800). A contagem das fibras foi realizada por 2 observadores em todo fragmento do corte transversal da biópsia com auxílio de um programa semi-automatizado. Observou-se predomínio de fibras tipo II em ambos os gêneros na FIP e predomínio de fibras tipo I em mulheres e tipo II em homens, na FIT. Aumento da densidade capilar, em comparação com os controles, foi notada em ambas as formas IP e IT. Verificou-se em média 90% de fibras vacuoladas nos casos FIP com completa distorção da arquitetura, enquanto na FIT, a porcentagem de fibras vacuoladas foi variável (0-88%). Como alguns genes constitutivos influenciam na distribuição das fibras musculares, como o gene ACE, o polimorfismo deste gene foi analisado quanto aos genótipos I/I, D/D e I/D. Observou-se ausência de concordância entre o genótipo do ACE e a distribuição de fibras em 60% dos casos da FIP e FIT, atribuindo-se o resultado da distribuição do tipo de fibras como parte da patologia da doença de Pompe. A gravidade da doença variou inversamente com a quantidade de enzima residual, sendo compatível com o quadro clínico do paciente. A presença de mutação deletéria em ambos os alelos foi observada em 3/10 casos de IP, sendo que todos os 3 casos apresentaram ausência total de enzima no WB. Há maior envolvimento de fibras tipo II em GSDII, sem depleção da microcirculação muscular. Estudos demonstram que a remoção do depósito de glicogênio ocorre diferencialmente nos tipos de fibra, sendo menos eficiente nas fibras tipo II. O achado do presente estudo poderá ter implicações na resposta à recente terapêutica proposta por reposição enzimática.The glycogen storage disease type II (GSDII), autosomal recessive disorder, is caused by the deficiency of GAA (acid -glucosidase) a lysossomal enzyme that degrades the glycogen. The clinical findings are in accordance to great variability of age onset, degree of disease progression and extent of tissue involvement: predominantly cardiac and skeletal muscle in the infantile form (I) and more restricted to the skeletal muscle in the late-onset form (LO). The average survival time of the infantile form is 9-12 months. With advances of the histological, histochemical and imunohistochemical methods structural and functional analysis of muscle fiber types were intensified. The study of the capillary density is also important for nutritional and functional aspects. The objective of the present work is to analyze the correlations of the fiber type distribution to clinical presentation, genotype and residual GAA enzymatic activity. We analyzed 10 muscle biopsies of infantile and 09 of late-onset patients and compared to age and gender matched controls. The patients were selected according to clinical and laboratorial data, molecular diagnosis by full gene sequencing, and Western Blotting (WB) with monoclonal antibody 15362-157, courtesy Genzyme Science Group (primary 1:200 and secondary 1:10.000). Diagnostic confirmation was made by GAA enzymatic measurement in DBS, presence of vacuolar myopathy in muscle biopsy, and presence of mutation in GAA gene. The imunohistochemical study was carried out by detection of type I (slow), type II (fast) fibers and capillaries, using monoclonal antibodies, respectively: anti-slow myosin (1:80), anti-fast myosin (1:40) (Novocastra) and ulex (1:800) (Vector). Morphometry was performed by 2 observers using a half-automatized program. Type II fiber predominance was observed in both gender in the infantile form, type I fiber predominance in women and type II predominance in men with LO. Increase of the capillary density, in comparison to controls was noticed in both forms. 90% of vacuolated fibers with complete distortion of fiber architecture were demonstrated in I cases, while in LO, the percentage of vacuolated fibers ranged from 0 to 88%. As some constitutive gene, like ACE, influence muscle fiber distribution, its polymorphisms I/I, D/D and I/D gene were analyzed. Absence of agreement was observed between ACE genotype and fiber type distribution in 60% of I and LO cases, which was attributed as consequence of Pompe disease pathology itself. The disease severity varied inversely to the amount of residual GAA enzymatic activity, being compatible with the patient clinical findings. The presence of deleterious mutation in both alleles was observed in 3/10 infantile cases, and all 3 presented total enzyme absence at WB. A greater fiber type II involvement was observed in GSDII, without decrease in muscle capillary density. Recent studies demonstrated that glycogen deposit removal occurs distinctively in different fiber types, being less efficient in type II fibers. The present findings might have implications in the reply to the recent proposed enzyme replacement therapy.
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Zebrick, Brian Matthew. "ACTN3 R577X GENOTYPES ASSOCIATE WITH CLASS II AND DEEP BITE MALOCCLUSIONS". Master's thesis, Temple University Libraries, 2015. http://cdm16002.contentdm.oclc.org/cdm/ref/collection/p245801coll10/id/329277.
Testo completoAbstract (sommario):
Oral BiologyM.S.
Alpha-actinins are myofibril anchor proteins, which influence contractile properties of skeletal muscle. ACTN2 is expressed in slow type I and fast type II fibers whereas ACTN3 is expressed only in fast fibers. ACTN3 homozygosity for the 577X stop codon (i.e. changing 577RR to 577XX - the R577X polymorphism) results in the absence of alpha-actinin-3 in about 18% of Europeans, diminished fast contractile ability, enhanced endurance performance, and reduced bone mass or bone mineral density. We have examined ACTN3 expression and genetic variation in masseter muscle of orthognathic surgery patients to determine genotype associations with malocclusion. To determine the associations between genotypes and malocclusions, clinical information, masseter muscle biopsies, and saliva samples were obtained from 60 subjects. Genotyping for ACTN3 SNPs, RT-PCR quantitation of muscle gene message, and muscle morphometric fiber type properties were compared to determine statistical differences between genotype and phenotype. We found muscle mRNA expression level was significantly different for ACTN3 SNP genotypes (p<0.01). The frequency of ACTN3 genotypes was significantly different for sagittal and vertical classifications of malocclusion with the clearest association being elevated 577XX genotype in skeletal Class II malocclusion (p = 0.003). This genotype also resulted in significantly smaller diameter of fast type II fibers in masseter muscle (p=0.002). In conclusion, ACTN3 577XX is overrepresented in skeletal Class II malocclusion, suggesting a biologic influence during bone growth. ACTN3 577XX is underrepresented in deep bite malocclusion, suggesting muscle differences contribute to variations in vertical facial dimensions.
Temple University--Theses
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Sardi, Janaina de Cassia Orlandi. "Análise genética e dos fatores de virulência de isolados clínicos de Candida albicans de pacientes com periodontite crônica portadores de diabetes mellitus tipo II". [s.n.], 2010. http://repositorio.unicamp.br/jspui/handle/REPOSIP/288639.
Testo completoAbstract (sommario):
Orientadores: Reginaldo Bruno Gonçalves, Cristiane DuqueTese (doutorado) - Universidade Estadual de Campinas, Faculdade de Odontologia de Piracicaba
Made available in DSpace on 2018-08-16T07:13:26Z (GMT). No. of bitstreams: 1 Sardi_JanainadeCassiaOrlandi_D.pdf: 1215494 bytes, checksum: 51470817af2a54ba8f45aa4374a2e52f (MD5) Previous issue date: 2010
Resumo: Candida spp. são leveduras comensais que habitam diferentes sítios da cavidade bucal. Em indivíduos saudáveis, sem alterações imunológicas, esses microrganismos não causam doença. Entretanto, diante de condições imunossupressoras, essas leveduras podem se tornar mais virulentas e expressar patogenicidade. Espécies de Candida apresentam diversos fatores de virulência, incluindo mecanismos de adesão e invasão celular associado à produção de enzimas que auxiliam na degradação tecidual e facilitam sua proliferação na mucosa bucal. Estudos têm demonstrado a presença de Candida sp. em sítios periodontais de pacientes com periodontite crônica, principalmente quando estes são imunologicamente comprometidos. Entretanto, ainda é desconhecido o papel desses microrganismos na patogênese da doença periodontal. Os objetivos do presente trabalho foram: 1) identificar a presença de espécies de Candida e periodontopatógenos por PCR em sítios bucais de pacientes diabéticos ou não com periodontite crônica; 2) isolar cepas de Candida albicans desses pacientes e avaliá-las quanto à atividade das enzimas proteinase, fosfolipase e hemolisina e os graus de hidrofobicidade da superfície celular, sob diferentes condições atmosféricas, além de realizar a análise genotípica desses isolados; 3) avaliar a capacidade de adesão e invasão de cepas de Candida albicans com diferentes graus de hidrofobicidade, em fibroblastos gengivais humanos. As reações de PCR mostraram que os diabéticos tiveram maior prevalência de Candida spp. principalmente C. albicans e C. dubliniensis, e menor freqüência de Tannerella forsythia, quando comparado aos pacientes não diabéticos, para bolsa periodontal e furcas. C. glabrata e C. tropicalis não foram encontradas em sítios periodontais de pacientes não diabéticos. Dos pacientes diabéticos, foram isoladas 128 cepas de C. albicans, das quais 51.6% foram determinadas como genótipo B e 48.4% como genótipo A. As condições ambientais consideradas neste estudo, níveis reduzidos de oxigênio ou anaerobiose, não modificaram o tipo de hemólise realizado pelo microrganismo, sendo que a maioria das cepas foi alfa-hemolítica. Nesses ensaios, 100% das cepas em anaerobiose apresentaram as colônias rugosas, enquanto que em ambiente de oxigênio reduzido, houve variação em relação à morfologia e a maioria delas apresentou colônia lisa. Com relação à atividade de proteinase e fosfolipase, cepas de C. albicans não produziram as enzimas na ausência total de oxigênio. Em ambiente com nível reduzido de oxigênio, a maioria das cepas de C. albicans foram fortemente produtoras de proteinase e a maioria das cepas foi positiva para fosfolipase. A hidrofobicidade foi mais alta na condição de anaerobiose. A partir desses resultados, foram selecionadas 16 cepas com alta ou baixa hidrofobicidade e avaliadas quanto à capacidade de adesão e invasão em fibroblastos gengivais humanos. Foi verificado que ambos os processos foram maiores nas cepas com alta hidrofobicidade. A produção de óxido nítrico foi maior para as cepas mais hidrofóbicas. Os resultados demonstraram que as espécies de Candida podem ser encontradas, em grande proporção, em bolsas periodontais e furcas de pacientes portadores de periodontite crônica, principalmente naqueles acometidos por diabetes mellitus. A maioria das cepas de C. albicans apresentou atividade enzimática, que atuaria diretamente na degradação tecidual. Além disso, a hidrofobicidade das cepas de C. albicans mostrou estar relacionada à maior capacidade de adesão e invasão em fibroblastos. Todos esses fatores de virulência aumentam a patogenicidade da Candida, que poderia colaborar na progressão da doença periodontal, principalmente em pacientes imunodeficientes
Abstract: Candida spp. are commensal yeasts that inhabit different sites of the oral cavity. In healthy subjects, without immunological alterations, these microorganisms do not cause disease. However, in immunosuppressive conditions, these yeasts can become more virulent and express pathogenicity. Candida species have different virulence factors, including mechanisms of cell adhesion and invasion associated with the production of enzymes that facilitate tissue degradation and their proliferation in oral mucosa. Studies have shown the presence of Candida spp. in periodontal sites of patients with chronic periodontitis, especially when they are immunologically compromised. However is still unknown their role in the pathogenesis of periodontal disease. The objectives of this study were: 1) to identify the presence of Candida species and putative periodontopathogens by PCR in periodontal sites of diabetic or non-diabetic patients with chronic periodontitis; 2) to isolate strains of Candida albicans in these patients and evaluate the proteinase, phospholipase and haemolysin activities and degrees of cell surface hydrophobicity under different atmospheric conditions, besides to performe the genotypic analysis of these isolates; 3) to evaluate the ability of adhesion and invasion of Candida albicans strains with different degrees of hydrophobicity, in human gingival fibroblasts. The PCR reactions revealed that diabetics had higher prevalence of Candida spp., mainly C. albicans and C. dubliniensis, and lower T. forsythia frequency, when compared to non-diabetic patients, for both periodontal sites. C. glabrata and C. tropicalis were not found in periodontal pockets and furcation sites of non-diabetic patients. From diabetic patients, it was isolated 128 strains of C. albicans and 51.6% were determined as genotype B and 48.4% as genotype A. The atmospheric conditions, reduced oxygen and anaerobiosis, did not change the type of hemolysis, and the most of strains were alpha-hemolytic. From these assays, 100% of the strains under anaerobiosis showed rough colonies, whereas in an environment with reduced oxyen was no change in relation to morphology and most of them had smooth colony. Considering proteinase and phospholipase activities, C. albicans strains did not produce the enzymes in the total absence of oxygen. In reduced oxygen, the majority of C. albicans strains were strong proteinase producers and most strains were positive for phospholipase. Hydrophobicity was higher in anaerobic condition. From these results, 16 hydrophobic or hydrophilic strains were selected and evaluated their ability of adhesion and invasion in human gingival fibroblasts. Both processes were greater in strains with high hydrophobicity. The production of nitric oxide was higher for hydrophobic strains. The results showed that Candida species can be found in large proportion, in periodontal pockets and furcation of patients with chronic periodontitis, especially diabetics. The most of C. albicans strains showed enzymatic activity, which could act directly on tissue degradation. Moreover, the hydrophobicity of C. albicans seems to be related to higher capacity of adhesion and invasion in fibroblasts. All these virulence factors enhance the pathogenicity of Candida that could collaborate for the progression of periodontal disease
Doutorado
Microbiologia e Imunologia
Doutor em Biologia Buco-Dental
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Luna, Ruiz Jose de Jesus 1959. "The crown system of barley: I. Temperature, seeding depth and genotypic effects II. Classification and description". Thesis, The University of Arizona, 1992. http://hdl.handle.net/10150/291560.
Testo completoAbstract (sommario):
Little is known about the crown system and its association with plant growth and development in spring cereals. This study investigated temperature, seeding depth and genotypic effects on crown development of barley; relationships between crown and seminal root systems; and classification and description of crown systems under deep seeding. Two greenhouse experiments were performed using PVC tubes. Low temperature and deep seeding reduced percentage and rate of emergence but increased crown number, crown depth, and crown weight in most genotypes. Crown number, crown depth and crown weight showed increased associations with seminal root, whole root, and shoot weight at low temperature and deep seeding in most genotypes. Deep plantings showed that crown systems of barley can be classified as unicrown, bicrown and multicrown types with some variants. One line produced plants with no subcrown internode under 12.5 cm planting. Our results suggested that the crown is a potential source of crown roots and tillers.
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Zhao, Qun. "Genetic markers for genes encoding Pit-1, GHRH-receptor, and IGF-II, and their association with growth and carcass traits in beef cattle". The Ohio State University, 2002. http://rave.ohiolink.edu/etdc/view?acc_num=osu1039153984.
Testo completoLibri sul tema "Genotype II"
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Turner, Neil, e Bertrand Knebelmann. MYH9 and renal disease. A cura di Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0342_update_001.
Testo completoAbstract (sommario):
MYH9 encodes one of three heavy chain isoforms for the non-muscle myosin II (NM II) molecule. NM II is involved in cell structure and shape and motility. Myosin II is very widely expressed but MYH9 is highly expressed in podocytes. MYH9 diseases are characterized by various combinations of autosomal dominant progressive, proteinuric renal disease, giant platelets with low platelet counts, progressive sensorineural hearing impairment, granulocyte inclusions, and in some patients also cataracts. Although the eponyms Epstein and Fechtner have been given to MYH9 renal syndromes, there is a spectrum of manifestations of MYH9 diseases that do not correlate perfectly with genotype. They are best described as MYH9-associated renal disease. The occurrence of progressive deafness and renal failure led to this condition being considered an Alport syndrome variant in the past, but phenotype as well as molecular genetics clearly separate the disorders.
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Mammoser, Aaron. Infiltrative Astrocytomas. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0126.
Testo completoAbstract (sommario):
Diffuse astrocytomas are WHO grade II astrocytomas that are distinguished from other WHO grade I and II astrocytomas because they are infiltrative, incurable, and have an intrinsic tendency to undergo malignant transformation to an anaplastic astrocytoma or a secondary glioblastoma. They are most often diagnosed in young adults in their 30s and 40s, and have a genetic profile that is different than primary glioblastoma. Anaplastic astrocytomas frequently arise from diffuse astroctyomas and share many of the same molecular abnormalities but tend to acquire more as they inevitably progress to glioblastoma. Recent studies identified mutations associated with WHO grade II and III tumors that predict a progression to a secondary glioblastoma with a better overall prognosis than primary glioblastoma. WHO grade II and III tumors that do not exhibit this typical mutation pattern often behave more aggressively than their counterparts, with a worse prognosis than higher grade tumors with a more favorable genotype.
Capitoli di libri sul tema "Genotype II"
1
Yamauchi, Masayoshi, Masao Nakahara, Hisato Nakajima, Junnichi Hirakawa, Gotaro Toda e Kiyoshi Fujisawa. "Close Correlation Between the Rate of Mortality Due to Hepatocellular Carcinoma and the Carrier Rate of HCV, Especially HCV Genotype II (or 1b)". In Viral Hepatitis and Liver Disease, 710–12. Tokyo: Springer Japan, 1994. http://dx.doi.org/10.1007/978-4-431-68255-4_187.
Testo completo
2
Chayama, Kazuaki, Akihito Tsubota, Yasuji Arase, Satoshi Saitoh, Kenji Ikeda, Isao Koida, Tsutoh Morinaga e Hiromitsu Kumada. "High Virus Titer, Slow Virus Decrease, Genotype II, and Sequence Variability of E2/NS1 HVR Predict Poor Response to Interferon Therapy in Chronic Hepatitis C". In Viral Hepatitis and Liver Disease, 617–20. Tokyo: Springer Japan, 1994. http://dx.doi.org/10.1007/978-4-431-68255-4_161.
Testo completo
3
Nair, Sudha K., Pervez Haider Zaidi, Madhumal Thayil Vinayan e Gajanan Saykhedkar. "Physiological and molecular mechanisms underlying excess moisture stress tolerance in maize: molecular breeding opportunities to increase yield potential." In Molecular breeding in wheat, maize and sorghum: strategies for improving abiotic stress tolerance and yield, 295–317. Wallingford: CABI, 2021. http://dx.doi.org/10.1079/9781789245431.0017.
Testo completoAbstract (sommario):
Abstract Understanding the impact of excess moisture (EM) on maize plants at various growth stages, and studying the phenological, physiological and molecular responses of tolerant maize genotypes towards adaptation to EM stress, could help define ways in which this trait could be improved through targeted breeding. Thus, this chapter discusses the (i) impact of EM stress on maize plants, (ii) phenological adaptations and physiological mechanisms leading to EM stress tolerance in maize, and (iii) molecular signature of EM stress tolerance. Genetic studies on EM stress tolerance in maize are presented, and the application of molecular mreeding for EM tolerance in maize is described.
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Singh, Ishwar, Krishan Kumar, Prabha Singh, Pranjal Yadava e Sujay Rakshit. "Physiological and molecular interventions for improving nitrogen-use efficiency in maize." In Molecular breeding in wheat, maize and sorghum: strategies for improving abiotic stress tolerance and yield, 325–39. Wallingford: CABI, 2021. http://dx.doi.org/10.1079/9781789245431.0019.
Testo completoAbstract (sommario):
Abstract This chapter discusses (i) the importance of nitrogen in plant growth and development, (ii) what is nitrogen-use efficiency (NUE) and how to manage it, (iii) traits influencing nitrogen-uptake efficiency including root system architecture, root nitrogen transporter system, and interaction with microorganisms, (iv) traits influencing nitrogen-utilization efficiency, such as nitrate assimilation, canopy photosynthesis per unit of nitrogen, (v) identification and use of quantitative trait loci (QTLs) related to NUE, (vi) identification of nitrogen-responsive genes, and (vii) nitrogen signalling and transduction for improving NUE. Intensive research on molecular and genetic aspects of NUE has led to the identification of many new genes, QTLs and alleles that could be deployed to develop new genotypes. The future direction of the research efforts should be towards understanding the interaction of NUE-related genes with cellular small RNA flux and perturbing the system performance through metabolic engineering and genome editing techniques.
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Hanoulle, Xavier, Isabelle Huvent, Arnaud Leroy, Hong Ye, Cong Bao Kang, Yu Liang, Claire Rosnoblet, Jean-Michel Wieruszeski, Ho Sup Yoon e Guy Lippens. "The NS5A Domain II of HCV: Conservation of Intrinsic Disorder in Several Genotypes". In Flexible Viruses, 409–24. Hoboken, NJ, USA: John Wiley & Sons, Inc., 2011. http://dx.doi.org/10.1002/9781118135570.ch15.
Testo completo
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Hobæk, Anders, e Hans Georg Wolf. "Ecological genetics of Norwegian Daphnia. II. Distribution of Daphnia longispina genotypes in relation to short-wave radiation and water colour". In Biology of Cladocera, 229–43. Dordrecht: Springer Netherlands, 1991. http://dx.doi.org/10.1007/978-94-017-0918-7_22.
Testo completo
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Zhou, Chen-guang, Yuan-yuan Tan, Sophia Gossner, You-fa Li, Qing-yao Shu e Karl-Heinz Engel. "Impact of cross-breeding on the metabolites of the low phytic acid rice mutant Os-lpa-MH86-1." In Mutation breeding, genetic diversity and crop adaptation to climate change, 433–43. Wallingford: CABI, 2021. http://dx.doi.org/10.1079/9781789249095.0044.
Testo completoAbstract (sommario):
Abstract Phytic acid (myo-inositol-1,2,3,4,5,6-hexakisphosphate), the major storage form of phosphorus in cereals, is considered as an antinutrient in food and feed. During the past few years, various cereals have been subjected to mutation breeding for generating low phytic acid (lpa) crops. Recently, it was demonstrated that reduction of phytic acid in the rice mutant Os-lpa-MH86-1 obtained by gamma irradiation was due to a disruption of OsSULTR3;3, an orthologue of the sulfate transporter family group 3 genes. The application of a GC/MS-based metabolite profiling approach revealed that the reduction of phytic acid was accompanied by changes in concentrations of metabolites from different classes in the Os-lpa-MH86-1 mutant.Lpa mutant lines often exhibit lower grain yield and seed viability compared with their wild-type parents. To improve the agronomic performance of the Os-lpa-MH86-1 mutant, cross-breeding with a commercial cultivar was performed. The resulting progenies were genotyped using molecular markers to identify homozygous wildtype and lpa mutants from generations F4 to F7. The objectives of this study were: (i) to observe the consistent metabolic changes in Os-lpa-MH86-1 lpa mutants by following their composition over several independent field trials; (ii) to investigate the impact of cross-breeding on the phytic acid content and the metabolic phenotype of the homozygous lpa mutant; and (iii) to assess the stability of the mutation-specific metabolite signature in the lpa progenies over several generations. Statistical assessment of the data via multivariate and univariate approaches demonstrated that the lpa trait and the mutation-induced metabolite signature in the lpa progenies were comparable to the progenitor Os-lpa-MH86-1 mutant and consistently expressed over generations. These findings extend the basis for implementing mutation breeding in the generation of lpa rice cultivars.
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Morales, Yonis, e Rolando Grajeda. "Virulence genes of new population of coffee rust (Hemileia vastatrix) affecting coffee variety 'Lempira', in Honduras; resistant and susceptible varieties." In Mutation breeding, genetic diversity and crop adaptation to climate change, 338–43. Wallingford: CABI, 2021. http://dx.doi.org/10.1079/9781789249095.0035.
Testo completoAbstract (sommario):
Abstract The coffee variety 'Lempira', released in Honduras in 1998, was classified 100% resistant to races I and II of coffee rust identified by Portugal's Centre for Research into Coffee Rusts (Centro de Investigação das Ferrugens do Cafeeiro) (CIFC) in 1997. However, since 2007, the disease has been reported in seed foundation plots and producer farms, the most recent epidemic report being in April 2016 in Vegas de Jalan, Juticalpa Olancho, affecting 210 ha. Since this variety constitutes 45% of the cultivated area under coffee in the country, there is a need to identify the virulence genes of the new strain and to determine the resistance and susceptibility of other cultivated varieties. For these purposes, mass samples of rust were inoculated on leaf discs of the differential clones 1343/269, 110/5, 147/1, 152/3, 33/1, 419/20, 832/1 and 832/2, together with 87/1, 1006/10, 420/10 and 420/2 from the Federal University of Vicosa, as well as on the two main cultivated resistant varieties ('Parainema' and 'IHCAFE- 90'), and seven promising genotypes, under controlled temperature conditions and relative humidity. After 20-60 days of inoculation, seven virulence genes were identified (v1, v2, v4, v5, v6, v7, v9), of which v1, v4, v6, v7 and v9 had not been reported in Honduras previously. It is inferred that this rust population arose by recombination of race v5 with v6, v7 or v9. Races with 3, 4, 5, 6 or 7 virulence determinants were identified as the most complex and aggressive strains described but they lacked the v3 and v8 determinants. In addition, it was found that 'Parainema', 'H27', 'T5296-170', 'Central American', 'Pacamara yellow' and 'Anacafe-14' are resistant because they possess the SH8 gene, absent from 'Lempira'. 'IHCAFE-90' and 'Obatá' showed 20% susceptibility, and 'Ruiru 11' was susceptible. The results reveal the diversity of rust virulence genes in Honduras and emphasize the importance of the SH3 and SH8 genes as sources of resistance.
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Kamh, Mahmoud, Franz Wiesler, Abdullah Ulas e Walter J. Horst. "Significance of root growth and activity for genotypic differences in nitrogen efficiency of rape (Brassica napus L.): II. Root production and nitrate-N uptake by two cultivars". In Prozessregulation in der Rhizosphäre, 32–40. Wiesbaden: Vieweg+Teubner Verlag, 2003. http://dx.doi.org/10.1007/978-3-663-07809-8_4.
Testo completo
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Osazuwa, Favour. "Sequencing of Norovirus in Southern, Nigeria: Prevalent Genotypes and Putative GII.4 Novel Recombinants among Children". In Genetic Diversity [Working Title]. IntechOpen, 2020. http://dx.doi.org/10.5772/intechopen.94389.
Testo completoAbstract (sommario):
Norovirus is now known to be the leading cause of gastroenteritis among children worldwide. This present report highlights the genetic diversity of norovirus among children less than 5 years in Southern, Nigeria. Stool specimens were collected from 300 children with diarrhea and analyzed for norovirus using conventional reverse transcriptase-Polymerase Chain Reaction. Sequencing of the capsid region was performed to genotype the strains. Norovirus was detected in 45 (11.1%) of children with diarrhea. Genogroup II norovirus was detected in 38/45 (84.4%) patients, while genogroup I (GI) noroviruses were identified in 7/38 (15.6%) patients. Genotype diversity was large, as demonstrated by the nine identified genotypes (2 GI and 7 GII). GII.4 was the most predominant genotype. Two norovirus GII.4 variants, New Orleans_2009 and Sydney_2012 were identified in this study. A putative novel GII.4 recombinant was also detected. This study report for the first time the detection of norovirus GII.17 Kawasaki strain in South–South, region of Nigeria.
Atti di convegni sul tema "Genotype II"
1
Myslyakova, Yu. "The Concept Of Territory’s Socioeconomic Genotype". In II International Conference on Economic and Social Trends for Sustainability of Modern Society. European Publisher, 2021. http://dx.doi.org/10.15405/epsbs.2021.09.02.59.
Testo completo
2
Dias, V. G., A. F. Dutra, A. R. F. Silva, W. F. Dutra, C. H. S. G. Meneses e A. S. Melo. "Antioxidant Enzymes and Proline as Indicators of Stress in Genotype Melon Irrigated Under Rates ETo". In II Inovagri International Meeting. Fortaleza, Ceará, Brasil: INOVAGRI/INCT-EI/INCTSal, 2014. http://dx.doi.org/10.12702/ii.inovagri.2014-a509.
Testo completo
3
Calalb, Tatiana, Cornelia Fursenco, Maria Gonceariuc e Violeta Butnaras. "Studiul microscopic al trihomilor glandulari și nonglandulari la genotipuri de Lavandula Angustifolia Mill. ssp. Angustifolia". In International Scientific Symposium "Plant Protection – Achievements and Prospects". Institute of Genetics, Physiology and Plant Protection, Republic of Moldova, 2020. http://dx.doi.org/10.53040/9789975347204.63.
Testo completoAbstract (sommario):
The microscopic and citochemistry study denotes 3 types of glandular trichomes (peltate, capitates type I and type II), implicated in the synthesis of the metabolites, including volatile oils (with biological and protective role) and one type of non-glandular trichomes with the potential adaptive role to stressors in 7 new genotypes (4 cultivars – Moldoveanca 4, Vis Magic 10, Alba 7, Aroma Unica and 3 hybrids – Fr.5S8-24, Fr.8-5-15V and Cr.13S-6-7) of sp. Lavandula angustifolia Mill., spp. angustifolia. The degree of development and distribution mode of both types of trichomes (glandular and non-glandular) varies according organs (stem, leaf, bract, flower calyx and corolla) and genotype.
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SILVA, SÉRGIO E. LEMOS DA, SAMANTHA CRISTINE BALDUINO, KETHLEN TAINAH XAVIER RIBEIRO, RUTHELE CAMATA MENEZES, MARIA LUíSA MAURICIO FREITAS e MARIA LUíSA NASCIUTTI MARRA. "CLINICAL AND EPIDEMIOLOGICAL ASPECTS OF BOVINE CRYPTOSPORIDIOSIS AND CONTRIBUTIONS TO HEALTH-DISEASE PROCESS IN POPULATION". In II South Florida Congress of Health. brazco, 2022. http://dx.doi.org/10.47172/iisfchv2022.0007.
Testo completoAbstract (sommario):
Cryptosporidiosis is a zoonotic disease of worldwide distribution, caused by protozoa of the Cryptosporidium genus. In cattle, the main species involved is Cryptosporidium parvum, considered to be an important agent that causes diarrhea in naturally infected neonates, which can lead to death. This article sought to investigate and describe, based on a literature search, aspects related to the epidemiological chain, pathogenesis, clinical signs, diagnosis, treatment, control, and prophylaxis of bovine cryptosporidiosis (CB), in order to improve knowledge of the health-disease process in the population. The results showed that the disease is transmitted by the oro-fecal route, through the ingestion of food and water contaminated by sporulated oocysts of the agent. The asymptomatic picture is related to infection of the abomasum by Cryptosporidium andersoni in adult animals and by Cryptosporidium bovis or cervid genotype in weaned calves. Symptomatic symptoms usually appear in calves up to 30 days of age. The morbidity and mortality of the disease are high and low, respectively, affecting mainly lactating animals. It was concluded that investigations related to CB are fundamental to establish the clinical diagnosis and control and prevention measures of the disease.
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AlMukdad, Sawsan Ibrahim, Hazem Elewa e Daoud Al-Badriyeh. "Economic Evaluation of CYP2C19 Genotype-Guided Antiplatelet Therapy Compared to Universal use of Ticagrelor or Clopidogrel in Qatar". In Qatar University Annual Research Forum & Exhibition. Qatar University Press, 2020. http://dx.doi.org/10.29117/quarfe.2020.0170.
Testo completoAbstract (sommario):
Background: Patients having CYP2C19 loss-of-function alleles and receiving clopidogrel are at higher risk of adverse cardiovascular outcomes. Ticagrelor is a more effective and expensive antiplatelet that is unaffected by the CYP2C19 polymorphism. The main aim of the current research is to evaluate the cost-effectiveness among CYP2C19 genotype-guided therapy, universal ticagrelor, and universal clopidogrel after a percutaneous coronary intervention (PCI). Methods: A two-part simulation model, including a one-year decision-analytic model and a 20-year followup Markov model, was created to follow the use of (i) universal clopidogrel, (ii) universal ticagrelor, and (iii) genotype-guided antiplatelet therapy. Outcome measures were the incremental cost-effectiveness ratio (ICER, cost/success) and incremental cost-utility ratio (ICUR, cost/qualityadjusted life years [QALY]). Therapy success was defined as survival without myocardial infarction, stroke, cardiovascular death, stent thrombosis, and no therapy discontinuation because of adverse events, i.e. major bleeding and dyspnea. The model was based on a multivariate analysis, and a sensitivity analysis confirmed the robustness of the model outcomes. Results: Against universal clopidogrel, genotype-guided therapy was cost-effective over the one-year duration (ICER, USD 6,102 /success), and dominant over the long-term. Genotype-guided therapy was dominant over universal ticagrelor over the one-year duration and cost-effective over the long term (ICUR, USD 1,383 /QALY). Universal clopidogrel was dominant over ticagrelor over the short term, and cost-effective over the long-term (ICUR, 10,616 /QALY). Conclusion: CYP2C19 genotype-guided therapy appears to be the preferred antiplatelet strategy, followed by universal clopidogrel, and then universal ticagrelor for post-PCI patients in Qatar.
6
Nakada, Taka-aki, James A. Russell, John H. Boyd, Luke McLaughlin, Emiri Nakada, Simone A. Thair, Melissa McConechy, Katherine R. Thain, Rosalia Aguirre-Hernandez e Keith R. Walley. "The GG Genotype Of Angiotensin II Type 1 Receptor-Associated Protein Gene Rs11121816 Polymorphism Is Associated With Increased Mortality In Septic Shock". In American Thoracic Society 2010 International Conference, May 14-19, 2010 • New Orleans. American Thoracic Society, 2010. http://dx.doi.org/10.1164/ajrccm-conference.2010.181.1_meetingabstracts.a1021.
Testo completo
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Türkmen, Musa, Durmuş Alpaslan Kaya e Filiz Ayanoğlu. "Variations in Essential Oil Main Components of Native Grown Salvia aramiensis Rech. fil. Genotypes Depending on Years". In The 9th International Conference on Advanced Materials and Systems. INCDTP - Leather and Footwear Research Institute (ICPI), Bucharest, Romania, 2022. http://dx.doi.org/10.24264/icams-2022.ii.27.
Testo completoAbstract (sommario):
The essential oils and components of sage, which is mostly consumed as a tea and spice plant, have different uses in the field of medicine and cosmetics. The high camphor and thujone contained in many sage species limit the use of the plant as tea and spice in the food sector due to its toxic and carcinogenic effects. In such cases, which directly concern human health, new species and varieties containing low camphor and thujone should be introduced to the market, and the consumer should be provided with safe food. Studies in the Salvia aramiensis species revealed that the camphor rate in this plant is very low and there is no thujone. Antakya sage (Salvia aramiensis Rech. fil.,), which is only found in the flora of Hatay in Türkiye, is important for the herbal tea market due to its chemical content. For this reason, this study was carried out in seventy-nine genotypes growing naturally in different locations for two consecutive years, in order to reveal the variation of essential oil compositions of S. aramiensis genotypes. In general terms, it was determined that the ratio of essential oil components of genotypes did not change much over the years. In the study, first- and second-year cineole averages of the genotypes were found as 44.40% and 45.69%, camphor averages 12.74% and 12.58%, β-pinene averages 4.70% and 5.07%, borneol averages 6.53% and 6.22%, respectively.
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Fageria, N. K., H. R. Gheyi e M. C. S. Carvalho. "Yield, Potassium Uptake and Use Efficiency in Upland Rice Genotypes". In II Inovagri International Meeting. Fortaleza, Ceará, Brasil: INOVAGRI/INCT-EI/INCTSal, 2014. http://dx.doi.org/10.12702/ii.inovagri.2014-a607.
Testo completo
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Medeiros, M. J. L., M. M. A. Silva, M. M. C. Granja, G. S. Silva-Junior, T. R. Camara e L. Willadino. "Action of Exogenous Proline in Sugarcane Genotypes Grown in vitro under Salt Stress". In II Inovagri International Meeting. Fortaleza, Ceará, Brasil: INOVAGRI/INCT-EI/INCTSal, 2014. http://dx.doi.org/10.12702/ii.inovagri.2014-a464.
Testo completo
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Eugenia Araujo Silva Oliveira, Maria, Priscila Zaczuk Bassinello, José Manoel Colombari Filho, Carlos Wanderlei Piler de Carvalho e Cristina Yoshie Takeiti. "EFFECTS OF GERMINATION AND DEBRANNING ON AMINO ACID PROFILE OF DIFFERENT RICE GENOTYPES". In II CBCP - Congresso Brasileiro de Tecnologia de Cereais e Panificação. ,: Even3, 2022. http://dx.doi.org/10.29327/cbcp2022.515334.
Testo completoRapporti di organizzazioni sul tema "Genotype II"
1
Fridman, Eyal, Jianming Yu e Rivka Elbaum. Combining diversity within Sorghum bicolor for genomic and fine mapping of intra-allelic interactions underlying heterosis. United States Department of Agriculture, gennaio 2012. http://dx.doi.org/10.32747/2012.7597925.bard.
Testo completoAbstract (sommario):
Heterosis, the enigmatic phenomenon in which whole genome heterozygous hybrids demonstrate superior fitness compared to their homozygous parents, is the main cornerstone of modern crop plant breeding. One explanation for this non-additive inheritance of hybrids is interaction of alleles within the same locus. This proposal aims at screening, identifying and investigating heterosis trait loci (HTL) for different yield traits by implementing a novel integrated mapping approach in Sorghum bicolor as a model for other crop plants. Originally, the general goal of this research was to perform a genetic dissection of heterosis in a diallel built from a set of Sorghum bicolor inbred lines. This was conducted by implementing a novel computational algorithm which aims at associating between specific heterozygosity found among hybrids with heterotic variation for different agronomic traits. The initial goals of the research are: (i) Perform genotype by sequencing (GBS) of the founder lines (ii) To evaluate the heterotic variation found in the diallel by performing field trails and measurements in the field (iii) To perform QTL analysis for identifying heterotic trait loci (HTL) (iv) to validate candidate HTL by testing the quantitative mode of inheritance in F2 populations, and (v) To identify candidate HTL in NAM founder lines and fine map these loci by test-cross selected RIL derived from these founders. The genetic mapping was initially achieved with app. 100 SSR markers, and later the founder lines were genotyped by sequencing. In addition to the original proposed research we have added two additional populations that were utilized to further develop the HTL mapping approach; (1) A diallel of budding yeast (Saccharomyces cerevisiae) that was tested for heterosis of doubling time, and (2) a recombinant inbred line population of Sorghum bicolor that allowed testing in the field and in more depth the contribution of heterosis to plant height, as well as to achieve novel simulation for predicting dominant and additive effects in tightly linked loci on pseudooverdominance. There are several conclusions relevant to crop plants in general and to sorghum breeding and biology in particular: (i) heterosis for reproductive (1), vegetative (2) and metabolic phenotypes is predominantly achieved via dominance complementation. (ii) most loci that seems to be inherited as overdominant are in fact achieving superior phenotype of the heterozygous due to linkage in repulsion, namely by pseudooverdominant mechanism. Our computer simulations show that such repulsion linkage could influence QTL detection and estimation of effect in segregating populations. (iii) A new height QTL (qHT7.1) was identified near the genomic region harboring the known auxin transporter Dw3 in sorghum, and its genetic dissection in RIL population demonstrated that it affects both the upper and lower parts of the plant, whereas Dw3 affects only the part below the flag leaf. (iv) HTL mapping for grain nitrogen content in sorghum grains has identified several candidate genes that regulate this trait, including several putative nitrate transporters and a transcription factor belonging to the no-apical meristem (NAC)-like large gene family. This activity was combined with another BARD-funded project in which several de-novo mutants in this gene were identified for functional analysis.
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Gootwine, Elisha, David Thomas, Ruth Braw-Tal, Amir Bor e P. J. Dziuk. Improvement of Prolificacy of Israeli and U.S. Sheep Breeds through Inclusion of the F Gene of the Booroola Merino-Stage II. United States Department of Agriculture, maggio 1995. http://dx.doi.org/10.32747/1995.7604931.bard.
Testo completoAbstract (sommario):
The purposes of this project were: 1) to introduce the FecB gene to the Awassi and Assaf breeds in Israel and the Rambouillet breed in the U.S.A. aiming in the long run to establish Awassi, Assaf and Rambouillet nucclei breeding flocks homozygous for the F gene in which the contribution of the Booroola Merino genetic background will be less than 10%; (In the U.S., Booroola crosses with Suffolk and Targhee were also studied. 2) to evaluate the effect of the FecB gene and different proportions of Booroola Merino genetic background on lamb survival, growth, milk production and wool production in Booroola crosses with the native breeds; 3) to reveal the specific effect of the FecB gene on ovarian development, follicle stimulating hormone (FSH) and inhibin secretion in prepubertal ewe lambs and in adult ewes in order to define physiological criteria for distinguishing carriers of the FecB allele from non-carriers and 4) to identify genetic markers linked to the FecB gene to assist in selection of genotypes within the Booroola crosses. Introgression of the Booroola gene reached the stage of the third backcross in the Awassi, Assaf and the Rambouillet crosses. In all cases the Booroola crosses were superior in prolificacy. However, they were inferior in comparison to the local breeds in production due to Booroola Merino genes other than the FecB. It is expected that the beneficial economic contribution of the Booroola gene will increase along with the upgrading to the local breeds. FSH plasma levels and induced ovulation rate of 5 month old FecB carriers among the crossbreeds. The OarAE101 marker can assist in detecting FecB carriers among Booroola-Awassi crosses. However, this marker is informative only in some of the families.
3
Zhao, Bingyu, Saul Burdman, Ronald Walcott e Gregory E. Welbaum. Control of Bacterial Fruit Blotch of Cucurbits Using the Maize Non-Host Disease Resistance Gene Rxo1. United States Department of Agriculture, settembre 2013. http://dx.doi.org/10.32747/2013.7699843.bard.
Testo completoAbstract (sommario):
The specific objectives of this BARD proposal were: (1) To determine whether Rxol can recognize AacavrRxo1 to trigger BFB disease resistance in stable transgenic watermelon plants. (2) To determine the distribution of Aac-avrRxo1 in a global population of Aae and to characterize the biological function of Aac-avrRxo1. (3) To characterize other TIS effectors of Aae and to identify plant R gene(s) that can recognize conserved TIS effectors of this pathogen. Background to the topic: Bacterial fruit blotch (BFB) of cucurbits, caused by Acidovorax avenae subsp. citrulli (Aae), is a devastating disease that affects watermelon (Citrullus lanatus) and melon (Cucumis melo) production worldwide, including both Israel and USA. Two major groups of Aae strains have been classified based on their virulence on host plants, genetics and biochemical properties. Thus far, no effective resistance genes have been identified from cucurbit germplasm. In this project, we assessed the applicability of a non-host disease resistance gene, Rxol, to control BFB in watermelon. We also tried to identify Aae type III secreted (TIS) effectors that can be used as molecular probes to identify novel disease resistance genes in both cucurbits and Nieotianatabaeum. Major conclusions, solutions, achievements: We generated five independent transgenic watermelon (cv. Sugar Babay) plants expressing the Rxol gene. The transgenic plants were evaluated with Aae strains AAC001 and M6 under growth chamber conditions. All transgenic plants were found to be susceptible to both Aae strains. It is possible that watermelon is missing other signaling components that are required for Rxol-mediated disease resistance. In order to screen for novel BFB resistance genes, we inoculated two Aae strains on 60 Nieotiana species. Our disease assay revealed Nicotiana tabaeum is completely resistant to Aae, while its wild relative N. benthamiana is susceptible to Aae. We further demonstrated that Nieotiana benthamiana can be used as a surrogate host for studying the mechanisms of pathogenesis of Aae. We cloned 11 TIS effector genes including the avrRxolhomologues from the genomes of 22 Aae strains collected worldwide. Sequencing analysis revealed that functional avrRxol is conserved in group" but not group I Aae strains. Three effector genes- Aave_1548, Aave_2166 and Aave_2708- possessed the ability to trigger an HR response in N. tabacum when they were transiently expressed by Agrobaeterium. We conclude that N. tabacum carries at least three different non-host resistance genes that can specifically recognize AaeTIS effectors to trigger non-host resistance. Screening 522 cucurbits genotypes with two Aae strains led us to identify two germplasm (P1536473 and P1273650) that are partially resistant to Aae. Interestingly, transient expression of the TIS effector, Aave_1548, in the two germplasms also triggered HR-Iike cell death, which suggests the two lines may carry disease resistance genes that can recognize Aave_1548. Importantly, we also demonstrated that this effector contributes to the virulence of the bacterium in susceptible plants. Therefore, R genes that recognize effector Aave1548 have great potential for breeding for BFB resistance. To better understand the genome diversity of Aae strains, we generated a draft genome sequence of the Israeli Aae strain, M6 (Group I) using Iliumina technology. Comparative analysis of whole genomes of AAC001, and M6 allowed us to identify several effectors genes that differentiate groups I and II. Implications, both scientific and agricultural: The diversity of TIS effectors in group I and II strains of Aae suggests that a subset of effectors could contribute to the host range of group I and II Aae strains. Analysis of these key effectors in a larger Aae population may allow us to predict which cucurbit hosts may be at risk to BFB. Additionally, isolation of tobacco and cucurbit Rgenes that can recognize Aae type III effectors may offer new genetic resources for controlling BFB.
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Joel, Daniel M., Steven J. Knapp e Yaakov Tadmor. Genomic Approaches for Understanding Virulence and Resistance in the Sunflower-Orobanche Host-Parasite Interaction. United States Department of Agriculture, agosto 2011. http://dx.doi.org/10.32747/2011.7592655.bard.
Testo completoAbstract (sommario):
Oroginal Objectives: (i) identify DNA markers linked to the avirulence (Avr) locus and locate the Avr locus through genetic mapping with an inter-race Orobanche cumana population; (ii) develop high-throughput fingerprint DNA markers for genotypingO. cumana races; (iii) identify nucleotide binding domain leucine rich repeat (NB-LRR) genes encoding R proteins conferring resistance to O. cumana in sunflower; (iv) increase the resolution of the chromosomal segment harboring Or₅ and related R genes through genetic and physical mapping in previously and newly developed mapping populations of sunflower; and (v) develop high-throughput DNA markers for rapidly and efficiently identifying and transferring sunflower R genes through marker-assisted selection. Revisions made during the course of project: Following changes in O. cumana race distribution in Israel, the newly arrived virulent race H was chosen for further analysis. HA412-HO, which was primarily chosen as a susceptible sunflower cultivar, was more resistant to the new parasite populations than var. Shemesh, thus we shifted sunflower research into analyzing the resistance of HA412-HO. We exceeded the deliverables for Objectives #3-5 by securing funding for complete physical and high-density genetic mapping of the sunflower genome, in addition to producing a complete draft sequence of the sunflower genome. We discovered limited diversity between the parents of the O. cumana population developed for the mapping study. Hence, the developed DNA marker resources were insufficient to support genetic map construction. This objective was beyond the scale and scope of the funding. This objective is challenging enough to be the entire focus of follow up studies. Background to the topic: O. cumana, an obligate parasitic weed, is one of the most economically important and damaging diseases of sunflower, causes significant yield losses in susceptible genotypes, and threatens production in Israel and many other countries. Breeding for resistance has been crucial for protecting sunflower from O. cumana, and problematic because new races of the pathogen continually emerge, necessitating discovery and deployment of new R genes. The process is challenging because of the uncertainty in identifying races in a genetically diverse parasite. Major conclusions, solutions, achievements: We developed a small collection of SSR markers for genetic mapping in O. cumana and completed a diversity study to lay the ground for objective #1. Because DNA sequencing and SNPgenotyping technology dramatically advanced during the course of the study, we recommend shifting future work to SNP discovery and mapping using array-based approaches, instead of SSR markers. We completed a pilot study using a 96-SNP array, but it was not large enough to support genetic mapping in O.cumana. The development of further SNPs was beyond the scope of the grant. However, the collection of SSR markers was ideal for genetic diversity analysis, which indicated that O. cumanapopulations in Israel considerably differ frompopulations in other Mediterranean countries. We supplied physical and genetic mapping resources for identifying R-genes in sunflower responsible for resistance to O. cumana. Several thousand mapped SNP markers and a complete draft of the sunflower genome sequence are powerful tools for identifying additional candidate genes and understanding the genomic architecture of O. cumana-resistanceanddisease-resistance genes. Implications: The OrobancheSSR markers have utility in sunflower breeding and genetics programs, as well as a tool for understanding the heterogeneity of races in the field and for geographically mapping of pathotypes.The segregating populations of both Orobanche and sunflower hybrids are now available for QTL analyses.