[Advances in the research of genetic variation of schistosomes].
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Animals↗
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Results for “Genetic Variation”
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Genetic variation in the fibrinogen gene cluster.
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Cardiovascular Diseases↗
Genetic variation for total fitness in Drosophila melanogaster.
We measured the heterozygous effects on net fitness of a sample of 12 wild-type third chromosomes in D. melanogaster. Effects on fitness were assessed by competing the wild-type chromosomes against balancer chromosomes, to prevent the production of recombinants. The measurements were carried out in the population cage environment in which the life history had been evolving, in an undisturbed population with overlapping generations, and replicated measurements were made on each chromosome to control for confounding effects such as mutation accumulation. We found significant variation among the wild type chromosomes in their additive genetic effect on net fitness. The system provides an opportunity to obtain an accurate estimate of the distribution of heterozygous effects on net fitness, the contribution of different fitness components including male mating success, and the role of intra-chromosomal epistasis in fitness variation.
Animals↗
Geographic pattern of genetic variation in Pinus resinosa: area of greatest diversity is not the origin of postglacial populations.
Genetic diversity is low in natural populations of red pine, Pinus resinosa, a species that has a vast range across north-eastern North America. In this study, we examined 10 chloroplast microsatellite or simple sequence repeats (cpSSR) loci in 136 individuals from 10 widespread populations. Substantial variation for the cpSSR loci was observed in the study populations. The contrast with red pine's lack of variation for other types of loci is likely to be due to the higher mutation rates typical of SSR loci. The amount of variation is lower than that generally found for cpSSR loci in other pine species. In addition, the variation exhibits a striking geographical pattern. Most of the genetic diversity is among populations, with little within populations, indicating substantial isolation of and genetic drift within many populations in the southern half of the species distribution. The greatest diversity now occurs in the north-eastern part of New England, which is especially intriguing because this entire area was glaciated. Thus the centre of diversity cannot be the origin of postglacial populations, rather it is likely caused by admixture, most probably because of influences from two separate refugia. Furthermore, the pattern indicates that the spread of red pine since the last glaciation is rather more complex than usually described, and it likely includes more than one refugia, complex migration routes, and postglacial-retreat isolation and genetic drift among shrinking populations in regions of the present southern range.
Chloroplasts↗
Genetic variation and relationships at six VNTR loci in two distinct sample populations in Brazil.
BACKGROUND: The Brazilian population has been the focus of intensive genetic study due to admixture characteristics whereas there are few reports on the variability of VNTR loci in Brazil. PRIMARY OBJECTIVE: The aim of this study was to analyse genetic parameters in sample populations from two geographically distant regions: São Luis City, in Maranhão State and Campinas City, in São Paulo State. We investigated if distinct colonization influences could produce detectable differences in genetic background. SUBJECT AND METHODS: DNA samples from peripheral drained blood were obtained from unrelated individuals who underwent paternity testing. Allelic variation in six VNTR loci (D2S44, D4S139, D5S110, D8S358, DI0S28 and D17S79) was evaluated. The results were compared to reference databases available for general Latin-derived European and African-American populations as well as for other Brazilian groups. RESULTS: This study reveals that forensic population parameters did not show differences among regions, although we detected admixture values varying between the south-east and north-east of Brazil. CONCLUSIONS: Differences between the two samples are probably due to different admixture proportions of European- and African-derived alleles in each region: both populations are in Hardy Weinberg equilibrium. In addition, the allelic frequency for all loci, in both populations, can be used as database for forensic purposes.
Alleles↗
Genetic variation and population structure in Scandinavian wolverine (Gulo gulo) populations.
Wolverine (Gulo gulo) numbers in Scandinavia were significantly reduced during the early part of the century as a result of predator removal programmes and hunting. Protective legislation in both Sweden and Norway in the 1960s and 1970s has now resulted in increased wolverine densities in Scandinavia. We report here the development of 15 polymorphic microsatellite markers in wolverine and their use to examine the population sub-structure and genetic variability in free-ranging Scandinavian wolverine populations as well as in a sample of individuals collected before 1970. Significant subdivision between extant populations was discovered, in particular for the small and isolated population of southern Norway, which represents a recent recolonization. Overall genetic variability was found to be lower than previously reported for other mustelids, with only two to five alleles per locus and observed heterozygosities (H(O)) ranging from 0.269 to 0.376 across the examined populations, being lowest in southern Norway. Analysis of the mitochondrial DNA control region revealed no variation throughout the surveyed populations. As the historical sample did not show higher levels of genetic variability, our results are consistent with a reduction in the genetic variation in Scandinavian wolverines that pre-dates the demographic bottleneck observed during the last century. The observed subdivision between populations calls for management caution when issuing harvest quotas, especially for the geographically isolated south Norwegian population.
Animals↗
The genetic variation and covariation among fitness components in Drosophila melanogaster females and males.
The results presented in this study indicate low to moderate level of heritable variation for the following fitness components in Drosophila melanogaster sampled from natural population: early and late fecundity of females, virility of males and longevity of females and males. The most striking exception from this are high additive genetic variances for preadult developmental duration in both sexes. Females exhibit significant negative genetic correlations between early and late components of fitness. In contrast to females, we did not observe any measurable correlations between components of fitness in males. Our data suggest that genetic covariance structure between fitness components differs by sex. We also observed significant negative correlations between virility of males and late components of female life history.
Animals↗
Genetic variation at the tomato Cf-4/Cf-9 locus induced by EMS mutagenesis and intralocus recombination.
The interaction between tomato (Lycopersicon esculentum) and the leaf mold pathogen Cladosporium fulvum is an excellent model for investigating disease resistance gene evolution. The interaction is controlled in a gene-for-gene manner by Cf genes that encode type I transmembrane extracellular leucine-rich repeat glycoproteins that recognize their cognate fungal avirulence (Avr) proteins. Cf-4 from L. hirsutum and Cf-9 from L. pimpinellifolium are located at the same locus on the short arm of tomato chromosome 1 in an array of five paralogs. Molecular analysis has shown that one mechanism for generating sequence variation in Cf genes is intragenic sequence exchange through unequal crossing over or gene conversion. To investigate this we used a facile genetic selection to identify novel haplotypes in the progeny of Cf-4/Cf-9 trans-heterozygotes that lacked Cf-4 and Cf-9. This selection is based on the ability of Avr4 and Avr9 to induce Cf-4- or Cf-9-dependent seedling death. The crossovers were localized to the same intergenic region defining a recombination hotspot in this cross. As part of a structure-function analysis of Cf-9 and Cf-4, nine EMS-induced mutant alleles have been characterized. Most mutations result in single-amino-acid substitutions in their C terminus at residues that are conserved in other Cf proteins.
Alleles↗
Genetic variation in brain L-glutamate decarboxylase activity from two inbred strains of mice.
Two inbred strains of mice, C57BL/6Bg and DBA/1Bg, were compared for genetic varaition in brain L-glutamate decarboxylase (GAD) activity. Although no large difference was found between the strains in whole brain GAD activity at adult age (27--45 days postnatally), regional examination revealed a difference in GAD activity in the cerebral cortex (15% higher in DBA); subcellular examination revealed a difference in synaptosomal fraction (21% higher in DBA). When GAD activity was measured in synaptosomal fractions prepared from dissected cerebral cortex, DBA was 34% higher than C57BL. In addition, differences in GAD activity between the two strains could be observed even in the whole brain (10--15% higher in DBA) during earlier development (15--23 days postnatally). These data indicate that at adult age, genetic difference in GAD activity between the two strains exists mainly in nerve terminals of the cerebral cortex. It is postulated that the difference may be due to a genetically mediated mechanism regulating GAD in the presynaptic terminals of GABA neurons of the cerebral cortex.
Age Factors↗
Genetic variation analysis within and among six varieties of common carp (Cyprinus carpio L.) in China using microsatellite markers.
Five microsatellites were used to study the genetic diversity and genetic structure of one wild and five domestic varieties of common carp in China (the Yangtze River wild common carp, Xingguo red carp, purse red carp, Qingtian carp, Russian scattered scaled mirror carp and Japanese decorative carp). All loci in this study showed marked polymorphism with the number of alleles from 4 to 13. Domestic varieties (except Xingguo red carp) showed less genetic diversity than the Yangtze River wild common carp in terms of allelic diversity. Population differentiation was assessed and each combination of populations displayed significant differentiation (p < 0.05) with the exception of that between the Yangtze River wild common carp and Xingguo red carp. Genetic distance analysis (Nei's standard genetic distance and pairwise F(st) distance) showed that the largest distance was between Russian scattered scaled mirror carp and the Yangtze River wild common carp and the smallest distance was between the Yangtze River wild common carp and Xingguo red carp. However, among six populations Japanese decorative carp displayed the highest level of variability in terms of heterozygosity.
Animals↗
Genetic variation in histidine ammonia-lyase activity in the mouse.
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Ammonia-Lyases↗
Evidence for genetic variation in the occurrence of the photoresponse of the Djungarian hamster, Phodopus sungorus.
The Djungarian hamster generally responds to a short-day photoperiod with a complex syndrome of physiological and behavioral changes; however, not all hamsters are photoresponsive. The phenotypic difference is, in part, genetically determined. Parent-offspring regression on a number of continuous and discontinuous measures indicated significant heritability for photoresponsiveness. Four generations of replicated bidirectional selection on a photoresponse index (PI) resulted in significant shifts in the percentage of responsive hamsters, although the average PI of responsive individuals was not significantly changed. Eight estimates of heritability ranged from 0.20 to 0.52. We hypothesize that the circadian system is responsible for the occurrence of the photoresponse, but that the extent of photoresponse is controlled by a separate functional system.
Animals↗
Biological variations, genetic polymorphisms and familial resemblance of TNF-alpha and IL-6 concentrations: STANISLAS cohort.
Cytokines are involved in the development of several inflammatory diseases and atherosclerosis. Their variations in healthy individuals are not well defined. The aims of this study were: firstly, to identify factors affecting biological variation of interleukin-6 (IL-6) and tumour necrosis factor-alpha (TNF-alpha); secondly, to study their family resemblance; and thirdly, to evaluate the effect of two TNF-alpha (-308G/A and -238G/A) and two IL-6 polymorphisms (174G/C and -572G/C) on their corresponding circulating levels. A total of 171 healthy families selected from the STANISLAS cohort were studied. Age was negatively related to TNF-alpha concentrations in offspring only (both sons and daughters). Additionally, IL-6 and TNF-alpha levels were differently influenced by gender, white blood cells, tobacco consumption, and HDL-cholesterol level. A weak significant familial resemblance for TNF-alpha concentration was observed in siblings only. There was no significant familial resemblance for IL-6 levels. The TNF-alpha -308A allele was associated with decreased TNF-alpha concentrations in both offspring aged less than 18 and males without overweight (BMI<25 kg/m(2)). Fathers carrying the IL-6 -174CC genotype had higher IL-6 levels than those with the IL-6 -174G allele. Parents with the IL-6 -572GG genotype had higher IL-6 concentrations than the C allele carriers. In this sample of healthy families, plasma levels of IL-6 and TNF-alpha were differently affected by biological parameters including age, gender and smoking, and the impact of their respective polymorphisms was influenced by gender, age and BMI.
Adolescent↗
Whole-exome characterization of host genetic variation in HIV-associated genes across the high-prevalence Mizo population, Northeast India.
BACKGROUND: The Mizoram state of Northeast India has one of the highest HIV prevalence rates in Asia, yet the host genetic factors influencing HIV susceptibility in this Tibeto-Burman population remain uncharacterised. METHODS: We performed whole-exome sequencing using Illumina NovaSeq 6000, mean coverage 100X on 76 HIV-negative Mizo individuals. Variants were called using GATK HaplotypeCaller v4.3 against GRCh38p14, annotated with ANNOVAR, and filtered using hard-quality thresholds (QD ≥ 2, SOR ≤ 3, MQ ≥ 40, DP ≥ 10, GQ ≥ 20). The allele frequencies were compared against gnomAD v2.1.1 population databases. Hardy-Weinberg equilibrium was assessed using the Wigginton exact test with Bonferroni correction. RESULTS: Post-quality filtering resulted in 12,011 sample-variants across 2,821 unique positions from 36 HIV-associated loci (33 protein-coding genes, 2 chemokine ligands, and 3 lncRNA targets). Of these, 784 observations (51 unique positions) were high-impact nonsynonymous or loss-of-function variants. ADAR rs2229857 (p.K384R, NM_015840) was the most frequently observed variant (Mizo carrier frequency = 0.895; 95% CI: 0.806-0.946). CXCR1 rs16858808 (p.R335C) showed the greatest population enrichment (Mizo carrier frequency = 0.197; 95% CI: 0.123-0.300; 7.65-fold carrier-frequency enrichment versus gnomAD South Asian; CADD = 15.60). Sixteen of 20 tested variants deviated from Hardy-Weinberg equilibrium after Bonferroni correction (p < 0.0025), predominantly showing excess homozygosity consistent with the endogamous Mizo population. The protective variant CCR5-Δ32 was absent in all the 76 individuals tested. CONCLUSION: This first whole-exome characterization of HIV host genes in the Mizo population identifies CXCR1 rs16858808 as the most population-enriched functional variant and reveals a pervasive endogamy signature. These findings provide a population-specific genetic framework for future HIV susceptibility studies and ART pharmacogenomics research.
Humans↗
Genetic variation and the control of transcription.
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Animals↗
Retrotransposon-based S-SAP as a platform for the analysis of genetic variation and linkage in globe artichoke.
A high copy number of retrotransposon sequences are present and widely dispersed in plant genomes. Their activity generates a considerable degree of sequence polymorphism. Here, we report the cloning of CYRE-5, a long-terminal repeat carrying retrotransposon-like sequence in Cynara cardunculus L., and its exploitation to develop a DNA fingerprinting assay across 22 accessions, including both cultivated (globe artichoke and cultivated cardoon) and wild (wild cardoon) types. The effectiveness of the sequence-specific amplified polymorphism (S-SAP) platform is compared with that of amplified fragment length polymorphism (AFLP). A genetic linkage analysis, based on a hybrid population between 2 globe artichoke varietal types, resulted in the inclusion of 29 S-SAP loci in the core genetic map, confirming their dispersed distribution across the globe artichoke genome.
Cynara scolymus↗
Genetic variation of soluble glutamic-oxaloacetic transaminase in man.
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Asian People↗
Implications of genetic variation on the pathogenesis of hepatitis B virus infection.
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Genetic Variation↗