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Genetic Variation and De Novo Mutations in the Parthenogenetic Caucasian Rock Lizard Darevskia unisexualis

机译:单性生殖高加索岩石蜥蜴Darevskia unisexualis的遗传变异和从头突变

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摘要

Unisexual all-female lizards of the genus Darevskia that are well adapted to various habitats are known to reproduce normally by true parthenogenesis. Although they consist of unisexual lineages and lack effective genetic recombination, they are characterized by some level of genetic polymorphism. To reveal the mutational contribution to overall genetic variability, the most straightforward and conclusive way is the direct detection of mutation events in pedigree genotyping. Earlier we selected from genomic library of D. unisexualis two polymorphic microsatellite containg loci Du281 and Du215. In this study, these two loci were analyzed to detect possible de novo mutations in 168 parthenogenetic offspring of 49 D. unisexualis mothers and in 147 offspring of 50 D. armeniaca mothers . No mutant alleles were detected in D. armeniaca offspring at both loci, and in D. unisexualis offspring at the Du215 locus. There were a total of seven mutational events in the germ lines of four of the 49 D. unisexualis mothers at the Du281 locus, yielding the mutation rate of 0.1428 events per germ line tissue. Sequencing of the mutant alleles has shown that most mutations occur via deletion or insertion of single microsatellite repeat being identical in all offspring of the family. This indicates that such mutations emerge at the early stages of embryogenesis. In this study we characterized single highly unstable (GATA)n containing locus in parthenogenetic lizard species D. unisexualis. Besides, we characterized various types of mutant alleles of this locus found in the D. unisexualis offspring of the first generation. Our data has shown that microsatellite mutations at highly unstable loci can make a significant contribution to population variability of parthenogenetic lizards.
机译:Darevskia属的两性全雌蜥蜴非常适合各种生境,已知它们可以通过真正的孤雌生殖正常繁殖。尽管它们由单性谱系组成并且缺乏有效的基因重组,但它们的特征是某种程度的遗传多态性。为了揭示突变对整体遗传变异性的贡献,最直接,最明确的方法是直接检测谱系基因分型中的突变事件。早些时候,我们从D. unisexualis的基因组库中选择了两个多态性微卫星,分别包含位点Du281和Du215。在这项研究中,对这两个基因座进行了分析,以检测49位单性双歧杆菌母亲的168个孤雌生殖后代和50个环纹杜鹃母亲的147个后代的可能的从头突变。在两个位点的亚美尼亚D. armeniaca后代和Du215位点的中性D. unisexualis后代中均未检测到突变等位基因。在Du281基因座的49个单性双歧杆菌母亲中,有四个在生殖系中共有七个突变事件,每个生殖系组织的突变率为0.1428个事件。突变等位基因的测序表明,大多数突变是通过删除或插入在该家族所有后代中相同的单个微卫星重复序列而发生的。这表明这种突变在胚胎发生的早期出现。在这项研究中,我们表征了孤雌蜥蜴D. unisexualis中含有单个高度不稳定(GATA)n的基因座。此外,我们表征了在第一代D. unisexualis后代中发现的该基因座的各种突变型等位基因。我们的数据表明,高度不稳定位点的微卫星突变可以对孤雌生殖蜥蜴的种群变异性做出重大贡献。

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