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对时间分层样本进行全基因组重测序揭示了高度近亲交配的斯堪的纳维亚狼群中存在大量单倍型多样性的丧失。

Whole-genome resequencing of temporally stratified samples reveals substantial loss of haplotype diversity in the highly inbred Scandinavian wolf population.

机构信息

Department of Evolutionary Biology, Uppsala University, SE-752 36 Uppsala, Sweden.

Norwegian Institute for Nature Research (NINA), Torgard, NO-7485, Trondheim, Norway.

出版信息

Genome Res. 2022 Mar;32(3):449-458. doi: 10.1101/gr.276070.121. Epub 2022 Feb 8.

Abstract

Genetic drift can dramatically change allele frequencies in small populations and lead to reduced levels of genetic diversity, including loss of segregating variants. However, there is a shortage of quantitative studies of how genetic diversity changes over time in natural populations, especially on genome-wide scales. Here, we analyzed whole-genome sequences from 76 wolves of a highly inbred Scandinavian population, founded by only one female and two males, sampled over a period of 30 yr. We obtained chromosome-level haplotypes of all three founders and found that 10%-24% of their diploid genomes had become lost after about 20 yr of inbreeding (which approximately corresponds to five generations). Lost haplotypes spanned large genomic regions, as expected from the amount of recombination during this limited time period. Altogether, 160,000 SNP alleles became lost from the population, which may include adaptive variants as well as wild-type alleles masking recessively deleterious alleles. Although not sampled, we could indirectly infer that the two male founders had megabase-sized runs of homozygosity and that all three founders showed significant haplotype sharing, meaning that there were on average only 4.2 unique haplotypes in the six copies of each autosome that the founders brought into the population. This violates the assumption of unrelated founder haplotypes often made in conservation and management of endangered species. Our study provides a novel view of how whole-genome resequencing of temporally stratified samples can be used to visualize and directly quantify the consequences of genetic drift in a small inbred population.

摘要

遗传漂变可显著改变小种群中的等位基因频率,并导致遗传多样性降低,包括分离变异的丧失。然而,对于自然种群中遗传多样性随时间如何变化的定量研究很少,特别是在全基因组范围内。在这里,我们分析了来自一个高度近交的斯堪的纳维亚种群的 76 只狼的全基因组序列,该种群由仅一只雌性和两只雄性建立,在 30 年的时间内进行了采样。我们获得了所有三个奠基者的染色体水平的单倍型,并发现它们的二倍体基因组中有 10%-24%在大约 20 年的近交(约相当于五代)后丢失。丢失的单倍型跨越了大片基因组区域,这与这段有限时间内的重组量相符。总体而言,该种群有 16 万个 SNP 等位基因丢失,其中可能包括适应性变体以及掩盖隐性有害等位基因的野生型等位基因。尽管没有采样,但我们可以间接推断出这两只雄性奠基者存在兆碱基大小的纯合性区域,并且所有三个奠基者都表现出显著的单倍型共享,这意味着在奠基者带入种群的每个常染色体的六个副本中,平均只有 4.2 个独特的单倍型。这违反了在濒危物种保护和管理中经常做出的无关奠基者单倍型的假设。我们的研究提供了一个新的视角,即如何使用时间分层样本的全基因组重测序来可视化和直接量化小近交种群中遗传漂变的后果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ad58/8896455/571f51b4f916/449f01.jpg

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