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复杂的适应景观塑造了超多态物种的变异。

Complex fitness landscape shapes variation in a hyperpolymorphic species.

机构信息

Skolkovo Institute of Science and Technology, Moscow, Russian Federation.

White Sea Biological Station, Biological Faculty, Lomonosov Moscow State University, Moscow, Russian Federation.

出版信息

Elife. 2022 May 9;11:e76073. doi: 10.7554/eLife.76073.

Abstract

It is natural to assume that patterns of genetic variation in hyperpolymorphic species can reveal large-scale properties of the fitness landscape that are hard to detect by studying species with ordinary levels of genetic variation. Here, we study such patterns in a fungus , the most polymorphic species known. Throughout the genome, short-range linkage disequilibrium (LD) caused by attraction of minor alleles is higher between pairs of nonsynonymous than of synonymous variants. This effect is especially pronounced for pairs of sites that are located within the same gene, especially if a large fraction of the gene is covered by haploblocks, genome segments where the gene pool consists of two highly divergent haplotypes, which is a signature of balancing selection. Haploblocks are usually shorter than 1000 nucleotides, and collectively cover about 10% of the genome. LD tends to be substantially higher for pairs of nonsynonymous variants encoding amino acids that interact within the protein. There is a substantial correlation between LDs at the same pairs of nonsynonymous mutations in the USA and the Russian populations. These patterns indicate that selection in involves positive epistasis due to compensatory interactions between nonsynonymous alleles. When less polymorphic species are studied, analogous patterns can be detected only through interspecific comparisons.

摘要

人们自然会认为,在高度多态性物种中的遗传变异模式可以揭示出通过研究遗传变异水平普通的物种难以发现的适应性景观的大规模特征。在这里,我们研究了一种真菌中的这种模式,这是已知的最具多态性的物种。在整个基因组中,由少数等位基因吸引引起的短程连锁不平衡(LD)在非同义变体对之间比同义变体对之间更高。这种效应在位于同一基因内的位点对中尤为明显,如果基因的很大一部分被单倍型块覆盖,那么基因库由两个高度分化的单倍型组成,这是平衡选择的特征。单倍型块通常短于 1000 个核苷酸,总共覆盖基因组的约 10%。对于编码在蛋白质内相互作用的氨基酸的非同义变体对,LD 往往要高得多。美国和俄罗斯种群中相同非同义突变对的 LD 之间存在很大的相关性。这些模式表明,选择涉及到由于非同义等位基因之间的补偿相互作用而产生的正上位性。当研究遗传变异水平较低的物种时,只有通过种间比较才能检测到类似的模式。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ae99/9187340/43d20a9ad858/elife-76073-fig1.jpg

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