Centre for Integrative Genetics (CIGENE) and Department of Animal and Aquacultural Sciences, Faculty of Biosciences, Norwegian University of Life Sciences, As, Norway.
Philos Trans R Soc Lond B Biol Sci. 2022 Aug;377(1856):20210195. doi: 10.1098/rstb.2021.0195. Epub 2022 Jun 13.
Supergenes link allelic combinations into non-recombining units known to play an essential role in maintaining adaptive genetic variation. However, because supergenes can be maintained over millions of years by balancing selection and typically exhibit strong recombination suppression, both the underlying functional variants and how the supergenes are formed are largely unknown. Particularly, questions remain over the importance of inversion breakpoint sequences and whether supergenes capture pre-existing adaptive variation or accumulate this following recombination suppression. To investigate the process of supergene formation, we identified inversion polymorphisms in Atlantic salmon by assembling eleven genomes with nanopore long-read sequencing technology. A genome assembly from the sister species, brown trout, was used to determine the standard state of the inversions. We found evidence for adaptive variation through genotype-environment associations, but not for the accumulation of deleterious mutations. One young 3 Mb inversion segregating in North American populations has captured adaptive variation that is still segregating within the standard arrangement of the inversion, while some adaptive variation has accumulated after the inversion. This inversion and two others had breakpoints disrupting genes. Three multigene inversions with matched repeat structures at the breakpoints did not show any supergene signatures, suggesting that shared breakpoint repeats may obstruct supergene formation. This article is part of the theme issue 'Genomic architecture of supergenes: causes and evolutionary consequences'.
超级基因将等位基因组合成非重组单位,这些单位被认为在维持适应性遗传变异方面起着至关重要的作用。然而,由于超级基因可以通过平衡选择在数百万年内得以维持,并且通常表现出强烈的重组抑制,因此其潜在的功能变体以及超级基因的形成方式在很大程度上仍然未知。特别是,关于倒位断点序列的重要性以及超级基因是否捕获预先存在的适应性变异或在重组抑制后积累这种变异的问题仍然存在。为了研究超级基因形成的过程,我们通过使用纳米孔长读测序技术组装十一个基因组,确定了大西洋鲑鱼中的倒位多态性。利用姐妹物种虹鳟的基因组组装来确定倒位的标准状态。我们通过基因型-环境关联找到了适应性变异的证据,但没有发现有害突变的积累。一个在北美种群中分离的年轻的 3Mb 倒位已经捕获了仍然在倒位标准排列中分离的适应性变异,而一些适应性变异是在倒位之后积累的。这个倒位和另外两个倒位的断点破坏了基因。三个具有匹配重复结构的多基因倒位在断点处没有显示出任何超级基因特征,这表明共享的断点重复可能会阻碍超级基因的形成。本文是主题为“超级基因的基因组结构:成因和进化后果”的一部分。