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本文引用的文献

1
Jasmine and Iris: population-scale structural variant comparison and analysis.茉莉花和虹膜:人群规模结构变异比较与分析。
Nat Methods. 2023 Mar;20(3):408-417. doi: 10.1038/s41592-022-01753-3. Epub 2023 Jan 19.
2
Association mapping of colour variation in a butterfly provides evidence that a supergene locks together a cluster of adaptive loci.蝴蝶颜色变异的关联图谱提供了证据,证明一个超级基因将一组适应性基因座锁定在一起。
Philos Trans R Soc Lond B Biol Sci. 2022 Aug;377(1856):20210193. doi: 10.1098/rstb.2021.0193. Epub 2022 Jun 13.
3
Inversion invasions: when the genetic basis of local adaptation is concentrated within inversions in the face of gene flow.倒位入侵:当面对基因流时,局部适应的遗传基础集中在倒位区内。
Philos Trans R Soc Lond B Biol Sci. 2022 Aug;377(1856):20210200. doi: 10.1098/rstb.2021.0200. Epub 2022 Jun 13.
4
Intralocus conflicts associated with a supergene.与超基因相关的基因内冲突。
Nat Commun. 2022 Mar 16;13(1):1384. doi: 10.1038/s41467-022-29033-w.
5
Haplotype-aware variant calling with PEPPER-Margin-DeepVariant enables high accuracy in nanopore long-reads.使用 PEPPER-Margin-DeepVariant 进行单体型感知变异调用可实现纳米孔长读段的高精度。
Nat Methods. 2021 Nov;18(11):1322-1332. doi: 10.1038/s41592-021-01299-w. Epub 2021 Nov 1.
6
PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation.PRINCESS:单倍型解析 SNVs、SVs 和甲基化的综合检测。
Genome Biol. 2021 Sep 14;22(1):268. doi: 10.1186/s13059-021-02486-w.
7
Fast two-stage phasing of large-scale sequence data.大规模序列数据的快速两阶段相位测定。
Am J Hum Genet. 2021 Oct 7;108(10):1880-1890. doi: 10.1016/j.ajhg.2021.08.005. Epub 2021 Sep 2.
8
Inversion breakpoints and the evolution of supergenes.倒位断点与超级基因的演化。
Mol Ecol. 2021 Jun;30(12):2738-2755. doi: 10.1111/mec.15907. Epub 2021 Apr 28.
9
The Genomic Architecture and Evolutionary Fates of Supergenes.超级基因的基因组结构和进化命运。
Genome Biol Evol. 2021 May 7;13(5). doi: 10.1093/gbe/evab057.
10
Mutation load at a mimicry supergene sheds new light on the evolution of inversion polymorphisms.拟态超级基因的突变负荷为反转多态性的进化提供了新的线索。
Nat Genet. 2021 Mar;53(3):288-293. doi: 10.1038/s41588-020-00771-1. Epub 2021 Jan 25.

超级基因从大西洋鲑鱼的倒位中出现。

The emergence of supergenes from inversions in Atlantic salmon.

机构信息

Centre for Integrative Genetics (CIGENE) and Department of Animal and Aquacultural Sciences, Faculty of Biosciences, Norwegian University of Life Sciences, As, Norway.

出版信息

Philos Trans R Soc Lond B Biol Sci. 2022 Aug;377(1856):20210195. doi: 10.1098/rstb.2021.0195. Epub 2022 Jun 13.

DOI:10.1098/rstb.2021.0195
PMID:35694753
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9189505/
Abstract

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'.

摘要

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。