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利用单倍型和多 SNP 关联方法剖析大西洋鲑鱼成熟时间的相关基因座。

Dissecting the loci underlying maturation timing in Atlantic salmon using haplotype and multi-SNP based association methods.

机构信息

Organismal and Evolutionary Biology Research Programme, Faculty of Biological and Environmental Sciences University of Helsinki, Helsinki, Finland.

Institute of Biotechnology, Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.

出版信息

Heredity (Edinb). 2022 Dec;129(6):356-365. doi: 10.1038/s41437-022-00570-w. Epub 2022 Nov 10.

DOI:10.1038/s41437-022-00570-w
PMID:36357776
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9709158/
Abstract

Characterizing the role of different mutational effect sizes in the evolution of fitness-related traits has been a major goal in evolutionary biology for a century. Such characterization in a diversity of systems, both model and non-model, will help to understand the genetic processes underlying fitness variation. However, well-characterized genetic architectures of such traits in wild populations remain uncommon. In this study, we used haplotype-based and multi-SNP Bayesian association methods with sequencing data for 313 individuals from wild populations to test the mutational composition of known candidate regions for sea age at maturation in Atlantic salmon (Salmo salar). We detected an association at five loci out of 116 candidates previously identified in an aquaculture strain with maturation timing in wild Atlantic salmon. We found that at four of these five loci, variation explained by the locus was predominantly driven by a single SNP suggesting the genetic architecture of this trait includes multiple loci with simple, non-clustered alleles and a locus with potentially more complex alleles. This highlights the diversity of genetic architectures that can exist for fitness-related traits. Furthermore, this study provides a useful multi-SNP framework for future work using sequencing data to characterize genetic variation underlying phenotypes in wild populations.

摘要

一个世纪以来,描述不同突变效应大小在与适应度相关特征进化中的作用一直是进化生物学的主要目标。在多种系统(包括模式生物和非模式生物)中进行这种特征描述将有助于理解适应度变化的遗传过程。然而,在野生种群中,这些特征的遗传结构得到很好的描述仍然很少见。在这项研究中,我们使用基于单倍型和多 SNP 贝叶斯关联方法,对来自野生种群的 313 个人的测序数据进行了分析,以测试大西洋鲑(Salmo salar)成熟年龄的已知候选区域的突变组成。我们在之前在养殖大西洋鲑中鉴定的 116 个候选基因中检测到 5 个基因座的关联。我们发现,在这 5 个基因座中的 4 个基因座中,由该基因座解释的变异主要是由单个 SNP 驱动的,这表明该性状的遗传结构包括多个具有简单、非聚集等位基因的基因座和一个可能具有更复杂等位基因的基因座。这突出了与适应度相关的特征可能存在的遗传结构多样性。此外,这项研究为使用测序数据描述野生种群表型下遗传变异的未来工作提供了一个有用的多 SNP 框架。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/60ea/9709158/496fe3325bda/41437_2022_570_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/60ea/9709158/e9ffb8cd247e/41437_2022_570_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/60ea/9709158/496fe3325bda/41437_2022_570_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/60ea/9709158/e9ffb8cd247e/41437_2022_570_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/60ea/9709158/496fe3325bda/41437_2022_570_Fig2_HTML.jpg

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