通过多效性和连锁实现的适应性:关联图谱揭示了棘鱼基因座内复杂的遗传结构。

Adaptation via pleiotropy and linkage: Association mapping reveals a complex genetic architecture within the stickleback locus.

作者信息

Archambeault Sophie L, Bärtschi Luis R, Merminod Aurélie D, Peichel Catherine L

机构信息

Institute of Ecology and Evolution University of Bern Bern 3012 Switzerland.

Graduate Program in Molecular and Cellular Biology University of Washington Seattle Washington 98195.

出版信息

Evol Lett. 2020 May 27;4(4):282-301. doi: 10.1002/evl3.175. eCollection 2020 Aug.

Abstract

Genomic mapping of the loci associated with phenotypic evolution has revealed genomic "hotspots," or regions of the genome that control multiple phenotypic traits. This clustering of loci has important implications for the speed and maintenance of adaptation and could be due to pleiotropic effects of a single mutation or tight genetic linkage of multiple causative mutations affecting different traits. The threespine stickleback () is a powerful model for the study of adaptive evolution because the marine ecotype has repeatedly adapted to freshwater environments across the northern hemisphere in the last 12,000 years. Freshwater ecotypes have repeatedly fixed a 16 kilobase haplotype on chromosome IV that contains (), a gene known to affect multiple traits, including defensive armor plates, lateral line sensory hair cells, and schooling behavior. Many additional traits have previously been mapped to a larger region of chromosome IV that encompasses the freshwater haplotype. To identify which of these traits specifically map to this adaptive haplotype, we made crosses of rare marine fish heterozygous for the freshwater haplotype in an otherwise marine genetic background. Further, we performed fine-scale association mapping in a fully interbreeding, polymorphic population of freshwater stickleback to disentangle the effects of pleiotropy and linkage on the phenotypes affected by this haplotype. Although we find evidence that linked mutations have small effects on a few phenotypes, a small 1.4-kb region within the first intron of has large effects on three phenotypic traits: lateral plate count, and both the number and patterning of the posterior lateral line neuromasts. Thus, the haplotype is a hotspot of adaptation in stickleback due to both a small, pleiotropic region affecting multiple traits as well as multiple linked mutations affecting additional traits.

摘要

与表型进化相关的基因座的基因组图谱揭示了基因组“热点”,即控制多个表型性状的基因组区域。基因座的这种聚类对适应的速度和维持具有重要意义,这可能是由于单个突变的多效性效应或影响不同性状的多个致病突变的紧密遗传连锁。三刺鱼()是研究适应性进化的有力模型,因为在过去12000年里,海洋生态型在北半球多次适应淡水环境。淡水生态型在第四条染色体上多次固定了一个16千碱基的单倍型,其中包含(),这是一个已知影响多个性状的基因,包括防御性甲胄、侧线感觉毛细胞和集群行为。许多其他性状此前已被定位到第四条染色体上一个更大的区域,该区域包含淡水单倍型。为了确定这些性状中哪些具体定位于这种适应性单倍型,我们在其他海洋遗传背景下,让携带淡水单倍型的罕见海洋鱼类进行杂交。此外,我们在一个完全杂交、多态的淡水三刺鱼种群中进行了精细尺度的关联图谱分析,以理清多效性和连锁对受该单倍型影响的表型的作用。尽管我们发现有证据表明连锁突变对一些表型有微小影响,但基因第一个内含子内一个小的1.4千碱基区域对三个表型性状有很大影响:侧板数量、后侧线神经丘的数量和模式。因此,由于一个影响多个性状的小的多效性区域以及影响其他性状的多个连锁突变,基因单倍型是三刺鱼适应的一个热点。

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