关键词: MC1R continuous colour variation melanin selection whole-genome sequencing

Mesh : Humans Animals Strigiformes / genetics Color Genome-Wide Association Study Genomics Genotype

来  源:   DOI:10.1098/rspb.2023.1995   PDF(Pubmed)

Abstract:
The maintenance of colour variation in wild populations has long fascinated evolutionary biologists, although most studies have focused on discrete traits exhibiting rather simple inheritance patterns and genetic architectures. However, the study of continuous colour traits and their potentially oligo- or polygenic genetic bases remains rare in wild populations. We studied the genetics of the continuously varying white-to-rufous plumage coloration of the European barn owl (Tyto alba) using a genome-wide association approach on the whole-genome data of 75 individuals. We confirmed a mutation at the melanocortin-1-receptor gene (MC1R) is involved in the coloration and identified two new regions, located in super-scaffolds 9 and 42. The combination of the three regions explains most of the colour variation (80.37%, 95% credible interval 58.45-100%). One discovered region, located in the sex chromosome, differs between the most extreme colorations in owls sharing a specific MC1R genotype. This region may play a role in the colour sex dimorphism of this species, possibly in interaction with the autosomal MC1R. We thus provide insights into the genetic architecture of continuous colour variation, pointing to an oligogenic basis with potential epistatic effects among loci that should aid future studies understanding how continuous colour variation is maintained in nature.
摘要:
保持野生种群的颜色变化长期以来一直使进化生物学家着迷,尽管大多数研究都集中在表现出相当简单的遗传模式和遗传结构的离散性状上。然而,在野生种群中,对连续颜色性状及其潜在的寡或多基因遗传基础的研究仍然很少。我们使用全基因组关联方法对75个个体的全基因组数据研究了欧洲谷仓猫头鹰(Tytoalba)不断变化的白色至红色羽毛颜色的遗传学。我们证实了黑皮质素-1受体基因(MC1R)的突变与着色有关,并确定了两个新的区域,位于超级脚手架9和42中。这三个区域的组合解释了大部分的颜色变化(80.37%,95%可信区间58.45-100%)。一个发现的区域,位于性染色体中,在共享特定MC1R基因型的猫头鹰中最极端的颜色之间存在差异。该区域可能在该物种的颜色性别二态中起作用,可能与常染色体MC1R相互作用。因此,我们提供了对连续颜色变异的遗传结构的见解,指出了在基因座之间具有潜在上位效应的寡基因基础,这将有助于未来的研究了解自然界中如何保持连续的颜色变化。
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