Maclary Emily T, Wauer Ryan, Phillips Bridget, Brown Audrey, Boer Elena F, Samani Atoosa M, Shapiro Michael D
School of Biological Sciences, University of Utah, Salt Lake City, UT 84112, USA.
bioRxiv. 2023 Jul 26:2023.07.26.550625. doi: 10.1101/2023.07.26.550625.
Variation in pigment patterns within and among vertebrate species reflects underlying changes in cell migration and function that can impact health, reproductive success, and survival. The domestic pigeon () is an exceptional model for understanding the genetic changes that give rise to diverse pigment patterns, as selective breeding has given rise to hundreds of breeds with extensive variation in plumage color and pattern. Here, we map the genetic architecture of a suite of pigmentation phenotypes known as piebalding. Piebalding is characterized by patches of pigmented and non-pigmented feathers, and these plumage patterns are often breed-specific and stable across generations. Using a combination of quantitative trait locus mapping in F laboratory crosses and genome-wide association analysis, we identify a locus associated with piebalding across many pigeon breeds. This shared locus harbors a candidate gene, that is a known regulator of pigment cell migration, proliferation, and survival. We discover multiple distinct haplotypes at the locus in piebald pigeons, which include a mix of protein-coding, noncoding, and structural variants that are associated with depigmentation in specific plumage regions. These results identify a role for in pigment patterning in the domestic pigeon, and highlight how repeated selection at a single locus can generate a diverse array of stable and heritable pigment patterns.
脊椎动物物种内部和之间色素模式的变化反映了细胞迁移和功能的潜在变化,这些变化会影响健康、繁殖成功率和生存。家鸽()是理解导致多种色素模式的遗传变化的一个特殊模型,因为选择性育种产生了数百个羽毛颜色和图案有广泛差异的品种。在这里,我们绘制了一组称为花斑的色素沉着表型的遗传结构。花斑的特征是有色素和无色素羽毛的斑块,这些羽毛图案通常具有品种特异性且代代稳定。通过在F实验室杂交中进行数量性状基因座定位和全基因组关联分析相结合的方法,我们在许多鸽子品种中鉴定出一个与花斑相关的基因座。这个共享基因座包含一个候选基因,它是色素细胞迁移、增殖和存活的已知调节因子。我们在花斑鸽子的基因座上发现了多个不同的单倍型,其中包括与特定羽毛区域色素脱失相关的蛋白质编码、非编码和结构变异的混合。这些结果确定了在家鸽色素图案形成中的作用,并突出了在单个基因座上的重复选择如何能产生各种各样稳定且可遗传的色素模式。