School of Biological Sciences, University of Utah, Salt Lake City, Utah, United States of America.
PLoS Genet. 2023 Oct 20;19(10):e1010880. doi: 10.1371/journal.pgen.1010880. eCollection 2023 Oct.
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 (Columba livia) 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 F2 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, EDNRB2, that is a known regulator of pigment cell migration, proliferation, and survival. We discover multiple distinct haplotypes at the EDNRB2 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 EDNRB2 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的色素模式变化反映了细胞迁移和功能的潜在变化，这些变化可能会影响健康、繁殖成功率和生存。家鸽（Columba livia）是理解导致多种色素模式的遗传变化的理想模型，因为选择性繁殖产生了数百个品种，其羽毛颜色和图案有广泛的变化。在这里，我们绘制了一系列被称为斑驳的色素表型的遗传结构。斑驳的特征是有色和无色羽毛的斑块，这些羽毛图案通常是特定于品种的，并且在几代之间保持稳定。我们使用 F2 实验室杂交的数量性状基因座作图和全基因组关联分析的组合，确定了与许多鸽子品种的斑驳相关的一个位点。这个共享的位点包含一个候选基因 EDNRB2，它是已知的色素细胞迁移、增殖和存活的调节剂。我们在家鸽中发现了 EDNRB2 位点的多个不同单倍型，其中包括混合了编码蛋白、非编码和结构变异的单倍型，这些变异与特定羽毛区域的脱色有关。这些结果确定了 EDNRB2 在家鸽色素模式形成中的作用，并强调了在单个位点的重复选择如何产生多样化的稳定和可遗传的色素模式。
