An allelic series at the EDNRB2 locus controls diverse piebalding patterns in the domestic pigeon.
An allelic series at the EDNRB2 locus controls diverse piebalding patterns in the domestic pigeon.
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DOI：
10.1371/journal.pgen.1010880
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发表时间：
2023-10
期刊：
影响因子：
4.5
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中科院分区：
文献类型：
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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，这些变化可能影响健康、繁殖成功和生存。家鸽（Columba livia）是了解导致不同色素图案的遗传变化的特殊模型，因为选择性育种已经产生了数百个羽毛颜色和图案差异很大的品种。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的羽毛斑块，这些羽毛图案通常是特定于品种的，并且在世代之间保持稳定。通过结合 F2 实验室杂交中的数量性状基因座作图和全基因组关联分析，我们确定了与许多鸽子品种的花斑相关的基因座。这个共享基因座包含一个候选基因 EDNRB2，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 EDNRB2 基因座上发现了多种不同的单倍型，其中包括与特定羽毛区域脱色相关的蛋白质编码、非编码和结构变异的混合。这些结果确定了 EDNRB2 在家鸽色素图案形成中的作用，并强调了单个基因座的重复选择如何产生多种稳定且可遗传的色素图案。野生和家养鸟类的色素图案都表现出显着的差异，这些色素图案在配偶选择、交流和伪装中发挥着关键作用。尽管色素图案对于生存和繁殖成功很重要，但控制色素图案的机制仍不完全清楚。在家鸽中，人工选择在单一物种内产生了多种色素沉着模式，包括一系列称为“花斑”的表型，其特征是羽毛色素的区域性损失。在这里，我们利用家鸽中各种不同的花斑表型来绘制区域特异性羽毛色素损失的遗传基础。我们没有关注单一的花斑图案，而是通过检查具有不同花斑图案的几个品种来广泛了解区域色素损失的遗传控制。我们使用遗传杂交和全基因组关联研究比较了花斑鸽和非花斑鸽的基因组，并确定了影响内皮素受体基因 EDNRB2 的几种遗传变化。我们的研究结果强调了单个位点的独立突变如何驱动物种内羽毛色素图案的多样化。
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. Both wild and domestic birds show striking variation in pigment patterning, and these pigment patterns can play critical roles in mate choice, communication, and camouflage. Despite the importance of pigment patterning for survival and reproductive success, the mechanisms that control pigment patterning remain incompletely understood. In domestic pigeons, artificial selection has given rise to a wide array of pigmentation patterns within a single species, including a suite of phenotypes called “piebalding” that is characterized by regional loss of feather pigment. Here, we took advantage of the wide array of distinct piebalding phenotypes in domestic pigeons to map the genetic basis of region-specific loss of plumage pigment. Rather than focusing on a single piebalding pattern, we sought to broadly understand genetic control of regional pigment loss by examining several breeds with different piebalding patterns. We compared the genomes of piebald and non-piebald pigeons using both genetic crosses and genome-wide association studies, and identified several genetic changes affecting the endothelin receptor gene EDNRB2. Our findings highlight how independent mutations at a single locus can drive diversification of plumage pigment patterning within a species.