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The feather pattern autosomal barring in chicken is strongly associated with segregation at the MC1R locus
Pigment Cell & Melanoma Research ( IF 3.9 ) Pub Date : 2021-04-01 , DOI: 10.1111/pcmr.12975
Doreen Schwochow 1, 2 , Susanne Bornelöv 3 , Tingxing Jiang 4 , Jingyi Li 5, 6 , David Gourichon 7 , Bertrand Bed'Hom 2 , Ben J Dorshorst 5 , Cheng-Ming Chuong 4 , Michèle Tixier-Boichard 2 , Leif Andersson 1, 3, 6
Affiliation  

Color patterns within individual feathers are common in birds but little is known about the genetic mechanisms causing such patterns. Here, we investigate the genetic basis for autosomal barring in chicken, a horizontal striping pattern on individual feathers. Using an informative backcross, we demonstrate that the MC1R locus is strongly associated with this phenotype. A deletion at SOX10, underlying the dark brown phenotype on its own, affects the manifestation of the barring pattern. The coding variant L133Q in MC1R is the most likely causal mutation for autosomal barring in this pedigree. Furthermore, a genetic screen across six different breeds showing different patterning phenotypes revealed that the most striking shared characteristics among these breeds were that they all carried the MC1R alleles Birchen or brown. Our data suggest that the presence of activating MC1R mutations enhancing pigment synthesis is an important mechanism underlying pigmentation patterns on individual feathers in chicken. We propose that MC1R and its antagonist ASIP play a critical role for determining within-feather pigmentation patterns in birds by acting as activator and inhibitor possibly in a Turing reaction–diffusion model.

中文翻译:


鸡的羽毛模式常染色体禁止与 MC1R 基因座的分离密切相关



鸟类羽毛中的颜色图案很常见,但人们对导致这种图案的遗传机制知之甚少。在这里,我们研究了鸡常染色体条纹(个体羽毛上的水平条纹图案)的遗传基础。使用信息丰富的回交,我们证明MC1R基因座与该表型密切相关。 SOX10的缺失(其本身是深棕色表型的基础)会影响限制模式的表现。 MC1R中的编码变体 L133Q 是该谱系中常染色体禁止最有可能的因果突变。此外,对显示不同模式表型的六个不同品种的遗传筛选表明,这些品种中最显着的共同特征是它们都携带MC1R等位基因BirchenBrown 。我们的数据表明,激活MC1R突变的存在增强色素合成是鸡个体羽毛色素沉着模式的重要机制。我们认为 MC1R 及其拮抗剂 ASIP 在确定鸟类羽毛内色素沉着模式方面发挥着关键作用,可能在图灵反应扩散模型中充当激活剂和抑制剂。
更新日期:2021-04-01
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