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鸡的常染色体羽纹斑驳与 MC1R 基因座的分离密切相关。

The feather pattern autosomal barring in chicken is strongly associated with segregation at the MC1R locus.

机构信息

Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.

Université Paris-Saclay, INRAE, AgroParisTech, GABI, Jouy-en-Josas, France.

出版信息

Pigment Cell Melanoma Res. 2021 Nov;34(6):1015-1028. doi: 10.1111/pcmr.12975. Epub 2021 May 4.

Abstract

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.

摘要

个体羽毛中的颜色图案在鸟类中很常见,但对于导致这种图案的遗传机制知之甚少。在这里,我们研究了鸡体染色体条纹的遗传基础,这是一种个体羽毛上的水平条纹图案。利用信息丰富的回交,我们证明 MC1R 基因座与这种表型强烈相关。SOX10 缺失本身导致深褐色表型,会影响条纹图案的表现。MC1R 中的编码变异 L133Q 很可能是该家系中体染色体条纹的致病突变。此外,在六个表现出不同图案表型的不同品种中进行的遗传筛选表明,这些品种之间最显著的共同特征是它们都携带 Birchen 或棕色的 MC1R 等位基因。我们的数据表明,增强色素合成的激活 MC1R 突变的存在是鸡个体羽毛中色素图案的重要机制。我们提出 MC1R 和其拮抗剂 ASIP 通过在图灵反应-扩散模型中充当激活剂和抑制剂,可能在决定鸟类个体羽毛中的色素图案方面发挥关键作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a660/8484376/8bfb5424e6db/nihms-1723557-f0001.jpg

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