期刊
PIGMENT CELL & MELANOMA RESEARCH
卷 34, 期 6, 页码 1015-1028出版社
WILEY
DOI: 10.1111/pcmr.12975
关键词
chicken; feather patterning; genetics; MC1R; pigmentation; SOX10
资金
- Vetenskapsradet
- Knut och Alice Wallenbergs Stiftelse
- Foundation for the National Institutes of Health [AR060306]
The study reveals that the MC1R and SOX10 genes are associated with the genetic basis of autosomal barring in chicken, with the coding variant L133Q in MC1R being the likely causal mutation. The presence of activating MC1R mutations enhancing pigment synthesis is proposed as an important mechanism for pigmentation patterns on individual feathers in chicken.
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.
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