Premium
Association of a single‐nucleotide substitution in TYRP1 with roux in Japanese quail ( Coturnix japonica )
Author(s) -
Nadeau N. J.,
Mundy N. I.,
Gourichon D.,
Minvielle F.
Publication year - 2007
Publication title -
animal genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.756
H-Index - 81
eISSN - 1365-2052
pISSN - 0268-9146
DOI - 10.1111/j.1365-2052.2007.01667.x
Subject(s) - quail , biology , genetics , coturnix coturnix , coturnix japonica , linkage disequilibrium , phenotype , plumage , locus (genetics) , exon , japonica , mutation , sex linkage , single nucleotide polymorphism , gene , genotype , chromosome , endocrinology , zoology , botany
Summary We investigated TYRP1 as a candidate locus for the recessive, sex‐linked roux ( br r ) phenotype in Japanese quail. A screen of the entire coding sequence of TYRP1 in roux and wild‐type quail revealed a non‐synonymous T‐to‐C substitution in exon 3, leading to a Phe282Ser mutation. This was perfectly associated with plumage phenotype: all roux birds were homozygous for Ser282. Co‐segregation of the Phe282Ser mutation with the roux phenotype was confirmed in three br r /BR + × br r /– backcrosses. We found no significant difference in TYRP1 expression between roux and wild‐type birds, suggesting that this association is not due to linkage disequilibrium with an unknown regulatory mutation. In addition, the Phe282 amino acid appears to be of functional significance, as it is highly conserved across the vertebrates. This is the first demonstration that TYRP1 has a role in pigmentation in birds.