Association of a single-nucleotide substitution in TYRP1 with roux in Japanese quail (Coturnix japonica) |
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Authors: | Nadeau N J Mundy N I Gourichon D Minvielle F |
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Institution: | Department of Zoology, University of Cambridge, Downing Street, Cambridge CB2 3EJ, UK.;UE997 INRA Génétique Factorielle Avicole, INRA, 37380 Nouzilly, France.;UMR1236 Génétique et DiversitéAnimales, INRA bât 211, 78352 Jouy-en-Josas Cedex, France |
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Abstract: | 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+ x 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. |
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Keywords: | pigmentation quail roux sex-linked TYRP1 |
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