Genetics, Vol. 168, 1507-1518, November 2004, Copyright © 2004
doi:10.1534/genetics.104.027995

The Dominant white, Dun and Smoky Color Variants in Chicken Are Associated With Insertion/Deletion Polymorphisms in the PMEL17 Gene

Susanne Kerje^*, Preety Sharma, Ulrika Gunnarsson^*, Hyun Kim, Sonchita Bagchi, Robert Fredriksson^**, Karin Schütz, Per Jensen^,1, Gunnar von Heijne, Ron Okimoto and Leif Andersson^*,,2

^* Department of Medical Biochemistry and Microbiology, Uppsala University, SE-751 24 Uppsala, Sweden
Department of Poultry Science, University of Arkansas, Fayetteville, Arkansas 72701
Department of Biochemistry and Biophysics, Stockholm University, SE-106 91 Stockholm, Sweden
Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, SE-751 24 Uppsala, Sweden
^** Department of Neuroscience, Uppsala University, SE-751 24 Uppsala, Sweden
Department of Animal Environment and Health, Section of Ethology, Swedish University of Agricultural Sciences, SE-532 23 Skara, Sweden

² Corresponding author: Department of Medical Biochemistry and Microbiology, Uppsala University, BMC, Box 597, SE-751 24 Uppsala, Sweden.
E-mail: leif.andersson{at}imbim.uu.se

Dominant white, Dun, and Smoky are alleles at the Dominant white locus, which is one of the major loci affecting plumage color in the domestic chicken. Both Dominant white and Dun inhibit the expression of black eumelanin. Smoky arose in a White Leghorn homozygous for Dominant white and partially restores pigmentation. PMEL17 encodes a melanocyte-specific protein and was identified as a positional candidate gene due to its role in the development of eumelanosomes. Linkage analysis of PMEL17 and Dominant white using a red jungle fowl/White Leghorn intercross revealed no recombination between these loci. Sequence analysis showed that the Dominant white allele was exclusively associated with a 9-bp insertion in exon 10, leading to an insertion of three amino acids in the PMEL17 transmembrane region. Similarly, a deletion of five amino acids in the transmembrane region occurs in the protein encoded by Dun. The Smoky allele shared the 9-bp insertion in exon 10 with Dominant white, as expected from its origin, but also had a deletion of 12 nucleotides in exon 6, eliminating four amino acids from the mature protein. These mutations are, together with the recessive silver mutation in the mouse, the only PMEL17 mutations with phenotypic effects that have been described so far in any species.

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