The Dominant white, Dun and Smoky Color Variants in Chicken Are Associated With Insertion/Deletion Polymorphisms in the PMEL17 GeneSequence data from this article have been deposited with the EMBL/GenBank Data Libraries under accession nos. AY636124, AY636125, AY636126, AY636127, AY636128, AY636129.

Abstract

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.

Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog

“…SILV encodes a melanosomal protein important in pigmentation (28) and maps to HSA12q13-q14, which exhibits conservation of synteny with CFA10 (29). A single base insertion in SILV causes the silver phenotype in the mouse (23), and polymorphisms in this gene are associated with the dominant white, dun, and smoky plumage color variants in chickens (30). The dilute coloration of Charolais cattle has also recently been attributed to a mutation in SILV (24).…”

A window on the genetics of evolution:MC1Rand plumage colouration in birds

“…Association studies using MC1R and other pigmentation loci (e.g. the recently documented PMEL17 in chickens (Kerje et al 2004)) may be useful when studying both Mendelian and quantitative plumage traits, either on their own or in conjunction with neutral markers. The disadvantages of a candidate gene strategy are apparent when a negative result is obtained, that is, there is no association between genotype at the candidate locus and phenotype.…”

Mutations in SLC45A2 Cause Plumage Color Variation in Chicken and Japanese Quail

“…cDNA sequencing plus 59 and 39 RACE: The First-Strand cDNA Synthesis kit (GE Healthcare Bio-Sciences) was used for cDNA synthesis from 14-day-old whole-embryo chicken total RNA (Kerje et al 2004). PCR amplifications were performed using the cDNAexon1F and cDNAexon7R primers (supplemental Table 1 at http:/ /www.genetics.org/supplemental/) and the reactions were carried out as described above but with minor changes: 130 ng of cDNA per reaction and 35 cycles on 51°constant annealing temperature.…”

“…We have previously demonstrated that Dominant white in White Leghorns is due to a 9-bp insertion in the coding sequence of PMEL17 (Kerje et al 2004) and Extended black represents a missense mutation in the gene for the melanocortin 1-receptor (MC1R) (Kerje et al 2003). Since the single The chicken L347M mutation associated with Silver.…”