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doi:10.1534/genetics.106.063107
A more recent version of this article appeared on February 1, 2007.
REGULAR RESEARCH PAPERS |
Mutations in SLC45A2 Cause Plumage Color Variation in Chicken and Japanese Quail
Ulrika Gunnarsson 1, Anders R Hellström 1, Michele Tixier-Boichard 2, Francis Minvielle 2, Bertrand Bed'hom 2, Shin'ichi Ito 3, Per Jensen 4, Annemieke Rattink 5, Addie Vereijken 5 and Leif Andersson 1*
1 Uppsala University
2 UMR Génétique et Diversité Animales, INRA/INA P-G, Centre de Recherches de Jouy
3 Gifu University
4 IFM, Linköping
5 Euribrid Breeding Research Centre, Nutreco
* To whom correspondence should be addressed. E-mail: leif.andersson{at}imbim.uu.se.
Submitted on July 7, 2006
Revised on September 14, 2006
Accepted on 10 November 2006
S*S (Silver), S*N (wild-type/gold) and S*AL (sex-linked imperfect albinism) form a series of alleles at the S (Silver) locus on chicken (Gallus gallus) chromosome Z. Similarly, sex-linked imperfect albinism (AL*A) is the bottom recessive allele at the orthologous AL locus in Japanese quail (Coturnix japonica). The solute carrier family 45, member 2, protein (SLC45A2), previously denoted membrane associated transporter protein (MATP), has an important role in vesicle sorting in the melanocytes. Here we report five SLC45A2 mutations. The 106delT mutation in the chicken S*AL allele results in a frameshift and a premature stop codon and the corresponding mRNA appears to be degraded by nonsense-mediated mRNA decay. A splice site mutation in the Japanese quail AL*A allele causes in-frame skipping of exon 4. Two independent missense mutations (Tyr277Cys and Leu347Met) were associated with the Silver allele in chicken. The functional significance of the former mutation, only associated with Silver in White Leghorn, is unclear. Ala72Asp was associated with the cinnamon allele (AL*C) in the Japanese quail. The most interesting feature concerning the SLC45A2 variants documented in this study is the specific inhibition of expression of red pheomelanin in Silver chickens. This phenotypic effect cannot be explained based on the current, incomplete, understanding of SLC45A2 function. It is an enigma why recessive null mutations at this locus cause an almost complete absence of both eumelanin and pheomelanin whereas some missense mutations are dominant and cause a specific inhibition of pheomelanin production.
Key Words: Japanese quail, SLC45A2, chicken, imperfect albinism, pheomelanin
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