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Originally published as Genetics Published Articles Ahead of Print on December 6, 2006.

Genetics, Vol. 175, 867-877, February 2007, Copyright © 2007
doi:10.1534/genetics.106.063107

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

Ulrika Gunnarsson*,1, Anders R. Hellström*,1, Michele Tixier-Boichard{dagger}, Francis Minvielle{dagger}, Bertrand Bed'hom{dagger}, Shin'ichi Ito{ddagger}, Per Jensen§, Annemieke Rattink**, Addie Vereijken** and Leif Andersson*,{dagger}{dagger},2

* Department of Medical Biochemistry and Microbiology, Uppsala University, SE-75124 Uppsala, Sweden, {dagger} UMR Génétique et Diversité Animales, INRA/INA P-G, 78352 Jouy-en-Josas, France, {ddagger} Faculty of Applied Biological Sciences, Gifu University, Gifu 501-1193, Japan, § Section for Biology, Linköping University, SE-58183 Linköping, Sweden, ** Euribrid Breeding Research Centre, Nutreco, 5830 AE Boxmeer, The Netherlands and {dagger}{dagger} Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, SE-75124 Uppsala, Sweden

2 Corresponding author: Department of Medical Biochemistry and Microbiology, Uppsala University, BMC/Box 597, SE-75124 Uppsala, Sweden. 
E-mail: leif.andersson{at}imbim.uu.se

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, associated only 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 on the basis of 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.




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S. Fukamachi, M. Kinoshita, T. Tsujimura, A. Shimada, S. Oda, A. Shima, A. Meyer, S. Kawamura, and H. Mitani
Rescue From Oculocutaneous Albinism Type 4 Using Medaka slc45a2 cDNA Driven by Its Own Promoter
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[Abstract] [Full Text] [PDF]


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