title: Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail.
abstract: 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.
authors.affiliation: Department of Medical Biochemistry and Microbiology, Uppsala University, SE-75124 Uppsala, Sweden.
authors.forename: Ulrika
authors.initials: U
authors.lastname: Gunnarsson
authors.forename: Anders R
authors.initials: AR
authors.lastname: Hellström
authors.forename: Michele
authors.initials: M
authors.lastname: Tixier-Boichard
authors.forename: Francis
authors.initials: F
authors.lastname: Minvielle
authors.forename: Bertrand
authors.initials: B
authors.lastname: Bed'hom
authors.forename: Shin'ichi
authors.initials: S
authors.lastname: Ito
authors.forename: Per
authors.initials: P
authors.lastname: Jensen
authors.forename: Annemieke
authors.initials: A
authors.lastname: Rattink
authors.forename: Addie
authors.initials: A
authors.lastname: Vereijken
authors.forename: Leif
authors.initials: L
authors.lastname: Andersson
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001947:Breeding; D002645:Chickens / Q000235:genetics*; D003370:Coturnix / Q000235:genetics*; D003433:Crosses, Genetic; D005091:Exons / Q000235:genetics; D005241:Feathers / Q000378:metabolism*; D005260:Female; D005786:Gene Expression Regulation; D008040:Genetic Linkage; D008297:Male; D026901:Membrane Transport Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010858:Pigmentation / Q000235:genetics*; D011110:Polymorphism, Genetic; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA
chemical_list: D026901:Membrane Transport Proteins; D012333:RNA, Messenger