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Provedor de dados:  Inra
País:  France
Título:  Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail
Autores:  GUNNARSSON
HELLSTROM
Boichard, M.
Minvielle, F.
Bed'Hom, B.
ITO
JENSEN
RATTINK
VEREIJKEN
ANDERSSON
Data:  2007
Ano:  2007
Palavras-chave:  POULET
CAILLE
GENE SLC45A2
COLORATION DU PLUMAGE
Resumo:  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 thebottom recessive allele at the orthologous AL locus in Japanese quail (Coturnix japonica). The solutecarrier family 45, member 2, protein (SLC45A2), previously denoted membrane-associated transporterprotein (MATP), has an important role in vesicle sorting in the melanocytes. Here we report five SLC45A2mutations. The 106delT mutation in the chicken S*AL allele results in a frameshift and a premature stopcodon and the corresponding mRNA appears to be degraded by nonsense-mediated mRNA decay. Asplice-site mutation in the Japanese quail AL*A allele causes in-frame skipping of exon 4. Two independentmissense 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, isunclear. Ala72Asp was associated with the cinnamon allele (AL*C) in the Japanese quail. The mostinteresting feature concerning the SLC45A2 variants documented in this study is the specific inhibition ofexpression of red pheomelanin in Silver chickens. This phenotypic effect cannot be explained on the basisof the current, incomplete, understanding of SLC45A2 function. It is an enigma why recessive nullmutations at this locus cause an almost complete absence of both eumelanin and pheomelanin whereassome missense mutations are dominant and cause a specific inhibition of pheomelanin production.
Tipo:  Journal Article
Idioma:  Inglês
Identificador:  http://www.prodinra.inra.fr/prodinra/pinra/doc.xsp?id=PROD2008c7569b3&uri=/notices/prodinra1/2008/08/

http://www.prodinra.inra.fr/prodinra/pinra/data/2008/05/PROD2008c7569b3_20080522061535356.pdf
Formato:  application/pdf
Fonte:  Genetics. 2007, 175 : 867-877
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