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Search: id:"swepub:oai:DiVA.org:uu-22448" > Mutations in SLC45A...

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  • Gunnarsson, UlrikaUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Department of Medical Biochemistry and Microbiology Uppsala University (author)

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

  • Article/chapterEnglish2007

Publisher, publication year, extent ...

  • 2007-02-01
  • Oxford University Press (OUP),2007
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-22448
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-22448URI
  • https://doi.org/10.1534/genetics.106.063107DOI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-42129URI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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.

Subject headings and genre

  • MEDICINE
  • MEDICIN
  • NATURAL SCIENCES

Added entries (persons, corporate bodies, meetings, titles ...)

  • Hellström, Anders R.Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Department of Medical Biochemistry and Microbiology Uppsala university(Swepub:uu)anhel509 (author)
  • Tixier-Boichard, MicheleUMR Ge´ne´tique et DiversiteUMR Ge´ne´tique et Diversit INRA, France (author)
  • Minvielle, FrancisUMR Ge´ne´tique et Diversite Animales INRA, France (author)
  • Bed'hom, Bertrand¿UMR Ge´ne´tique et Diversite´ Animales INRA, France (author)
  • Ito, Shin'ichiFaculty of Applied Biological Sciences Gifu university, Japan (author)
  • Jensen, Per,1956-Linköpings universitet,Zoologi,Tekniska högskolan(Swepub:liu)perje15 (author)
  • Rattink, AnnemiekeEuribrid Breeding Research Centre Nutreco, The Netherlands (author)
  • Vereijken, AddieEuribrid Breeding Research Centre Nutreco, The Netherlands (author)
  • Andersson, LeifUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Department of Medical Biochemistry and Microbiology Uppsala university(Swepub:uu)leand227 (author)
  • Uppsala universitetInstitutionen för medicinsk biokemi och mikrobiologi (creator_code:org_t)

Related titles

  • In:Genetics: Oxford University Press (OUP)175:2, s. 867-8770016-67311943-2631

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