Albinism in the american mink (Neovison vison) is associated with a tyrosinase nonsense mutation
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Albinism in the american mink (Neovison vison) is associated with a tyrosinase nonsense mutation. / Anistoroaei, Razvan Marian; Fredholm, Merete; Christensen, Knud; Leeb, T.
I: Animal Genetics, Bind 39, Nr. 6, 2008, s. 645-648.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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T1 - Albinism in the american mink (Neovison vison) is associated with a tyrosinase nonsense mutation
AU - Anistoroaei, Razvan Marian
AU - Fredholm, Merete
AU - Christensen, Knud
AU - Leeb, T.
PY - 2008
Y1 - 2008
N2 - Albino phenotypes are documented in various species including the American mink. In other species the albino phenotypes are associated with tyrosinase (TYR) gene mutations; therefore TYR was considered the candidate gene for albinism in mink. Four microsatellite markers were chosen in the prodicted region of the TYR gene. Genotypes at the markers Mvi6025 and Mvi6034 were found to be associated with the albino phenotype within an extended half-sib family. A BAC clone containing Mvi6034 was mapped to chromosome 7q1.1-q1.3 by fluorescent in situ hybridization. Subsequent analysis of genomic TYR sequences from wild-type and albino mink samples identified a nonsense mutation in exon 1, which converts a TGT codon encoding cysteine to a TGA stop codon (c.138T>A, p.C46X; EU627590). The mutation truncates more than 90% of the normal gene product including the putative catalytic domains. The results indicate that the nonsense mutation is responsible for the albino phenotype in the American mink.
AB - Albino phenotypes are documented in various species including the American mink. In other species the albino phenotypes are associated with tyrosinase (TYR) gene mutations; therefore TYR was considered the candidate gene for albinism in mink. Four microsatellite markers were chosen in the prodicted region of the TYR gene. Genotypes at the markers Mvi6025 and Mvi6034 were found to be associated with the albino phenotype within an extended half-sib family. A BAC clone containing Mvi6034 was mapped to chromosome 7q1.1-q1.3 by fluorescent in situ hybridization. Subsequent analysis of genomic TYR sequences from wild-type and albino mink samples identified a nonsense mutation in exon 1, which converts a TGT codon encoding cysteine to a TGA stop codon (c.138T>A, p.C46X; EU627590). The mutation truncates more than 90% of the normal gene product including the putative catalytic domains. The results indicate that the nonsense mutation is responsible for the albino phenotype in the American mink.
U2 - 10.1111/j.1365-2052.2008.01788.x
DO - 10.1111/j.1365-2052.2008.01788.x
M3 - Journal article
C2 - 18822100
VL - 39
SP - 645
EP - 648
JO - Animal Genetics
JF - Animal Genetics
SN - 0268-9146
IS - 6
ER -
ID: 8671678