Albinism in the American mink (Neovison vison) is associated with a tyrosinase nonsense mutation

Anistoroaei, R; Fredholm, M; Christensen, K; Leeb, Tosso (2008). Albinism in the American mink (Neovison vison) is associated with a tyrosinase nonsense mutation. Animal genetics, 39(6), pp. 645-648. Blackwell 10.1111/j.1365-2052.2008.01788.x

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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 predicted 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.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Research Foci > DermFocus
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)

UniBE Contributor:

Leeb, Tosso

Subjects:

500 Science > 570 Life sciences; biology
500 Science > 590 Animals (Zoology)
600 Technology > 610 Medicine & health
600 Technology > 630 Agriculture

ISSN:

0268-9146

Publisher:

Blackwell

Language:

English

Submitter:

Tosso Leeb

Date Deposited:

14 Aug 2015 13:54

Last Modified:

15 Aug 2015 00:20

Publisher DOI:

10.1111/j.1365-2052.2008.01788.x

PubMed ID:

18822100

BORIS DOI:

10.7892/boris.70770

URI:

https://boris.unibe.ch/id/eprint/70770

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