Linked Life Data

18822100

Source:http://linkedlifedata.com/resource/pubmed/id/18822100

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2008-11-26
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1365-2052
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
39
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
645-8
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Albinism in the American mink (Neovison vison) is associated with a tyrosinase nonsense mutation.
pubmed:affiliation
Division of Animal Genetics and Bioinformatics, Department of Basic Animal and Veterinary Sciences, The Faculty of Life Sciences, University of Copenhagen, Groennegaardsvej 3, DK-1870 Frederiksberg C, Denmark. ran@life.ku.dk
pubmed:publicationType
Journal Article