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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
8
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pubmed:dateCreated |
2008-7-30
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pubmed:abstractText |
In horses, graying with age is an autosomal dominant trait associated with a high incidence of melanoma and vitiligo-like depigmentation. Here we show that the Gray phenotype is caused by a 4.6-kb duplication in intron 6 of STX17 (syntaxin-17) that constitutes a cis-acting regulatory mutation. Both STX17 and the neighboring NR4A3 gene are overexpressed in melanomas from Gray horses. Gray horses carrying a loss-of-function mutation in ASIP (agouti signaling protein) had a higher incidence of melanoma, implying that increased melanocortin-1 receptor signaling promotes melanoma development in Gray horses. The Gray horse provides a notable example of how humans have cherry-picked mutations with favorable phenotypic effects in domestic animals.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1546-1718
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pubmed:author |
pubmed-author:AnderssonLeifL,
pubmed-author:BaumungRoswithaR,
pubmed-author:BinnsMatthewM,
pubmed-author:CurikInoI,
pubmed-author:DrumlThomasT,
pubmed-author:FitzsimmonsCarolynC,
pubmed-author:GolovkoAnnaA,
pubmed-author:GrabherrManfredM,
pubmed-author:HeldinCarl-HenrikCH,
pubmed-author:LennartssonJohanJ,
pubmed-author:Lindblad-TohKerstinK,
pubmed-author:LindgrenGabriellaG,
pubmed-author:PonténFredrikF,
pubmed-author:Rosengren PielbergGerliG,
pubmed-author:SölknerJohannJ,
pubmed-author:SandbergKajK,
pubmed-author:SeltenhammerMonika HMH,
pubmed-author:StrömbergSaraS,
pubmed-author:SundströmElisabethE,
pubmed-author:VetterleinMonikaM,
pubmed-author:WadeClaireC
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pubmed:issnType |
Electronic
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pubmed:volume |
40
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1004-9
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:18641652-Animals,
pubmed-meshheading:18641652-Cell Line, Tumor,
pubmed-meshheading:18641652-Gene Duplication,
pubmed-meshheading:18641652-Genetic Predisposition to Disease,
pubmed-meshheading:18641652-Hair Color,
pubmed-meshheading:18641652-Horses,
pubmed-meshheading:18641652-Humans,
pubmed-meshheading:18641652-Melanoma,
pubmed-meshheading:18641652-Mice,
pubmed-meshheading:18641652-Molecular Sequence Data,
pubmed-meshheading:18641652-Qa-SNARE Proteins,
pubmed-meshheading:18641652-Receptor, Melanocortin, Type 1,
pubmed-meshheading:18641652-Receptors, Cytoplasmic and Nuclear,
pubmed-meshheading:18641652-Selection, Genetic
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pubmed:year |
2008
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pubmed:articleTitle |
A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse.
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pubmed:affiliation |
Department of Medical Biochemistry and Microbiology, Uppsala University, Box 597, SE-751 24 Uppsala, Sweden.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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