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A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology.
Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, SE-751 24 Uppsala, Sweden.
Animal Science Department, Faculty of Agriculture, University of Zagreb, HR-10000 Zagreb, Croatia.
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2008 (English)In: Nature Genetics, ISSN 1061-4036, Vol. 40, no 8, 1004-1009 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2008. Vol. 40, no 8, 1004-1009 p.
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Biological Sciences
Identifiers
URN: urn:nbn:se:uu:diva-103700DOI: 10.1038/ng.185ISI: 000258026900018PubMedID: 18641652OAI: oai:DiVA.org:uu-103700DiVA: diva2:218641
Available from: 2009-05-20 Created: 2009-05-20 Last updated: 2012-03-14Bibliographically approved

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Pielberg, Gerli RosengrenLennartsson, JohanGrabherr, ManfredLindblad-Toh, KerstinPontén, FredrikHeldin, Carl-HenrikAndersson, Leif

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Pielberg, Gerli RosengrenLennartsson, JohanGrabherr, ManfredLindblad-Toh, KerstinPontén, FredrikHeldin, Carl-HenrikAndersson, Leif
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Department of Medical Biochemistry and MicrobiologyLudwig Institute for Cancer ResearchDepartment of Genetics and PathologyMolecular and Morphological Pathology
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