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A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse.

Nature genetics | Aug 30, 2008

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.

Pubmed ID: 18641652 RIS Download

Mesh terms: Animals | Cell Line, Tumor | Gene Duplication | Genetic Predisposition to Disease | Hair Color | Horses | Humans | Melanoma | Mice | Molecular Sequence Data | Qa-SNARE Proteins | Receptor, Melanocortin, Type 1 | Receptors, Cytoplasmic and Nuclear | Selection, Genetic

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