Article
A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse.
Nature genetics - 1 Aug 2008
Rosengren Pielberg Gerli, Golovko Anna, Sundström Elisabeth, Curik Ino, Lennartsson Johan, Seltenhammer Monika H, Druml Thomas, Binns Matthew, Fitzsimmons Carolyn, Lindgren Gabriella, Sandberg Kaj, Baumung Roswitha, Vetterlein Monika, Strömberg Sara, Grabherr Manfred, Wade Claire, Lindblad-Toh Kerstin, Pontén Fredrik, Heldin Carl-Henrik, Sölkner Johann, Andersson Leif
Abstract excerpt
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...
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