Paper on grey out finally!

[summerhorse]

Nature Genetics
Published online: 20 July 2008 | doi:10.1038/ng.185

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

Gerli Rosengren Pielberg1, Anna Golovko1,12, Elisabeth Sundström2,12, Ino Curik3, Johan Lennartsson4, Monika H Seltenhammer5, Thomas Druml6, Matthew Binns7, Carolyn Fitzsimmons1, Gabriella Lindgren2, Kaj Sandberg2, Roswitha Baumung6, Monika Vetterlein8, Sara Strömberg9, Manfred Grabherr10, Claire Wade10,11, Kerstin Lindblad-Toh1,10, Fredrik Pontén9, Carl-Henrik Heldin4, Johann Sölkner6 & Leif Andersson1,2

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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http://www.nature.com:80/ng/journal/vao ... g.185.html

Not sure how you can get the whole article without being a subscriber.

[Jorge]

http://lib.bioinfo.pl/auth:Lindblad-Toh,K