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Your search keyword '"Golovko, Anna"' showing total 2 results
Start Over Author "Golovko, Anna" Journal nature genetics
2 results on '"Golovko, Anna"'

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

Author

Rosengren Pielberg, Gerli, primary, Golovko, Anna, additional, Sundström, Elisabeth, additional, Curik, Ino, additional, Lennartsson, Johan, additional, Seltenhammer, Monika H, additional, Druml, Thomas, additional, Binns, Matthew, additional, Fitzsimmons, Carolyn, additional, Lindgren, Gabriella, additional, Sandberg, Kaj, additional, Baumung, Roswitha, additional, Vetterlein, Monika, additional, Strömberg, Sara, additional, Grabherr, Manfred, additional, Wade, Claire, additional, Lindblad-Toh, Kerstin, additional, Pontén, Fredrik, additional, Heldin, Carl-Henrik, additional, Sölkner, Johann, additional, and Andersson, Leif, additional

Published
2008
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2. A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse.

Author

Pielberg, Gerli Rosengren, 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, and Sölkner, Johann

Subjects
*ANIMAL genetics research, *MELANOMA, *HORSE diseases, *PIGMENTATION disorders, *NEUROENDOCRINE tumors, *PHENOTYPES, *GENETICS, *CANCER risk factors
Abstract

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. [ABSTRACT FROM AUTHOR]

Published
2008
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