Sundström, Elisabeth
- Institutionen för husdjurens biovetenskaper, Sveriges lantbruksuniversitet
Forskningsartikel2008Vetenskapligt granskad
Pielberg, Gerli Rosengren; Golovko, Anna; Sundstrom, Elisabeth; Curik, Ino; Lennartsson, Johan; Seltenhammer, Monika H.; Druml, Thomas; Binns, Matthew; Fitzsimmons, Carolyn; Lindgren, Gabriella; Sandberg, Kaj; Baumung, Roswitha; Vetterlein, Monika; Stromberg, Sara; Grabherr, Manfred; Wade, Claire; Lindblad-Toh, Kerstin; Ponten, Fredrik; Heldin, Carl-Henrik; Soelkner, Johann;
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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.
Nature Genetics
2008, Volym: 40, nummer: 8, sidor: 1004-1009
Utgivare: NATURE PUBLISHING GROUP
Husdjursvetenskap
Veterinärmedicin
DOI: https://doi.org/10.1038/ng.185
https://res.slu.se/id/publ/19755