Published in
Nature Research, Nature Genetics, 11(39), p. 1318-1320, 2007
DOI: 10.1038/ng.2007.4
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Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs
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Eva Hellmén,
Gerli Rosengren Pielberg,
Peter Savolainen,
Claire M. Wade ,
Henrik von Euler,
Ulla Gustafson,
Åke Hedhammar,
Mats Nilsson,
Kerstin Lindblad-Toh,
Leif Andersson,
Göran Andersson
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Abstract
The dorsal hair ridge in Rhodesian and Thai Ridgeback dogs is caused by a dominant mutation that also predisposes to the congenital developmental disorder dermoid sinus. Here we show that the causative mutation is a 133-kb duplication involving three fibroblast growth factor (FGF) genes. FGFs play a crucial role in development, suggesting that the ridge and dermoid sinus are caused by dysregulation of one or more of the three FGF genes during development.