Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs.
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.
Salmon Hillbertz
Nicolette H C
NH
Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences (SLU), Biomedical Centre, Box 597, SE-751 24 Uppsala, Sweden.
Isaksson
Magnus
M
Karlsson
Elinor K
EK
Hellmén
Eva
E
Pielberg
Gerli Rosengren
GR
Savolainen
Peter
P
Wade
Claire M
CM
von Euler
Henrik
H
Gustafson
Ulla
U
Hedhammar
Ake
A
Nilsson
Mats
M
Lindblad-Toh
Kerstin
K
Andersson
Leif
L
Andersson
Göran
G
D000818:Animals; D003884:Dermoid Cyst / Q000235:genetics / Q000662:veterinary*; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D005260:Female; D051518:Fibroblast Growth Factor 3 / Q000235:genetics; D051519:Fibroblast Growth Factor 4 / Q000235:genetics; D005346:Fibroblast Growth Factors / Q000235:genetics*; D020440:Gene Duplication; D020022:Genetic Predisposition to Disease; D005838:Genotype; D008297:Male; D009363:Neoplasm Proteins / Q000235:genetics; D010641:Phenotype; D012868:Skin Abnormalities / Q000235:genetics* / Q000473:pathology; D016136:Spina Bifida Occulta / Q000235:genetics / Q000662:veterinary*
D051518:Fibroblast Growth Factor 3; D051519:Fibroblast Growth Factor 4; D009363:Neoplasm Proteins; D005346:Fibroblast Growth Factors