Brief Communication abstract

Nature Genetics 39, 1318 - 1320 (2007)
Published online: 30 September 2007 | doi:10.1038/ng.2007.4

Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs

Nicolette H C Salmon Hillbertz1, Magnus Isaksson2, Elinor K Karlsson3,4, Eva Hellm|[eacute]|n2,5, Gerli Rosengren Pielberg6, Peter Savolainen7, Claire M Wade3,8, Henrik von Euler9, Ulla Gustafson1, |[Aring]|ke Hedhammar9, Mats Nilsson2, Kerstin Lindblad-Toh3,6, Leif Andersson1,6 & G|[ouml]|ran Andersson1


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.

  1. Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences (SLU), Biomedical Centre, Box 597, SE-751 24 Uppsala, Sweden.
  2. Department of Genetics and Pathology, The Rudbeck Laboratory, Uppsala University, SE-751 85 Uppsala, Sweden.
  3. Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.
  4. Bioinformatics Program, Boston University, 44 Cummington Street, Boston, Massachusetts 02215, USA.
  5. Department of Anatomy, Physiology and Biochemistry, SLU, Box 7011, SE-750 07 Uppsala, Sweden.
  6. Department of Medical Biochemistry and Microbiology, Uppsala University, Box 597, SE-751 24 Uppsala, Sweden.
  7. School of Biotechnology, Royal Institute of Technology, AlbaNova University Center, SE-106 91 Stockholm, Sweden.
  8. Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
  9. Department of Clinical Sciences, SLU, Box 7054, SE-750 07 Uppsala, Sweden.

Correspondence to: Leif Andersson1,6 e-mail:

Correspondence to: G|[ouml]|ran Andersson1 e-mail:


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