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

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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.

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  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: leif.andersson@imbim.uu.se

Correspondence to: G|[ouml]|ran Andersson1 e-mail: goran.andersson@hgen.slu.se



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