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

Nat Genet. 2007 Nov;39(11):1318-20. doi: 10.1038/ng.2007.4. Epub 2007 Sep 30.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Dermoid Cyst / genetics
  • Dermoid Cyst / veterinary*
  • Dog Diseases / genetics*
  • Dogs
  • Female
  • Fibroblast Growth Factor 3 / genetics
  • Fibroblast Growth Factor 4 / genetics
  • Fibroblast Growth Factors / genetics*
  • Gene Duplication*
  • Genetic Predisposition to Disease*
  • Genotype
  • Male
  • Neoplasm Proteins / genetics
  • Phenotype
  • Skin Abnormalities / genetics*
  • Skin Abnormalities / pathology
  • Spina Bifida Occulta / genetics
  • Spina Bifida Occulta / veterinary*

Substances

  • Fibroblast Growth Factor 3
  • Fibroblast Growth Factor 4
  • Neoplasm Proteins
  • Fibroblast Growth Factors