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

Nature Genetics volume 39, pages 1318–1320 (2007)Cite this article

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.

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Figure 1: Phenotypes of Rhodesian and Thai Ridgeback dogs.
Figure 2: Duplication in Ridgeback dogs.

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Acknowledgements

We thank C. Knudsen for access to dorsal skin samples from Rhodesian Ridgebacks, L. Gaffney for help with illustrations, D. Wright for statistical analysis, L. Spångberg for technical assistance and the Broad Institute of MIT and Harvard Genetic analysis Platform for SNP array genotyping. The work was supported by the Foundation for Strategic Research, the Swedish Research Council for Environment, Agricultural Sciences and Spatial Planning, the Swedish Research Council, the Swedish Kennel Club, the Thure F and Karin Forsbergs Foundation, the American Kennel Club/Canine Health Foundation (grant 373) and EU FP6 IP MolTools.

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Authors and Affiliations

  1. Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences (SLU), Biomedical Centre, Box 597, Uppsala, SE-751 24, Sweden

    Nicolette H C Salmon Hillbertz, Ulla Gustafson, Leif Andersson & Göran Andersson

  2. Department of Genetics and Pathology, The Rudbeck Laboratory, Uppsala University, Uppsala, SE-751 85, Sweden

    Magnus Isaksson, Eva Hellmén & Mats Nilsson

  3. Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, 02142, Massachusetts, USA

    Elinor K Karlsson, Claire M Wade & Kerstin Lindblad-Toh

  4. Bioinformatics Program, Boston University, 44 Cummington Street, Boston, 02215, Massachusetts, USA

    Elinor K Karlsson

  5. Department of Anatomy, Physiology and Biochemistry, SLU, Box 7011, Uppsala, SE-750 07, Sweden

    Eva Hellmén

  6. Department of Medical Biochemistry and Microbiology, Uppsala University, Box 597, Uppsala, SE-751 24, Sweden

    Gerli Rosengren Pielberg, Kerstin Lindblad-Toh & Leif Andersson

  7. School of Biotechnology, Royal Institute of Technology, AlbaNova University Center, Stockholm, SE-106 91, Sweden

    Peter Savolainen

  8. Center for Human Genetic Research, Massachusetts General Hospital, Boston, 02114, Massachusetts, USA

    Claire M Wade

  9. Department of Clinical Sciences, SLU, Box 7054, Uppsala, SE-750 07, Sweden

    Henrik von Euler & Åke Hedhammar

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  1. Nicolette H C Salmon Hillbertz
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  2. Magnus Isaksson
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Contributions

N.H.C.S.H. was responsible for collection of field material, histopathological confirmation of dermoid sinus and autopsies together with E.H., phenotypic characterization of the field material, break-point analyses together with M.I., and real-time PCR analyses; M.I. and M.N. were responsible for the MLGA analyses; E.K.K. carried out the SNP association and bioinformatics analyses; E.H. carried out the histological analyses; G.R.P. did pyrosequencing, P.S. carried out the sequencing of mitochondrial DNA and performed phylogenetic analyses; C.M.W. contributed to the SNP screen, H.v.E. took part in the collection of tissue samples; U.G. provided technical assistance; Å.H. provided advice for the clinical part of the study; K.L.-T., L.A. and G.A. co-directed the study; and N.H.C.S.H., L.A., G.A., and K.L.-T. were responsible for preparation of the manuscript with input from the other authors.

Corresponding authors

Correspondence to Leif Andersson or Göran Andersson.

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Competing interests

A patent application concerning commercial testing for the presence of the Ridge mutation in dogs has been filed. N.H.C.S.-H., G.A., L.A., K.L.-T., M.N. and M.I. are listed as inventors on a provisional application to the US Patent Office (no. 60/928240) related to this work.

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Supplementary Methods, Note, Tables 1–3, Figures 1–3 (PDF 484 kb)

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Salmon Hillbertz, N., Isaksson, M., Karlsson, E. et al. Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs. Nat Genet 39, 1318–1320 (2007). https://doi.org/10.1038/ng.2007.4

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