OMIA 000245-9615 : Curly coat in Canis lupus familiaris

In other species: cattle , horse , domestic cat

Possibly relevant human trait(s) and/or gene(s) (MIM number): 608245

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2009

Mapping: By conducting a GWAS on 31 curly-hair and 41 wavy-hair Portugese Water dogs, each genotyped with an Affymetrix Version 2 Canine SNP chip (yielding 56,395 informative SNPs for analysis), Cadieu et al. (2009) highlighted a region on chromosome CFA27.

Molecular basis: Fine-mapping and subsequent sequencing within the candidate region on CFA27 (see Mapping section) enabled Cadieu et al. (2009) to identify the causal mutation as a missense SNP (Arg151Trp) in the KRT71 gene.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
KRT71 keratin 71, type II Canis lupus familiaris 27 NC_006609.3 (2536831..2545103) KRT71 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Portugese water dog Curly coat KRT71 missense c.451C>T p.R151W 2009 19713490

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2017 Parker, H.G., Harris, A., Dreger, D.L., Davis, B.W., Ostrander, E.A. :
The bald and the beautiful: hairlessness in domestic dog breeds. Philos Trans R Soc Lond B Biol Sci 372:, 2017. Pubmed reference: 27994129. DOI: 10.1098/rstb.2015.0488.
2012 Harel, S., Christiano, A.M. :
Keratin 71 mutations: from water dogs to woolly hair. J Invest Dermatol 132:2315-7, 2012. Pubmed reference: 22971920. DOI: 10.1038/jid.2012.291.
2009 Cadieu, E., Neff, M.W., Quignon, P., Walsh, K., Chase, K., Parker, H.G., Vonholdt, B.M., Rhue, A., Boyko, A., Byers, A., Wong, A., Mosher, D.S., Elkahloun, A.G., Spady, T.C., André, C., Lark, K.G., Cargill, M., Bustamante, C.D., Wayne, R.K., Ostrander, E.A. :
Coat variation in the domestic dog is governed by variants in three genes. Science 326:150-3, 2009. Pubmed reference: 19713490. DOI: 10.1126/science.1177808.

Edit History


  • Created by Frank Nicholas on 20 Jul 2011
  • Changed by Frank Nicholas on 10 Aug 2011
  • Changed by Frank Nicholas on 26 Sep 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 21 May 2013