OMIA 000245-9615 : Curly coat in Canis lupus familiaris

In other species: 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.

In adjacent papers published online just three days apart, Bauer et al. (2019) and Salmela et al. (2019) independently reported a second likely causal variant (c.1266_1273delinsACA) in Curly Coated Retrievers, a breed with curly coats but which does not have the previously-known variant, c.451C>T.

Prevalence: Bauer et al. (2019) "found that the [c.1266_1273delinsACA] variant was fixed in a cohort of 125 Curly Coated Retrievers and segregating in five of 14 additionally tested breeds with a curly or wavy coat".

Salmela et al. (2019): "The [c.1266_1273delinsACA] variant was also found at lower frequencies in five other breeds, including Lagotto Romagnolo, Bichon Frise, Spanish Water Dog, Chesapeake Bay Retriever and Irish Terrier." These authors also reported that "One curly-coated Lagotto carried neither of the two KRT71 variants", indicating that not all the likely causal variants have yet been discovered.

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. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

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
Bichon Frise Chesapeake Bay Retriever Curly-coated retriever Irish Terrier Lagotto Romagnolo Spanish water dog Curly coat KRT71 c^2 indel, small (<=20) 27 c.1266_1273delinsACA p.Ser422ArgfsTer? Bauer et al. (2019) and Salmela et al. (2019): NM_001197029.1:c.1266_1273delinsACA; NP_001183958.1:p.Ser422ArgfsTer? 2019 30444027 30456859
Portugese water dog Curly coat KRT71 c^1 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.
2019 Bauer, A., Hadji Rasouliha, S., Brunner, M.T., Jagannathan, V., Bucher, I., Bannoehr, J., Varjonen, K., Bond, R., Bergvall, K., Welle, M.M., Roosje, P., Leeb, T. :
A second KRT71 allele in curly coated dogs. Anim Genet 50:97-100, 2019. Pubmed reference: 30444027. DOI: 10.1111/age.12743.
Salmela, E., Niskanen, J., Arumilli, M., Donner, J., Lohi, H., Hytönen, M.K., Salmela, E., Niskanen, J., Arumilli, M., Donner, J., Lohi, H., Hytönen, M.K., Salmela, E., Niskanen, J., Arumilli, M., Donner, J., Lohi, H., Hytönen, M.K. :
A novel KRT71 variant in curly-coated dogs. Anim Genet 50:101-104, 2019. Pubmed reference: 30456859. DOI: 10.1111/age.12746.
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
  • Changed by Frank Nicholas on 16 Mar 2019