In other species: domestic cat , horse

Categories: Integument (skin) phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 608245 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Disease-related: 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.

Breeds: Bichon Frise (Dog) (VBO_0200163), Chesapeake Bay Retriever (Dog) (VBO_0200326), Curly Coated Retriever (Dog) (VBO_0200397), Irish Terrier (Dog) (VBO_0200704), Lagotto Romagnolo (Dog) (VBO_0200804), Portuguese Water Dog (Dog) (VBO_0201077), Spanish Water Dog (Dog) (VBO_0201280).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: