OMIA 000245-9615 : Curly coat in Canis lupus familiaris
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_051831.1 (2535235..2543509)||KRT71||Homologene, Ensembl, NCBI gene|
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||delins, 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|
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.|
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