{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T20:44:24Z","timestamp":1789591464560,"version":"build-2803163510"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,11,15]],"date-time":"2018-11-15T00:00:00Z","timestamp":1542240000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001711","name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","doi-asserted-by":"publisher","award":["CRSII3_160738\/1"],"award-info":[{"award-number":["CRSII3_160738\/1"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Major characteristics of coat variation in dogs can be explained by variants in only a few genes. Until now, only one missense variant in the <jats:italic><jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>71<\/jats:italic> gene, p.Arg151Trp, has been reported to cause curly hair in dogs. However, this variant does not explain the curly coat in all breeds as the mutant <jats:sup>151<\/jats:sup>Trp allele, for example, is absent in Curly Coated Retrievers. We sequenced the genome of a Curly Coated Retriever at 22\u00d7 coverage and searched for variants in the <jats:italic><jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>71<\/jats:italic> gene. Only one protein\u2010changing variant was present in a homozygous state in the Curly Coated Retriever and absent or present in a heterozygous state in 221 control dogs from different dog breeds. This variant, <jats:styled-content style=\"fixed-case\">NM<\/jats:styled-content>_001197029.1:c.1266_1273delins<jats:styled-content style=\"fixed-case\">ACA<\/jats:styled-content>, was an indel variant in exon 7 that caused a frameshift and an altered and probably extended C\u2010terminus of the <jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>71 protein <jats:styled-content style=\"fixed-case\">NP<\/jats:styled-content>_001183958.1:p.(Ser422ArgfsTer?). Using Sanger sequencing, we found that the 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. <jats:italic><jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>71<\/jats:italic> variants cause curly hair in humans, mice, rats, cats and dogs. Specific <jats:italic><jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>71<\/jats:italic> variants were further shown to cause alopecia. Based on this knowledge from other species and the predicted molecular consequence of the newly identified canine <jats:italic><jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>71<\/jats:italic> variant, it is a compelling candidate causing a second curly hair allele in dogs. It might cause a slightly different coat phenotype than the previously published p.Arg151Trp variant and could potentially be associated with follicular dysplasia in dogs.<\/jats:p>","DOI":"10.1111\/age.12743","type":"journal-article","created":{"date-parts":[[2018,11,16]],"date-time":"2018-11-16T06:17:52Z","timestamp":1542349072000},"page":"97-100","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["A second <i><scp>KRT<\/scp><\/i>71 allele in curly coated dogs"],"prefix":"10.1111","volume":"50","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6765-4012","authenticated-orcid":false,"given":"A.","family":"Bauer","sequence":"first","affiliation":[{"name":"Institute of Genetics Vetsuisse Faculty University of Bern Bern 3001 Switzerland"},{"name":"Dermfocus Vetsuisse Faculty University of Bern Bern 3001 Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Hadji Rasouliha","sequence":"additional","affiliation":[{"name":"Institute of Genetics Vetsuisse Faculty University of Bern Bern 3001 Switzerland"},{"name":"Dermfocus Vetsuisse Faculty University of Bern Bern 3001 Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. T.","family":"Brunner","sequence":"additional","affiliation":[{"name":"Dermfocus Vetsuisse Faculty University of Bern Bern 3001 Switzerland"},{"name":"Institute of Animal Pathology Vetsuisse Faculty University of Bern Bern 3001 Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8155-0041","authenticated-orcid":false,"given":"V.","family":"Jagannathan","sequence":"additional","affiliation":[{"name":"Institute of Genetics Vetsuisse Faculty University of Bern Bern 3001 Switzerland"},{"name":"Dermfocus Vetsuisse Faculty University of Bern Bern 3001 Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Bucher","sequence":"additional","affiliation":[{"name":"Dermfocus Vetsuisse Faculty University of Bern Bern 3001 Switzerland"},{"name":"Division of Clinical Dermatology Department of Clinical Veterinary Medicine Vetsuisse Faculty University of Bern Bern 3001 Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Bannoehr","sequence":"additional","affiliation":[{"name":"Dermfocus Vetsuisse Faculty University of Bern Bern 3001 Switzerland"},{"name":"Division of Clinical Dermatology Department of Clinical Veterinary Medicine Vetsuisse Faculty University of Bern Bern 3001 Switzerland"},{"name":"Dermatology Department Animal Health Trust Lanwades Park, Kentford Newmarket Suffolk CB8 7UU UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Varjonen","sequence":"additional","affiliation":[{"name":"Department Clinical Sciences and Services Royal Veterinary College Hatfield AL9 7TA UK"},{"name":"Anicura Albano Animal Hospital Danderyd 18236 Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Bond","sequence":"additional","affiliation":[{"name":"Department Clinical Sciences and Services Royal Veterinary College Hatfield AL9 7TA UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Bergvall","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences Swedish University of Agricultural Sciences Box\u00a07054 Uppsala 750 07 Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4876-5112","authenticated-orcid":false,"given":"M. M.","family":"Welle","sequence":"additional","affiliation":[{"name":"Dermfocus Vetsuisse Faculty University of Bern Bern 3001 Switzerland"},{"name":"Institute of Animal Pathology Vetsuisse Faculty University of Bern Bern 3001 Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Roosje","sequence":"additional","affiliation":[{"name":"Dermfocus Vetsuisse Faculty University of Bern Bern 3001 Switzerland"},{"name":"Division of Clinical Dermatology Department of Clinical Veterinary Medicine Vetsuisse Faculty University of Bern Bern 3001 Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0553-4880","authenticated-orcid":false,"given":"T.","family":"Leeb","sequence":"additional","affiliation":[{"name":"Institute of Genetics Vetsuisse Faculty University of Bern Bern 3001 Switzerland"},{"name":"Dermfocus Vetsuisse Faculty University of Bern Bern 3001 Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,11,15]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2001.01226.x"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006651"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/jsap.12605"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1177808"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/vr.145.19.542"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-3164.2000.00180.x"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2012.154"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-010-9290-6"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep02000"},{"key":"e_1_2_3_11_1","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1093\/genetics\/165.2.721","article-title":"A small deletion hotspot in the type II keratin gene mK6irs1\/Krt2\u20106g on mouse chromosome 15, a candidate for causing the wavy hair of the caracul (Ca) mutation","volume":"165","author":"Kikkawa Y.","year":"2003","journal-title":"Genetics"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1292\/jvms.09-0554"},{"key":"e_1_2_3_13_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2002.01711.x"},{"key":"e_1_2_3_14_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2003.12491.x"},{"key":"e_1_2_3_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-006-0084-9"}],"updated-by":[{"DOI":"10.1111\/age.13098","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000}}],"container-title":["Animal Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fage.12743","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/age.12743","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T17:09:56Z","timestamp":1694711396000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/age.12743"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,11,15]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,2]]}},"alternative-id":["10.1111\/age.12743"],"URL":"https:\/\/doi.org\/10.1111\/age.12743","archive":["Portico"],"relation":{"correction":[{"id-type":"doi","id":"10.1111\/age.13098","asserted-by":"object"}]},"ISSN":["0268-9146","1365-2052"],"issn-type":[{"value":"0268-9146","type":"print"},{"value":"1365-2052","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,11,15]]},"assertion":[{"value":"2018-10-09","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-11-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}