{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T01:18:13Z","timestamp":1772759893084,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,7,24]],"date-time":"2017-07-24T00:00:00Z","timestamp":1500854400000},"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":["31003A_149313"],"award-info":[{"award-number":["31003A_149313"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Oculocutaneous albinism type 4 (<jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>4) in humans and similar phenotypes in many animal species are caused by variants in the <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>45A2<\/jats:italic> gene, encoding a putative sugar transporter. In dog, two independent <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>45A2<\/jats:italic> variants are known that cause oculocutaneous albinism in Doberman Pinschers and several small dog breeds respectively. For the present study, we investigated a Bullmastiff with oculocutaneous albinism. The affected dog was highly inbred and resulted from the mating of a sire to its own grandmother. We obtained whole genome sequence data from the affected dog and searched specifically for variants in candidate genes known to cause albinism. We detected a single base deletion in exon 6 of the <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>45A2<\/jats:italic> gene (<jats:styled-content style=\"fixed-case\">NM<\/jats:styled-content>_001037947.1:c.1287delC) that has not been reported thus far. This deletion is predicted to result in an early premature stop codon. It was confirmed by Sanger sequencing and perfectly co\u2010segregated with the phenotype in the available family members. We genotyped 174 unrelated dogs from diverse breeds, all of which were homozygous wildtype. We therefore suggest that <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>45A2:<\/jats:italic>c.1287delC causes the observed oculocutaneous albinism in the affected Bullmastiff.<\/jats:p>","DOI":"10.1111\/age.12582","type":"journal-article","created":{"date-parts":[[2017,7,24]],"date-time":"2017-07-24T10:36:43Z","timestamp":1500892603000},"page":"619-621","source":"Crossref","is-referenced-by-count":19,"title":["A single base deletion in the <i><scp>SLC<\/scp>45A2<\/i> gene in a Bullmastiff with oculocutaneous albinism"],"prefix":"10.1111","volume":"48","author":[{"given":"M.","family":"Caduff","sequence":"first","affiliation":[{"name":"Institute of Genetics Vetsuisse Faculty University of Bern 3001 Bern Switzerland"},{"name":"DermFocus University of Bern 3001 Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Bauer","sequence":"additional","affiliation":[{"name":"Institute of Genetics Vetsuisse Faculty University of Bern 3001 Bern Switzerland"},{"name":"DermFocus University of Bern 3001 Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Jagannathan","sequence":"additional","affiliation":[{"name":"Institute of Genetics Vetsuisse Faculty University of Bern 3001 Bern Switzerland"},{"name":"DermFocus University of Bern 3001 Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"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 3001 Bern Switzerland"},{"name":"DermFocus University of Bern 3001 Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,7,24]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0168-9525(96)10031-7"},{"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":"10.1242\/jcs.00598"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12053"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng584"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-43"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.106.063107"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1297-9686-35-1-119"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12167"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/324340"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-14-363"},{"key":"e_1_2_3_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/jhered\/esm018"},{"key":"e_1_2_3_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/jhered\/esv008"},{"key":"e_1_2_3_15_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0092127"},{"key":"e_1_2_3_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2013.04.054"}],"container-title":["Animal Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fage.12582","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/age.12582","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,18]],"date-time":"2023-09-18T12:37:45Z","timestamp":1695040665000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/age.12582"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7,24]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2017,10]]}},"alternative-id":["10.1111\/age.12582"],"URL":"https:\/\/doi.org\/10.1111\/age.12582","archive":["Portico"],"relation":{},"ISSN":["0268-9146","1365-2052"],"issn-type":[{"value":"0268-9146","type":"print"},{"value":"1365-2052","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,7,24]]}}}