{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T05:27:07Z","timestamp":1782451627974,"version":"3.54.5"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,9,9]],"date-time":"2014-09-09T00:00:00Z","timestamp":1410220800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Mutations in <jats:italic><jats:styled-content style=\"fixed-case\">MITF<\/jats:styled-content><\/jats:italic> lead to a large variety of phenotypes in human, mice and other species. They mostly affect pigmentation and hearing, whereas in mice, they may additionally cause microphthalmia and osteopetrosis. In this study, we report a single case of a Holstein calf with lack of pigmentation and microphthalmia born to healthy parents. Mendelian analysis of high\u2010density <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content> genotypes reveals a large number of parentage errors showing missing paternal alleles in the offspring, indicating a deletion encompassing 19\u00a0Mb on <jats:styled-content style=\"fixed-case\">BTA<\/jats:styled-content> 22. The genomic deletion affects the paternal allele and includes <jats:italic><jats:styled-content style=\"fixed-case\">MITF<\/jats:styled-content><\/jats:italic> and 131 other annotated genes. As the calf shows only one copy of the <jats:styled-content style=\"fixed-case\">BTA<\/jats:styled-content>\u00a022 segment, the observed phenotype is probably caused by haploinsufficiency of the genes in that genomic region. Both the observed lack of skin pigmentation and reduced eye size can most likely be explained by a lack of <jats:italic><jats:styled-content style=\"fixed-case\">MITF<\/jats:styled-content><\/jats:italic> function.<\/jats:p>","DOI":"10.1111\/age.12213","type":"journal-article","created":{"date-parts":[[2014,9,9]],"date-time":"2014-09-09T04:36:14Z","timestamp":1410237374000},"page":"868-870","source":"Crossref","is-referenced-by-count":9,"title":["A 19\u2010Mb <i>de novo<\/i> deletion on <scp>BTA<\/scp>\u00a022 including <i><scp>MITF<\/scp><\/i> leads to microphthalmia and the absence of pigmentation in a Holstein calf"],"prefix":"10.1111","volume":"45","author":[{"given":"Natalie","family":"Wiedemar","sequence":"first","affiliation":[{"name":"Institute of Genetics Vetsuisse Faculty University of Bern Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cord","family":"Dr\u00f6gem\u00fcller","sequence":"additional","affiliation":[{"name":"Institute of Genetics Vetsuisse Faculty University of Bern Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,9,9]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2052.2011.02242.x"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002653"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.10"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.234"},{"key":"e_1_2_3_6_1","first-page":"76","article-title":"Analyses of loss\u2010of\u2010function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A","volume":"59","author":"Nobukuni Y.","year":"1996","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0028857"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21211"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004148"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.8.656"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31627"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.6.446"},{"key":"e_1_2_3_13_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genet.38.072902.092717"},{"key":"e_1_2_3_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0996-50"},{"key":"e_1_2_3_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-148X.2008.00506.x"},{"key":"e_1_2_3_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2012.10.006"}],"container-title":["Animal Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fage.12213","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/age.12213","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T04:19:15Z","timestamp":1696479555000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/age.12213"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9,9]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["10.1111\/age.12213"],"URL":"https:\/\/doi.org\/10.1111\/age.12213","archive":["Portico"],"relation":{},"ISSN":["0268-9146","1365-2052"],"issn-type":[{"value":"0268-9146","type":"print"},{"value":"1365-2052","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9,9]]}}}