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Previous studies have revealed allelic heterogeneity at the<jats:italic>polled<\/jats:italic>locus and four different variants were identified, all in intergenic regions. In this study, we report a case of polled bull (FV-Polled1) born to horned parents, indicating a de novo origin of this polled condition. Using 50K genotyping and whole genome sequencing data, we identified on chromosome 2 an 11-bp deletion (AC_000159.1:g.52364063_52364073del;<jats:italic>Del11<\/jats:italic>) in the second exon of<jats:italic>ZEB2<\/jats:italic>gene as the causal mutation for this de novo polled condition. We predicted that the deletion would shorten the protein product of<jats:italic>ZEB2<\/jats:italic>by almost 91%. Moreover, we showed that all animals carrying<jats:italic>Del11<\/jats:italic>mutation displayed symptoms similar to Mowat-Wilson syndrome (MWS) in humans, which is also associated with genetic variations in<jats:italic>ZEB2<\/jats:italic>. The symptoms in cattle include delayed maturity, small body stature and abnormal shape of skull. This is the first report of a de novo dominant mutation affecting only<jats:italic>ZEB2<\/jats:italic>and associated with a genetic absence of horns. Therefore our results demonstrate undoubtedly that<jats:italic>ZEB2<\/jats:italic>plays an important role in the process of horn ontogenesis as well as in the regulation of overall development and growth of animals.<\/jats:p>","DOI":"10.1038\/s41598-020-73807-5","type":"journal-article","created":{"date-parts":[[2020,10,12]],"date-time":"2020-10-12T10:02:42Z","timestamp":1602496962000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["A de novo frameshift mutation in ZEB2 causes polledness, abnormal skull shape, small body stature and subfertility in Fleckvieh cattle"],"prefix":"10.1038","volume":"10","author":[{"given":"Lilian J.","family":"Gehrke","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maulik","family":"Upadhyay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin","family":"Heidrich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Kunz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Klaus-Halla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Weber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holm","family":"Zerbe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doris","family":"Seichter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Graf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Krebs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helmut","family":"Blum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aur\u00e9lien","family":"Capitan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg","family":"Thaller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivica","family":"Medugorac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,10,12]]},"reference":[{"key":"73807_CR1","first-page":"434","volume":"5","author":"K Bp","year":"2014","unstructured":"Bp, K., Dl, R. & Ke, H. 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