{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T11:31:53Z","timestamp":1779363113218,"version":"3.51.4"},"reference-count":33,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Bovine familial convulsions and ataxia (BFCA) is considered an autosomal dominant syndrome with incomplete penetrance. Nine Angus calves from the same herd were diagnosed with BFCA within days of birth. Necropsy revealed cerebellar and spinal cord lesions associated with the condition. Parentage testing confirmed that all affected calves had a common sire. The sire was then bred to 36 cows across two herds using artificial insemination, producing an additional 14 affected calves. The objective of this investigation was to identify hypothesized dominant genetic variation underlying the condition. Whole\u2010genome sequencing was performed on the sire, six affected and seven unaffected paternal half\u2010sibling calves and combined with data from 135 unrelated controls. The sire and five of the six affected calves were heterozygous for a nonsense variant (Chr7 g.12367906C&gt;T, c.5073C&gt;T, p.Arg1681*) in <jats:italic>CACNA1A.<\/jats:italic> The other affected calves (<jats:italic>N<\/jats:italic>\u2009=\u20098) were heterozygous for the variant but it was absent in the other unaffected calves (<jats:italic>N<\/jats:italic>\u2009=\u20097) and parents of the sire. This variant was also absent in sequence data from over 6500 other cattle obtained via public repositories and collaborator projects. The variant in <jats:italic>CACNA1A<\/jats:italic> is expressed in the cerebellum of the ataxic calves as detected in the transcriptome and was not differentially expressed compared with controls. The CACNA1A protein is part of a highly expressed cerebellar calcium voltage gated channel. The nonsense variant is proposed to cause haploinsufficiency, preventing proper transmission of neuronal signals through the channel and resulting in BFCA.<\/jats:p>","DOI":"10.1111\/age.13409","type":"journal-article","created":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T11:55:56Z","timestamp":1709294156000},"page":"344-351","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A <i>de novo<\/i> mutation in <i>CACNA1A<\/i> is associated with autosomal dominant bovine familial convulsions and ataxia in Angus cattle"],"prefix":"10.1111","volume":"55","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-6203-3110","authenticated-orcid":false,"given":"Rachel R.","family":"Reith","sequence":"first","affiliation":[{"name":"Department of Animal Science University of Nebraska \u2013 Lincoln  Lincoln Nebraska USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan E.","family":"Beever","sequence":"additional","affiliation":[{"name":"Department of Animal Science University of Tennessee Institute of Agriculture  Knoxville Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joe C.","family":"Paschal","sequence":"additional","affiliation":[{"name":"Texas A&amp;M AgriLife Extension Texas A&amp;M University  College Station Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jason","family":"Banta","sequence":"additional","affiliation":[{"name":"Texas A&amp;M AgriLife Extension Texas A&amp;M University  College Station Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brian F.","family":"Porter","sequence":"additional","affiliation":[{"name":"Department of Veterinary Pathobiology Texas A&amp;M University  College Station Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David J.","family":"Steffen","sequence":"additional","affiliation":[{"name":"School of Veterinary Medicine and Biomedical Sciences University of Nebraska \u2013 Lincoln  Lincoln Nebraska USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas B.","family":"Hairgrove","sequence":"additional","affiliation":[{"name":"Texas A&amp;M AgriLife Extension Texas A&amp;M University  College Station Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5438-8555","authenticated-orcid":false,"given":"Jessica L.","family":"Petersen","sequence":"additional","affiliation":[{"name":"Department of Animal Science University of Nebraska \u2013 Lincoln  Lincoln Nebraska USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,3]]},"reference":[{"key":"e_1_2_9_2_1","first-page":"60","article-title":"Familial convulsions and ataxia in Angus calves","volume":"83","author":"Barlow R.L.","year":"1968","journal-title":"Veterinary Record"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/030098588101800202"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.cellbio.16.1.521"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1177\/030098587801500212"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010017\u201014254\u20107"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2012.00035"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/gigascience\/giab008"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/mcp.M113.035600"},{"issue":"10","key":"e_1_2_9_10_1","first-page":"845","article-title":"Bovine familial convulsions and ataxia in Saskatchewan and Alberta","volume":"45","author":"Fournier D.","year":"2004","journal-title":"The Canadian Veterinary Journal"},{"key":"e_1_2_9_11_1","unstructured":"Gene Codes Ann Arbor MI USA. 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