{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T10:30:01Z","timestamp":1759228201001},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,4,26]],"date-time":"2017-04-26T00:00:00Z","timestamp":1493164800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Aust Veterinary J"],"published-print":{"date-parts":[[2017,5]]},"abstract":"Objective<\/jats:title>To determine whether known loss\u2010of\u2010function alleles of the acidic \u03b1\u2010glucosidase gene (GAA<\/jats:italic>) are present in the Droughtmaster breed and, if so, whether the clinical signs and pathology of generalised glycogenosis (Pompe's disease) previously reported in other affected cattle are also seen in homozygous Droughtmasters.<\/jats:p><\/jats:sec>Design<\/jats:title>Existing genomic and other diagnostic tests developed for generalised glycogenosis in cattle were used to test for the presence of the three known loss\u2010of\u2010function alleles of \nGAA<\/jats:styled-content>\n<\/jats:italic> in a herd of Droughtmaster cattle. Two calves with clinical signs of generalised glycogenosis were submitted for necropsy.<\/jats:p><\/jats:sec>Results<\/jats:title>One loss\u2010of\u2010function \nGAA<\/jats:styled-content>\n<\/jats:italic> mutation (1057\u0394TA<\/jats:styled-content> or E7<\/jats:styled-content> allele) was identified using SNP<\/jats:styled-content> chip technology and confirmed using conventional diagnostic DNA<\/jats:styled-content> tests. Further testing demonstrated that the mutation was common within this herd and that two ill\u2010thrift calves were homozygous for the E7<\/jats:styled-content> allele. Parentage analysis confirmed both sire and dam as heterozygous carriers. Pathology consistent with generalised glycogenosis was found in the skeletal and cardiac muscle and spinal cord of both of the affected calves. The 1783C<\/jats:styled-content>>T (E13<\/jats:styled-content>) or 2454\u0394CA<\/jats:styled-content> (E18<\/jats:styled-content>) mutations associated with generalised glycogenosis in the Brahman and Shorthorn breeds, respectively, were not detected.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>The lethal mutation 1057\u0394TA<\/jats:styled-content> of \nGAA<\/jats:styled-content>\n<\/jats:italic> is present in the Droughtmaster breed, with pathology identical to that reported in pure Brahman animals. Droughtmaster breeders should take action to prevent any increase in the prevalence of this lethal allele in the breed as it could cause both welfare issues and production losses if ignored.<\/jats:p><\/jats:sec>","DOI":"10.1111\/avj.12575","type":"journal-article","created":{"date-parts":[[2017,4,26]],"date-time":"2017-04-26T08:16:49Z","timestamp":1493194609000},"page":"138-142","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["E7<\/scp> (1057\u0394TA<\/scp>) mutation of the acidic \u03b1\u2010glucosidase gene causes Pompe's disease in Droughtmaster cattle"],"prefix":"10.1111","volume":"95","author":[{"given":"RE","family":"Lyons","sequence":"first","affiliation":[{"name":"The University of Queensland School of Veterinary Science Gatton Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"DJ","family":"Johnston","sequence":"additional","affiliation":[{"name":"Animal Genetics and Breeding Unit University of New England Armidale NSW Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"MR","family":"McGowan","sequence":"additional","affiliation":[{"name":"The University of Queensland School of Veterinary Science Gatton Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Laing","sequence":"additional","affiliation":[{"name":"Animal Science Department of Agriculture and Fisheries Ayr QLD Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Robinson","sequence":"additional","affiliation":[{"name":"Biosecurity Queensland Department of Agriculture and Fisheries Mackay QLD Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Owen","sequence":"additional","affiliation":[{"name":"The University of Queensland School of Veterinary Science Gatton Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"BD","family":"Hill","sequence":"additional","affiliation":[{"name":"Biosecurity Sciences Laboratory Department of Agriculture and Fisheries Brisbane QLD Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"BM","family":"Burns","sequence":"additional","affiliation":[{"name":"The University of Queensland, Centre for Animal Science Queensland Alliance for Agriculture and Food Innovation Rockhampton QLD Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,4,26]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20745"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1751-0813.2002.tb10845.x"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1751-0813.2001.tb10897.x"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.96"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13127"},{"key":"e_1_2_8_7_1","article-title":"The effective management of deleterious genetic conditions of cattle","volume":"131","author":"Teseling CF","year":"2011","journal-title":"Proc Assoc Adv Anim Breed Genet"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00253-006-0675-0"},{"key":"e_1_2_8_9_1","unstructured":"International Society of Animal Genetics. 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