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The molecular cause of GM1-gangliosidosis in Alaskan huskies was investigated and a novel 19-bp duplication in exon 15 of the GLB1 gene was identified. The duplication comprised positions +1688\u2013+1706 of the GLB1 cDNA. It partially disrupted a potential exon splicing enhancer (ESE), leading to exon skipping in a fraction of the transcripts. Thus, the mutation caused the expression of two different mRNAs from the mutant allele. One transcript contained the complete exon 15 with the 19-bp duplication, while the other transcript lacked exon 15. In the transcript containing exon 15 with the 19-bp duplication a premature termination codon (PTC) appeared, but due to its localization in the last exon of canine GLB1, nonsense-mediated RNA decay (NMD) did not occur. As a consequence of these molecular events two different truncated GLB1 proteins are predicted to be expressed from the mutant GLB1 allele. In heterozygous carrier animals the wild-type allele produces sufficient amounts of the active enzyme to prevent clinical signs of disease. In affected homozygous dogs no functional GLB1 is synthesized and GM1-gangliosidosis occurs.<\/jats:p>","DOI":"10.1534\/genetics.105.042580","type":"journal-article","created":{"date-parts":[[2005,6,9]],"date-time":"2005-06-09T00:33:35Z","timestamp":1118277215000},"page":"1857-1861","source":"Crossref","is-referenced-by-count":26,"title":["A Duplication in the Canine \u03b2-Galactosidase Gene <i>GLB1<\/i> Causes Exon Skipping and GM1-Gangliosidosis in Alaskan Huskies"],"prefix":"10.1093","volume":"170","author":[{"given":"Robert","family":"Kreutzer","sequence":"first","affiliation":[{"name":"Department for Pathology, University of Veterinary Medicine, 30559 Hannover, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tosso","family":"Leeb","sequence":"additional","affiliation":[{"name":"Department for Animal Breeding and Genetics, University of Veterinary Medicine, 30559 Hannover, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gundi","family":"Mu\u0308ller","sequence":"additional","affiliation":[{"name":"Department for Pathology, University of Veterinary Medicine, 30559 Hannover, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Moritz","sequence":"additional","affiliation":[{"name":"Clinic for Small Animals, Internal Medicine, Justus Liebig University, 35392 Giessen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfgang","family":"Baumga\u0308rtner","sequence":"additional","affiliation":[{"name":"Department for Pathology, University of Veterinary Medicine, 30559 Hannover, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2005,8,1]]},"reference":[{"key":"2022010712442013600_BIB1","doi-asserted-by":"crossref","first-page":"2411","DOI":"10.1074\/jbc.270.6.2411","volume":"270","year":"1995","journal-title":"J. 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