|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
4
|
|
pubmed:dateCreated |
2005-9-7
|
|
pubmed:abstractText |
GM(1)-gangliosidosis is a lysosomal storage disease that is inherited as an autosomal recessive disorder, predominantly caused by structural defects in the beta-galactosidase gene (GLB1). The molecular cause of GM(1)-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-+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 G(M1)-gangliosidosis occurs.
|
|
pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/15944348-10022858,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15944348-10737981,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15944348-10744681,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15944348-11032334,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15944348-11355658,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15944348-11591656,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15944348-12228232,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15944348-12555949,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15944348-12600935,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15944348-12626338,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15944348-12655015,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15944348-12824367,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15944348-1427786,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15944348-15340491,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15944348-6812049,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15944348-7852296,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15944348-8213816,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15944348-9199345,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15944348-9649504,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15944348-9700604,
http://linkedlifedata.com/resource/pubmed/commentcorrection/15944348-9878239
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Aug
|
|
pubmed:issn |
0016-6731
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
170
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
1857-61
|
|
pubmed:dateRevised |
2009-11-18
|
|
pubmed:meshHeading |
pubmed-meshheading:15944348-Alleles,
pubmed-meshheading:15944348-Animals,
pubmed-meshheading:15944348-Base Sequence,
pubmed-meshheading:15944348-Dogs,
pubmed-meshheading:15944348-Exons,
pubmed-meshheading:15944348-Gangliosidosis, GM1,
pubmed-meshheading:15944348-Genes, Duplicate,
pubmed-meshheading:15944348-RNA, Messenger,
pubmed-meshheading:15944348-beta-Galactosidase
|
|
pubmed:year |
2005
|
|
pubmed:articleTitle |
A duplication in the canine beta-galactosidase gene GLB1 causes exon skipping and GM1-gangliosidosis in Alaskan huskies.
|
|
pubmed:affiliation |
Department for Pathology, University of Veterinary Medicine, 30559 Hannover, Germany.
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
