Mutation of Large,which encodes a putative glycosyltransferase,in an animal model of muscular dystrophy |
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| Institution: | 1. Joint International Research Laboratory of Glycobiology and Medicinal Chemistry, College of Life Sciences, Northwest University, Xi''an, China;2. Department of Oncology, the Fifth People''s Hospital of Qinghai Province, Xining, China;3. The Key Laboratory of Carbohydrate Chemistry and Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, Wuxi, China;4. Department of Hematology, Provincial People''s Hospital, Xi''an, China;5. Wuxi School of Medicine, Jiangnan University, Wuxi, China |
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| Abstract: | The myodystrophy (myd) mutation arose spontaneously and has an autosomal recessive mode of inheritance. Homozygous mutant mice display a severe, progressive muscular dystrophy. Using a positional cloning approach, we identified the causative mutation in myd as a deletion within the Large gene, which encodes a putative glycosyltransferase with two predicted catalytic domains. By immunoblotting, the α-subunit of dystroglycan, a key muscle membrane protein, is abnormal in myd mice. This aberrant protein might represent altered glycosylation of the protein and contribute to the muscular dystrophy phenotype. Our results are discussed in the light of recent reports describing mutations in other glycosyltransferase genes in several forms of human muscular dystrophy. |
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