The Human Skeletal Muscle Glycogenin Gene: cDNA, Tissue Expression, and Chromosomal Localization

Glycogen synthesis is impaired in first degree relatives of subjects with non-insulin-dependent diabetes mellitus and genes relevant to this metabolic pathway are considered reasonable candidates in the pathogenesis of the disease. In skeletal muscle thede novosynthesis of glycogen is primed by an e...

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Bibliographic Details
Published in:Biochemical and biophysical research communications 1996-03, Vol.220 (1), p.72-77
Main Authors: Barbetti, F., Rocchi, M., Bossolasco, M., Cordera, R., Sbraccia, P., Finelli, P., Consalez, G.G.
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Animals
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 12 - genetics
Chromosomes, Human, Pair 13 - genetics
Chromosomes, Human, Pair 3 - genetics
Cloning, Molecular
Diabetes Mellitus, Type 2 - genetics
Diabetes Mellitus, Type 2 - metabolism
DNA Primers - genetics
DNA, Complementary - genetics
Glucosyltransferases
Glycogen - metabolism
Glycoproteins - genetics
Glycoproteins - metabolism
Humans
In Situ Hybridization, Fluorescence
Insulin Resistance - genetics
Molecular Sequence Data
Muscle Proteins - genetics
Muscle Proteins - metabolism
Muscle, Skeletal - metabolism
Open Reading Frames
Rabbits
Tissue Distribution
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Summary:Glycogen synthesis is impaired in first degree relatives of subjects with non-insulin-dependent diabetes mellitus and genes relevant to this metabolic pathway are considered reasonable candidates in the pathogenesis of the disease. In skeletal muscle thede novosynthesis of glycogen is primed by an enzyme named glycogenin. We have cloned the glycogenin cDNA from human skeletal muscle mRNA: human glycogenin is a 333 amino acid protein exhibiting 93% identity with rabbit glycogenin. A single transcript of about 2.4 kb, prominent in skeletal muscle, was detected by Northern blot analysis.In situhybridization unequivocally located the human glycogenin gene to chromosome 3q25.1. Furthermore, we mapped two intronless glycogenin-related sequences to human chromosomes 12 and 13.
ISSN:0006-291X
1090-2104
DOI:10.1006/bbrc.1996.0359