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Cited by 45Glycogen Storage Diseases and MyoclonusMetabolism, Diabetes, and CancerGenetic Associations and Epidemiology

Isolation and Characterization of the Human Muscle Glycogen Synthase Gene

Orho, Marju, Nikula-Ijäs, Pirjo, Schalin-Jäntti, Camilla, Permutt, M Alan, Groop, Leif C·1995·Diabetes
DOI 10.2337/diab.44.9.1099
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Abstract

Impaired glycogen synthase (GS) activity in skeletal muscle has been considered to be an inherited trait in patients with non-insulin-dependent diabetes mellitus (NIDDM). We therefore isolated the human muscle GS gene from genomic libraries and determined the genomic structure. The entire coding region, the 5′-flanking region, and the exon-intron boundaries were sequenced. The gene consists of 16 exons spanning ∼27 kb of DNA and exists as a single copy in the human genome. The negatively charged parts with all known phosphorylation sites were coded by the first andthe last exon. A single transcription initiation site was located 167 nucleotides upstream of the initiation codon. All of the exons and the putative promoter region were analyzed by single-strandconformation polymorphism in 30 insulin-resistant Finnish NIDDM patients, and three polymorphic sites were found. A missense mutation Gly464/Ser in exon 11 was found in 2 of 228 NIDDM patients screened but in 0 of 154 control subjects. These two patients were characterized further by severe insulin resistance and premature arteriosclerosis. The characterization of the genomic structure of the human muscle GS gene will facilitate studies of its role in the development of insulin resistance and NIDDM.

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  • DNA sequencing of the glycogen synthase gene has found either no mutations or rare nucleotide substitutions that cannot explain the defect in insulin-stimulated glycogen synthase activity in type 2 diabetes.

    “The glycogen synthase gene has been the subject of intensive investigation, and DNA sequencing has revealed either no mutations or rare nucleotide substitutions that cannot explain the defect in insulin-stimulated glycogen synthase activity [223–225].”

    From Pathogenesis of insulin resistance in skeletal muscle (2010) · cites this paper as [224]

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Authors
Orho, M., Nikula-Ijäs, P., Schalin-Jäntti, C., Permutt, M. A., & Groop, L. C.
Affiliations
  • University of Helsinki (FI)
  • Fourth Department of Medicine, University of Helsinki Helsinki, Finland
  • Washington University in St. Louis (US)
  • Lund University (SE)
ORCID
Groop, Leif C
Venue
Diabetes
Publisher
American Diabetes Association
Published
1995-09-01
Volume
44
Issue
9
Pages
1099-1105
ISSN
  • 0012-1797 (ISSN-L)
  • 1939-327X
DOI
10.2337/diab.44.9.1099
OpenAlex
W2170333076
Cited by
45
References
0
Citations by year
2026: 1 · 2019: 1 · 2018: 2 · 2016: 1 · 2015: 1 · 2014: 1
FWCI
3.55
Type
journal article
Language
en
Open access
closed
Locations
  • Diabetes (publishedVersion)
  • PubMed (publishedVersion)
Funders
National Institute of Diabetes and Digestive and Kidney Diseases (R01 DK16746, R01DK016746)
Topics
  • Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Metabolism, Diabetes, and Cancer
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords
glycogen synthase, skeletal muscle, type 2 diabetes, insulin resistance, gene structure, exon-intron organization, promoter, phosphorylation sites, missense mutations, arteriosclerosis, Finnish patients
MeSH terms
Adult, Amino Acid Sequence, Animals, Base Sequence, Diabetes Mellitus, Type 2, DNA, Exons, Female, Finland, Glycine, Glycogen Synthase, Humans, Insulin Resistance, Introns, Middle Aged, Molecular Sequence Data, Reference Values, Polymorphism, Restriction Fragment Length, Sequence Homology, Nucleic Acid, Serine, Transcription, Genetic, Restriction Mapping, Hominidae, Deoxyribonucleases, Type II Site-Specific, Polymerase Chain Reaction, Point Mutation, DNA Primers, Muscle, Skeletal

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