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Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region.

Publication ,  Journal Article
Bao, Y; Dawson, TL; Chen, YT
Published in: Genomics
December 1, 1996

Glycogen debranching enzyme (gene symbol, AGL) is a multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation. Genetic deficiency of AGL activity causes glycogen storage disease type III (GSD-III). To determine the molecular basis of GSD-III and elucidate the mechanisms for controlling tissue-specific gene expression, we report the isolation and structural organization of the human chromosomal AGL gene. The gene is 85 kb in length and is composed of 35 exons, encoding a 7.0-kb mRNA. The first 2 exons and 68 bp of exon 3 contain 5' untranslated region. Translation begins in exon 3, which encodes the first 27 amino acids of the AGL. Exons 4 to 35 encode the remaining 1505 amino acids. Among the 6 isoforms identified, the major isoform (isoform 1) starts with exon 1 and is widely expressed, including expression in both liver and muscle. Muscle-specific isoforms (2, 3, and 4) begin with exon 2. Isoforms 5 and 6 are minor isoforms that begin further within the gene. Reporter assays revealed that promoter region 1 (for isoform 1) was functional in liver (HepG2 cells), muscle (C2C12 cells), and ovary (Chinese hamster ovary cells), and promoter region 2 (for muscle-specific isoforms) was active only in muscle. These results suggest that the human AGL gene contains at least 2 promoter regions that confer differential expression of isoform mRNAs in a tissue-specific manner.

Duke Scholars

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Published In

Genomics

DOI

ISSN

0888-7543

Publication Date

December 1, 1996

Volume

38

Issue

2

Start / End Page

155 / 165

Location

United States

Related Subject Headings

  • Transcription, Genetic
  • Sequence Analysis, DNA
  • RNA, Messenger
  • Promoter Regions, Genetic
  • Peptide Chain Initiation, Translational
  • Molecular Sequence Data
  • Mice
  • Humans
  • Glycogen Debranching Enzyme System
  • Genetics & Heredity
 

Citation

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Bao, Y., Dawson, T. L., & Chen, Y. T. (1996). Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region. Genomics, 38(2), 155–165. https://doi.org/10.1006/geno.1996.0611
Bao, Y., T. L. Dawson, and Y. T. Chen. “Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region.Genomics 38, no. 2 (December 1, 1996): 155–65. https://doi.org/10.1006/geno.1996.0611.
Bao, Y., et al. “Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region.Genomics, vol. 38, no. 2, Dec. 1996, pp. 155–65. Pubmed, doi:10.1006/geno.1996.0611.
Journal cover image

Published In

Genomics

DOI

ISSN

0888-7543

Publication Date

December 1, 1996

Volume

38

Issue

2

Start / End Page

155 / 165

Location

United States

Related Subject Headings

  • Transcription, Genetic
  • Sequence Analysis, DNA
  • RNA, Messenger
  • Promoter Regions, Genetic
  • Peptide Chain Initiation, Translational
  • Molecular Sequence Data
  • Mice
  • Humans
  • Glycogen Debranching Enzyme System
  • Genetics & Heredity