Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA

Identification of multiple tissue-specific isoforms

Yong Bao, Bing Zhi Yang, Thomas L. Dawson, Yuan Tsong Chen

Research output: Contribution to journalArticle

34 Citations (Scopus)

Abstract

Glycogen storage disease type III (GSD-III) is caused by a deficiency of glycogen debranching enzyme (AGL) activity. Patients are found to have deficient AGL activity in both muscle and liver, and also enzyme deficiency in the liver, but not in muscle. To determine the molecular basis of enzymatic variability in GSD-III and to elucidate the mechanism for control of tissue-specific expression of AGL, we previously cloned and sequenced the human muscle AGL cDNA. Here we report the isolation and nucleotide sequence of liver AGL cDNA and the tissue distribution of the isoform mRNAs. The predominant form of human liver AGL cDNA (isoform 1) contained 400 bp of 5' untranslated region, 4596 bp of coding region, and 2371 bp of 3' untranslated region. The liver AGL mRNA sequence was identical to the previously published muscle sequence (isoform 5) for most of the length, except for the 5' end, in which the liver sequence diverged completely from the muscle sequence. The divergence began with the transcription start point and extended 82 nucleotides downstream from the translation initiation codon. Six isoforms of AGL mRNA were identified and sequenced from liver and muscle. These isoforms differed only at the 5' end. Tissue distribution studies showed that liver, kidney and lymphoblastoid cells expressed predominantly isoform 1; whereas muscle and heart expressed not only isoform 1, but also muscle-specific isoform mRNAs (isoforms 2, 3 and 4). Defining tissue-specific AGL isoform mRNAs is an important step toward understanding the molecular basis of enzymatic variability in GSD-III.

Original languageEnglish
Pages (from-to)389-398
Number of pages10
JournalGene
Volume197
Issue number1-2
DOIs
StatePublished - Sep 15 1997

Fingerprint

Glycogen Debranching Enzyme System
Liver Glycogen
Glycogen Storage Disease Type III
Protein Isoforms
RNA Isoforms
Messenger RNA
Liver
Muscles
Complementary DNA
Tissue Distribution
Initiator Codon
5' Untranslated Regions
3' Untranslated Regions
Myocardium
Nucleotides

Keywords

  • Alternative splicing
  • Gene expression
  • Glycogen debranching enzyme
  • Glycogen storage disease

ASJC Scopus subject areas

  • Genetics

Cite this

Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA : Identification of multiple tissue-specific isoforms. / Bao, Yong; Yang, Bing Zhi; Dawson, Thomas L.; Chen, Yuan Tsong.

In: Gene, Vol. 197, No. 1-2, 15.09.1997, p. 389-398.

Research output: Contribution to journalArticle

Bao, Yong ; Yang, Bing Zhi ; Dawson, Thomas L. ; Chen, Yuan Tsong. / Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA : Identification of multiple tissue-specific isoforms. In: Gene. 1997 ; Vol. 197, No. 1-2. pp. 389-398.
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