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Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme.

Publication ,  Journal Article
Yang, BZ; Ding, JH; Enghild, JJ; Bao, Y; Chen, YT
Published in: J Biol Chem
May 5, 1992

cDNA comprising the entire length of the human muscle glycogen debranching enzyme was cloned and its nucleotide sequence determined. The debrancher mRNA includes a 4545-base pair coding region and a 2371-base pair 3'-nontranslated region. The calculated molecular mass of the debrancher protein derived from cDNA sequence is 172,614 daltons, consistent with the estimated size of purified protein (Mr 165,000 +/- 500). A partial amino acid sequence (13 internal tryptic peptides with a total of 213 residues) determined on peptides derived from purified porcine muscle debrancher protein confirmed the identity of the cDNA clone. Comparison of the amino acid sequence predicted from the human glycogen debrancher cDNA with the partial protein sequence of the porcine debrancher revealed a high degree (88%) of interspecies sequence identity. RNA blot analysis showed that debrancher mRNA in human muscle, lymphoblastoid cells, and in porcine muscle are all similar in size (approximately 7 kilobases). Two patients with inherited debrancher deficiency had a reduced level of debrancher mRNA, whereas two other patients had no detectable abnormality in RNA blots. The isolation of the debrancher cDNA and determination of its primary structure is an important step toward defining the structure-function relationship of this multifunctional enzyme and in understanding the molecular basis of the type III glycogen storage disease.

Duke Scholars

Published In

J Biol Chem

ISSN

0021-9258

Publication Date

May 5, 1992

Volume

267

Issue

13

Start / End Page

9294 / 9299

Location

United States

Related Subject Headings

  • Trypsin
  • Sequence Homology, Nucleic Acid
  • Restriction Mapping
  • RNA
  • Muscles
  • Molecular Sequence Data
  • Humans
  • Glycogen Debranching Enzyme System
  • DNA
  • Cloning, Molecular
 

Citation

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Yang, B. Z., Ding, J. H., Enghild, J. J., Bao, Y., & Chen, Y. T. (1992). Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme. J Biol Chem, 267(13), 9294–9299.
Yang, B. Z., J. H. Ding, J. J. Enghild, Y. Bao, and Y. T. Chen. “Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme.J Biol Chem 267, no. 13 (May 5, 1992): 9294–99.
Yang BZ, Ding JH, Enghild JJ, Bao Y, Chen YT. Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme. J Biol Chem. 1992 May 5;267(13):9294–9.
Yang, B. Z., et al. “Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme.J Biol Chem, vol. 267, no. 13, May 1992, pp. 9294–99.
Yang BZ, Ding JH, Enghild JJ, Bao Y, Chen YT. Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme. J Biol Chem. 1992 May 5;267(13):9294–9299.

Published In

J Biol Chem

ISSN

0021-9258

Publication Date

May 5, 1992

Volume

267

Issue

13

Start / End Page

9294 / 9299

Location

United States

Related Subject Headings

  • Trypsin
  • Sequence Homology, Nucleic Acid
  • Restriction Mapping
  • RNA
  • Muscles
  • Molecular Sequence Data
  • Humans
  • Glycogen Debranching Enzyme System
  • DNA
  • Cloning, Molecular