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

Bing Zhi Yang, Jia Huan Ding, Jan J. Enghild, Yong Bao, Yuan Tseng Chen

Research output: Contribution to journalArticle

67 Citations (Scopus)

Abstract

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 3́-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 (∼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.

Original languageEnglish
Pages (from-to)9294-9299
Number of pages6
JournalJournal of Biological Chemistry
Volume267
Issue number13
StatePublished - May 5 1992
Externally publishedYes

Fingerprint

Glycogen Debranching Enzyme System
Cloning
Molecular Cloning
Muscle
Nucleotides
Complementary DNA
Glycogen Storage Disease Type III
Muscles
Swine
Glycogen
Base Pairing
Messenger RNA
Amino Acid Sequence
Multifunctional Enzymes
RNA
Amino Acids
Peptides
Proteins
Muscle Proteins
Molecular mass

ASJC Scopus subject areas

  • Biochemistry

Cite this

Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme. / Yang, Bing Zhi; Ding, Jia Huan; Enghild, Jan J.; Bao, Yong; Chen, Yuan Tseng.

In: Journal of Biological Chemistry, Vol. 267, No. 13, 05.05.1992, p. 9294-9299.

Research output: Contribution to journalArticle

Yang, Bing Zhi ; Ding, Jia Huan ; Enghild, Jan J. ; Bao, Yong ; Chen, Yuan Tseng. / Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme. In: Journal of Biological Chemistry. 1992 ; Vol. 267, No. 13. pp. 9294-9299.
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