Mcardle's & hers' diseases: Glycogen phosphorylase transcriptional expression in human tissues

Fredric A Gorin, Rebecca L. Mullinax, Pamela C. Ignacio, Rachael L. Neve, David M. Kurnit

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

We have cloned the cDNA encoding human liver glycogen phosphorylase (glycogenosis type VI) from a fetal brain cDNA library. Liver (L) and muscle (M) phosphorylase cDNA probes were used to determine the relative abundance of mRNA encoding the L- and M-isozymes of phosphorylase in human fetal and adult tissues. The transcript encoding the M-isozyme is 3.4 kb; the L-isozyme transcript is 3.3 kb. Transcriptional expression of the L-isozyme in human and primate tissues was found to differ from the isozyme's reported tissue specificity in non-primate mammals. Furthermore, using degenerate oligonucleotide probes to two different coding regions of M-phosphorylase, a novel 4.1-kb transcript was demonstrated to be present in human fetal and adult brain.

Original languageEnglish (US)
Pages (from-to)293-308
Number of pages16
JournalJournal of Neurogenetics
Volume4
Issue number1
DOIs
StatePublished - 1987

Fingerprint

Glycogen Storage Disease Type VI
Glycogen Phosphorylase
Isoenzymes
Phosphorylases
Complementary DNA
Organ Specificity
Liver Glycogen
Oligonucleotide Probes
Brain
Gene Library
Primates
Mammals
Fetus
Muscles
Messenger RNA
Liver

Keywords

  • Glycogen phosphorylase isozyme
  • Hers' disease
  • Human and primate tissues
  • McArdle's disease
  • Transcriptional expression

ASJC Scopus subject areas

  • Cellular and Molecular Neuroscience
  • Genetics
  • Developmental Biology
  • Neuroscience(all)

Cite this

Mcardle's & hers' diseases : Glycogen phosphorylase transcriptional expression in human tissues. / Gorin, Fredric A; Mullinax, Rebecca L.; Ignacio, Pamela C.; Neve, Rachael L.; Kurnit, David M.

In: Journal of Neurogenetics, Vol. 4, No. 1, 1987, p. 293-308.

Research output: Contribution to journalArticle

Gorin, Fredric A ; Mullinax, Rebecca L. ; Ignacio, Pamela C. ; Neve, Rachael L. ; Kurnit, David M. / Mcardle's & hers' diseases : Glycogen phosphorylase transcriptional expression in human tissues. In: Journal of Neurogenetics. 1987 ; Vol. 4, No. 1. pp. 293-308.
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