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

doi:10.3109/01677068709102350

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

Neurology

Research output: Contribution to journal › Article

12 Scopus citations

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 language	English (US)
Pages (from-to)	293-308
Number of pages	16
Journal	Journal of Neurogenetics
Volume	4
Issue number	1
DOIs	https://doi.org/10.3109/01677068709102350
State	Published - 1987

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)

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Gorin, F. A., Mullinax, R. L., Ignacio, P. C., Neve, R. L., & Kurnit, D. M. (1987). Mcardle's & hers' diseases: Glycogen phosphorylase transcriptional expression in human tissues. Journal of Neurogenetics, 4(1), 293-308. https://doi.org/10.3109/01677068709102350

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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.",

keywords = "Glycogen phosphorylase isozyme, Hers' disease, Human and primate tissues, McArdle's disease, Transcriptional expression",

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AU - Gorin, Fredric A

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AU - Neve, Rachael L.

AU - Kurnit, David M.

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N2 - 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.

AB - 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.

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