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 › peer-review

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)

Access to Document

10.3109/01677068709102350

Fingerprint Dive into the research topics of 'Mcardle's & hers' diseases: Glycogen phosphorylase transcriptional expression in human tissues'. Together they form a unique fingerprint.

Cite this

@article{bf4667d9d53241728c45c7878ef0775a,

title = "Mcardle's & hers' diseases: Glycogen phosphorylase transcriptional expression in human tissues",

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",

author = "Gorin, {Fredric A} and Mullinax, {Rebecca L.} and Ignacio, {Pamela C.} and Neve, {Rachael L.} and Kurnit, {David M.}",

year = "1987",

doi = "10.3109/01677068709102350",

language = "English (US)",

volume = "4",

pages = "293--308",

journal = "Journal of Neurogenetics",

issn = "0167-7063",

publisher = "Informa Healthcare",

number = "1",

}

TY - JOUR

T1 - Mcardle's & hers' diseases

T2 - Glycogen phosphorylase transcriptional expression in human tissues

AU - Gorin, Fredric A

AU - Mullinax, Rebecca L.

AU - Ignacio, Pamela C.

AU - Neve, Rachael L.

AU - Kurnit, David M.

PY - 1987

Y1 - 1987

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.

KW - Glycogen phosphorylase isozyme

KW - Hers' disease

KW - Human and primate tissues

KW - McArdle's disease

KW - Transcriptional expression

UR - http://www.scopus.com/inward/record.url?scp=0023571421&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0023571421&partnerID=8YFLogxK

U2 - 10.3109/01677068709102350

DO - 10.3109/01677068709102350

M3 - Article

C2 - 3509980

AN - SCOPUS:0023571421

VL - 4

SP - 293

EP - 308

JO - Journal of Neurogenetics

JF - Journal of Neurogenetics

SN - 0167-7063

IS - 1

ER -