McArdle's & Hers' diseases: glycogen phosphorylase transcriptional expression in human tissues.
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.
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001921:Brain / Q000201:enzymology; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D005333:Fetus; D006008:Glycogen Storage Disease / Q000201:enzymology*; D006010:Glycogen Storage Disease Type III / Q000201:enzymology* / Q000235:genetics; D006013:Glycogen Storage Disease Type VI / Q000201:enzymology* / Q000235:genetics; D006801:Humans; D007527:Isoenzymes / Q000235:genetics*; D008099:Liver / Q000201:enzymology; D008969:Molecular Sequence Data; D009132:Muscles / Q000201:enzymology; D006005:Phosphorylases / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D011817:Rabbits; D012689:Sequence Homology, Nucleic Acid; D014158:Transcription, Genetic
D007527:Isoenzymes; D012333:RNA, Messenger; D004247:DNA; D006005:Phosphorylases