Summary
A deficiency in phosphorylase kinase is responsible for several forms of glycogen storage disease which differ in heredity and affected tissues. This is so because phosphorylase kinase consists of four different subunits and has multiple tissue-specific isoforms. To elucidate the molecular basis of phosphorylase kinase deficiencies, the cDNAs encoding the subunits α and β were cloned and sequenced. Each subunit was shown to be encoded by a single gene. The α subunit gene was mapped to chromosome Xq12-q13 and the β subunit gene to chromosome 16q12-q13. Isoform cDNAs reveal differential mRNA splicing. Thus, the stage is set for the molecular characterization of the genes and their deficiency mutations.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Abarbanel, J.M., Bashan, N., Potashnik, R., Osimani, A., Moses, S.W. and Herishanu, Y. Adult muscle phosphorylase h kinase deficiency. Neurology 36 (1986) 560–562
Abarbanel, J.M., Bashan, N., Potashnik, R., Osimani, A., Moses, S.W. and Herishanu, Y. Adult muscle phosphorylase h kinase deficiency. Neurology 36 (1986) 560–562
Bender, P.K. and Emerson, C.P. Skeletal muscle phosphorylase kinase catalytic subunit mRNAs are expressed in heart tissue but not in liver, J. Biol. Chem. 262 (1987) 8799–8805
Bender. P.K., Dedman. J.R. and Emerson, C.P. The abundance of calmodulin mRNAs is regulated in phosphorylase kinase-deficient skeletal muscle. J. Biol. Chem. 263 (1988) 9733–9737
Chamberlain, J.S., Van Tuinen, P., Reeves, A.A., Philip, B.A. and Caskey, C.T. Isolation of cDNA clones for the catalytic subunit of mouse muscle phosphorylase kinase: expression of mRNA in normal and mutant Phk mice. Proc. Natl. Acad. Sci. USA 84 (1987) 2886–2890
Cohen, P.T.W. and Cohen, P. The molecular basis of muscle phosphorylase kinase deficiency in I-strain mice. In Randle, P.J., Steiner, D.F. and Whelan, W.J. (eds.), Carbohydrate Metabolism and its Disorders, Vol. 3. Academic Press, London, 1981, pp. 119–138
Cremers, F.P.M., van de Pol, D.J.R., Diergaarde, D.J., Wieringa, B., Nussbaum, R.L., Schwartz, M. and Ropers, H.H. Physical fine mapping of the chorioideremia locus using Xq21 deletions J. Inher. Metab. Dis. 13 (1990) associated with complex syndromes. Genomics 4 (1989) 41–46
da Cruz e Silva, E.F. and Cohen, P.T.W. Isolation and sequence analysis of a cDNA clone encoding the entire catalytic subunit of phosphorylase kinase. FEBS Lett. 220 (1987) 36 42
Eishi, Y., Takemura, T., Sone, R., Yamamura, H., Narisawa, K., Ichinohasama, R., Tanaka, M. and Hatakeyama, S. Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: A new type of glycogen storage disease. Hum. Pathol. 16 (1985) 193–197
Fischer, R., Koller, M., Flura, M., Mathews, S., Strehler-Page, M.-A., Krebs, J., Penniston, J.T., Carafoli, E. and Strehler, E.E. Multiple divergent mRNAs code for a single human calmodulin. J. Biol. Chem. 263 (1988) 17055–17062
Francke, U., Darras, B.T., Zander, N.F. and Kilimann, M.W. Assignment of human genes for phosphorylase kinase subunits a (PHKA) to Xq12-q13 and if (PHKB) to 16g12-q13. Am. J. Hum. Genet. 45 (1989) 276–282
Huijing, F. and Fernandes, J. X-Chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency. Am. J. Hum. Genet. 21 (1969) 275–284
Kilimann, M.W., Zander, N.F., Kuhn, C.C., Crabb, J.W., Meyer, H.E. and Heilmeyer, L.M.G. Jr. The x and if subunits of phosphorylase kinase are homologous: cDNA cloning and primary structure of the β subunit. Proc. Natl. Acad. Sci. USA 85 (1988) 9381–9385
Lebo, R.V., Gorin, F., Fletterick, F.J., Kao, F.-T., Cheung, M.C., Bruce, B.D. and Kan, Y.W. High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle’s syndrome to chromosome 11. Science 225 (1984) 57–59
Lederer, G.. van de Werve, G., de Barsy, Th. and Hers, H.G. The autosomal form of phosphorylase kinase deficiency in man: Reduced activity of the muscle enzyme. Biochem. Biophys. Res. Commun. 92 (1980) 169–174
Lerner, A., Iancu, T.C., Bashan, N., Potashnik, R. and Moses, S. A new variant of glycogen storage disease. Am. J. Dis. Child 136 (1982) 406–410
Lyon, J.B. The X chromosome and the enzymes controlling muscle glycogen: phosphorylase kinase. Biochem. Genet. 4 (1970) 169–175
Malthus, R., Clark, D.G., Watts, C. and Sneyd, J.G.T. Glycogen storage disease in rats: a genetically determined deficiency of liver phosphorylase kinase. Biochem. J. 188 (1980) 99–106
Newgard, C.B., Fletterick, R.J., Anderson, L.A. and Lebo, R.V. The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14. Am. J. I1um. Genet. 40 (1987) 351–364
Newgard, C.B., Littmann, D.R., van Genderen, C., Smith, M. and Fletterick, R.J. Human brain glycogen phosphorylase. J. Biol. Chem. 263 (1988) 3850–3857
Ohtani, Y., Matsuda, I., Iwamasa, T., Tamari, H., Origuchi, Y. and Miike, T. Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency. Neurology 32 (1982) 833–838
Pickett-Gies, C.R. and Walsh, D.A. Phosphorylase kinase. In Boyer, P.D. and Krebs, E.G. (eds.). The Enzymes, Vol. 17, Academic Press, Orlando, FL, 1986, pp. 395–459
Scambler, P.J., McPherson, M.A., Bates, G., Bradbury, N.A., Dormer, R.L. and Williamson, R. Biochemical and genetic exclusion of calmodulin as the site of the basic defect in cystic fibrosis. Hum. Genet. 76 (1987) 278–282
Schimke, R.N., Zakheim, R.M., Corder, R.C. and Hug, G. Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency. J. Pediatr. 83 (1973) 1031–1034
Servidei, S., Metlay, L.A., Chodosh, J. and DiMauro, S. Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency. J. Pediatr. 113 (1988) 82–85
Zander, N.F., Meyer, H.E., Hoffmann-Posorske, E., Crabb, J.W., Heilmeyer, L.M.G. Jr. and Kilimann, M.W. cDNA cloning and complete primary structure of skeletal muscle phosphorylase kinase (x subunit). Proc. Natl. Acad. Sci. USA 85 (1988) 2929–2933
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1990 SSIEM and Kluwer Academic Publishers
About this chapter
Cite this chapter
Kilimann, M.W. (1990). Molecular Genetics of Phosphorylase Kinase: cDNA Cloning, Chromosomal Mapping and Isoform Structure. In: Harkness, R.A., Pollitt, R.J., Addison, G.M. (eds) Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-2175-7_5
Download citation
DOI: https://doi.org/10.1007/978-94-009-2175-7_5
Publisher Name: Springer, Dordrecht
Print ISBN: 978-0-7923-8947-7
Online ISBN: 978-94-009-2175-7
eBook Packages: Springer Book Archive