Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis

Human Molecular Genetics

Volumn 7, Issue 1, 1998, Pages 149-154

  Burwinkel, Barbara ^a   Shiomi, Susumu ^b   Al Zaben, Abdullah ^c   Kilimann, Manfred W ^d  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c KING FAHAD NATIONAL GUARD HOSPITAL   (Saudi Arabia)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA; PHOSPHORYLASE KINASE;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 16P; ENZYME ACTIVE SITE; ENZYME DEFICIENCY; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC RISK; GLYCOGEN STORAGE DISEASE; HUMAN; HUMAN CELL; INTRON; LIVER; LIVER CIRRHOSIS; MOLECULAR EVOLUTION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCHOOL CHILD; TESTIS;

AMINO ACID SEQUENCE; BASE SEQUENCE; GLYCOGEN; GLYCOGEN STORAGE DISEASE; HUMANS; LIVER; LIVER CIRRHOSIS; MOLECULAR SEQUENCE DATA; MUTATION; PHOSPHORYLASE KINASE;

EID: 0031965032     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.1.149     Document Type: Article

References (21)

1. Hendrickx, J., Coucke, P., Dams, E., Lee, P., Odievre, M., Corbeel, L., Fernandes, J.F. and Willems, P.J. (1995) Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease. Hum. Mol. Genet., 4, 77-83.
2. Van den Berg, I.E.T., Van Beurden, E.A.C.M., Malingre, H.E.M., Ploos van Amstel, H.E.K., Poll-The, B.T., Smeitink, J.A.M., Lamers, W.H. and Berger, R. (1995) X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase α subunit. Am. J. Hum. Genet., 56, 381-387.
3. Hirono, H., Hayasaka, K., Sato, W., Takahashi, T. and Takada, G. (1995) Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency. Biochem. Mol. Biol. Int., 36, 505-511.
4. Hendrickx, J., Dams, E., Coucke, P., Lee, P., Fernandes, J.F. and Willems, P.J. (1996) X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase. Hum. Mol. Genet., 5, 649-652.
5. Burwinkel, B., Shin, Y.S., Bakker, H.D., Deutsch, J., Lozano, M.J., Maire, I. and Kilimann, M.W. (1996) Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2). Hum. Mol. Genet., 5, 653-658.
6. Burwinkel, B., Maichele, A.J., Aagenaes, Ö., Bakker, H.D., Lerner, A., Shin, Y.S. and Kilimann, M.W. (1997) Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency caused by mutations in the phosphorylase kinase β subunit (PHKB). Hum. Mol. Genet., 6, 1109-1115.
7. Burwinkel, B., Moses, S.W. and Kilimann (1997) Phosphorylase kinase deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the β subunit gene (PHKB). Hum. Genet., in press
8. Maichele, A.J., Burwinkel, B., Maire, I., Sövik, O. and Kilimann, M.W. (1996) Mutations in the testis/liver isoform of the phosphorylase kinase y subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. Nature Genet., 14, 337-340.
9. Hers, H.-G., van Hoof, F. and de Barsy, T. (1989) Glycogen storage diseases. In Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), The Metabolic Basis of Inherited Disease. 6th edn. McGraw-Hill, New York, pp. 425-452.
10. Shiomi, S., Saeki, Y., Kim, K., Nishiguchi, S., Seki, S.,Kuroki, T., Kobayashi, K., Harihara, S. and Owada, M. (1989) A female case of type VIII glycogenosis who developed cirrhosis of the liver and hepatocellular tumor. Gastroenterol. Jap., 24, 711-714.
11. Kagalwalla, A.F., Kagalwalla, Y.A., Al Ajaji S., Gorka W. and Ali M.A. (1995) Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver. J. Pediatr, 127, 602-605.
12. Chen, Y.T. and Burchell, A. (1995) Glycogen storage diseases. In Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, 7th edn, Vol. I, pp. 935-965.
13. Cawley, K.C., Akita, C.G., Angelos, K.L. and Walsh, D.A. (1993) Characterisation of the gene for rat phosphorylase kinase catalytic subunit. J. Biol. Chem., 268, 1194-1200.
14. Maichele, A.J., Farwell, N.J. and Chamberlain, J.S. (1993) A B2 repeat insertion generates alternate structures of the mouse muscle γ-phosphorylase kinase gene. Genomics, 16, 139-149.
15. Hanks, S.K. (1989) Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis. Mol. Endocrinol., 3, 110-116.
16. Aperlo, C., Boulukos, K. E., Sage, J., Cuzin, F. and Pognonec, P. (1996) Complete sequencing of the murine USF gene and comparison of ist genomic organization to that of mFIP/USF2. Genomics, 37, 337-344.
17. Kuhen, K.L., Shen, X., Carlisle, E.R., Richardson, A.L., Weier, H.-U.G., Tanaka, H. and Samuel, C.E. (1996) Structural organization of the human gene (PKR) encoding an interferon-inducible RNA-dependent protein kinase (PKR) and differences from its mouse homolog. Genomics, 36, 197-201.
18. Wieringa, B., Hofer, E. and Weissmann, C. (1984) A minimal intron length but no specific internal sequence is required for splicing the large rabbit β-globin intron. Cell, 7, 915-925.
19. Smit, A.F.A. and Riggs, A.D. (1995) MIRs are classic, tRNA-derived SINEs that amplified before the mammalian radiation. Nucleic Acids Res., 23, 98-102.
20. Whitmore, S.A., Apostolou, S., Lane, S., Nancarrow, J. K., Phillips, H. A., Richards, R. I., Sutherland, G. R. and Callen, D.F. (1994) Isolation and characterisation of transcribed sequences from a chromosome 16 hn-cDNA library and physical mapping of genes and transcribed sequences using a high-resolution somatic cell panel of human chromosome 16. Genomics, 20, 169-175.
21. Willems, P.J., Gerver, W.J.M., Berger, R. and Fernandes, J. (1990) The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. Eur. J. Pediatr., 149, 2682-2671.