Complete genomic structure and mutational spectrum of PHKA2 in patients with X-linked liver glycogenosis type I and II

American Journal of Human Genetics

Volumn 64, Issue 6, 1999, Pages 1541-1549

  Hendrickx, Jan ^a   Lee, Philip ^b   Keating, James P ^f   Carton, Dietbrand ^c   Sardharwalla, Imdadali B ^f   Tuchman, Mendel ^d   Baussan, Christiane ^e   Willems, Patrick J ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

^d UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^e BICÊTRE HOSPITAL   (France)

^f University of Antwerp RUCA ^*

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHORYLASE KINASE;

ARTICLE; CLINICAL ARTICLE; DELETION MUTANT; ENZYME ACTIVITY; EXON; GENE STRUCTURE; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE 1; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOMAL INHERITANCE;

EID: 0033361945     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302399     Document Type: Article

References (36)

1. Bakker HD, Taminiau JAJM, Van Den Berg JET, Berger R (1991) Hepatic phosphorylase b kinase deficiency with normal enzyme activity in leukocytes and erythrocytes. J Inherit Metab Dis 14:269-270
2. Blonden LAJ, den Dunnen JT, van Paassen HM, Wapenaar MC, Grootscholten PM, Ginjaar HB, Bakker E, et al (1989) High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridisation. Nucleic Acid Res 17: 5611-5621
3. Burwinkel B, Amat L, Gray RGF, Matsuo N, Muroya K, Narisawa K, Sokol RJ, et al (1998) Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene. Hum Genet 102:423-429
4. Burwinkel B, Shin YS, Bakker D, Deutsch J, Lozano MJ, Maire I, Kilimann MW (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
5. Cohen PTW, Burchell A, Cohen P (1976) The molecular basis of skeletal muscle phosphorylase kinase deficiency. Eur J Biochem 66:347-356
6. Davidson JJ, Ozcelik T, Hamacher C, Willems PJ, Francke U, Kilimann MW (1992) cDNA encoding a liver isoform of the phosphorylase kinase α subunit: its structural gene maps to the locus of X-linked liver glycogenosis. Proc Natl Acad Sci USA 89:2096-2100
7. Fischer R, Koller M, Flura M, Mathews S, Strehler-Page M-A, Krebs J, Penniston JT, et al (1988) Multiple divergent mRNAs code for a single human calmodulin. J Biol Chem 263:17055-17062
8. Gitzelmann R (1957) Glukagonprobleme bei den Glykogenspeicherkrankheiten. Helv Paediatr Acta 12:425-479
9. Hanks SK (1989) Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis. Mol Endocrinol 3:110-116
10. Hendrickx J, Bosshard NU, Willems P, Gitzelmann R (1998) Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years. Eur J Pediatr 157:919-923
11. Hendrickx J, Coucke P, Bossuyt P, Wauters J, Raeymaekers P, Marchau F, Smit GPA, et al (1993) X-linked liver glycogenosis: localization and isolation of a candidate gene. Hum Mol Genet 2:583-589
12. Hendrickx J, Coucke P, Dams E, Lee P, Corbeel L, Odièvre M, Fernandes JF, et al (1995) Mutations in a phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogenosis. Hum Mol Genet 4:77-83
13. Hendrickx J, Coucke P, Hors-Cayla MC, Smit GPA, Smeitink J, Berger R, Lee P, et al (1994) Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver α-subunit of phosphorylase kinase (PHKA2). Genomics 21:620-625
14. Hendrickx J, Dams E, Coucke P, Lee P, Fernandes J, Willems PJ (1996) X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver α subunit of phosphorylase kinase. Hum Mol Genet 5: 649-652
15. Hendrickx J, Willems PJ (1996) Genetic deficiencies of the glycogen phosphorylase system. Hum Genet 97:551-556
16. Hirono H, Hayasaka K, Sato W, Takahashi T, Takada G (1995) Isolation of cDNA encoding the human liver phosphorylase kinase α 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
17. Huijing F, Fernandes J (1969) X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency. Am J Hum Genet 21:275-284
18. Keating JP, Brown BI, White NH, DiMauro S (1985) X-linked glycogen storage disease, a cause of hypotonia, hyperuricemia, and growth retardation. Am J Dis Child 139: 609-613
19. Kilimann MW, Zander NF, Kuhn CC, Crabb JW, Meyer HE, Heilmeyer LMG (1988) The α and β subunits of phosphorylase kinase are homologous: cDNA cloning and primary structure of the β subunit. Proc Natl Acad Sci USA 85: 9381-9385
20. Lederer B, Van Hoof R, Van Den Berghe G, Hers HG (1975) Glycogen phosphorylase and its converter enzymes in hemolysates of normal human subjects and of patients with type VI glycogen storage disease: a study of phosphorylase kinase deficiency. Biochem J 147:23-35
21. Lozano MJ, Benlloch T, Garcia LV, Garcia Fuentes M (1994) Hepatic phosphorylase b kinase deficiency with normal enzyme activity in erythrocytes and muscle. J Inherit Metab Dis 17:116-117
22. Maire I, Baussan C, Moatti N, Mathieu M, Lemonnier A (1991) Biochemical diagnosis of hepatic glycogen storage disease: 20 years of French experience. Clin Biochem 24: 169-178
23. Picton C, Shenolikar S, Grand R, Cohen P (1983) Calmodulin as an integral subunit of phosphorylase kinase from skeletal muscle. Methods Enzymol 102:219-277
24. Schimke RN, Zakheim RM, Corder RC, Hug G (1973) Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency. J Pediatr 83: 1031-1034
25. Schneider A, Davidson JJ, Wullrich A, Kilimann MW (1993) Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform. Nat Genet 5:381-385
26. SenGupta B, Friedberg F, Detera-Wadleigh SD (1987) Molecular analysis of human and rat calmodulin complementary DNA clones: evidence for additional active genes in these species. J Biol Chem 262:16663-16670
27. Shapiro MB, Senapathy P (1987) RNA splicing of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 15: 7155-7174
28. Sulston J, Du Z, Thomas K, Wilson R, Hillier L, Staden R, Halloran N, et al (1992) The C. elegans genome sequencing project: a beginning. Nature 356:37-41
29. Tuchman M, Brown BI, Burke BA, Ulstrom RA (1986) Clinical and laboratory observations in a child with hepatic phosphorylase kinase deficiency. Metabolism 35:627-633
30. van den Berg IET, van Beurden EACM, Malingré HEM, van Amstel HKP, Poll-The BT, Smeitink JAM, Lamers WH, et al (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
31. Wawrzynczak EJ, Perham RN (1984) Isolation and nucleotide sequence of a cDNA encoding human calmodulin. Biochem Int 9:177-185
32. Wehner M, Kilimann MW (1995) Human cDNA encoding the muscle isoform of the phosphorylase kinase γ subunit (PHKG1). Hum Genet 96:616-618
33. Willems PJ, Gerver WJM, Berger R, Fernandes J (1990) The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. Eur J Pediatr 149:268-271
34. Wüllrich A, Hamacher C, Schneider A, Kilimann MW (1993) The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution. J Biol Chem 268:23208-23214
35. Wüllrich-Schmoll A, Kilimann MW (1996) Structure of the human gene encoding the phosphorylase kinase β subunit (PHKB). Eur J Biochem 238:374-380
36. Zander NF, Meyer HE, Hoffmann-Posorske E, Crabb JW, Heilmeyer LMG, Kilimann MW (1988) cDNA cloning and complete primary structure of skeletal muscle phosphorylase kinase (α subunit). Proc Natl Acad Sci USA 85:2929-2933