Carbohydrate-deficient glycoprotein syndrome type 1A: Expression and characterisation of wild type and mutant PMM2 in E. coli

European Journal of Human Genetics

Volumn 7, Issue 8, 1999, Pages 884-888

  Kjaergaard, Susanne ^a   Skovby, Flemming ^b   Schwartz, Marianne ^b  

^a University of Copenhagen   (Denmark)

^b NONE

Author keywords

Carbohydrate deficient glycoprotein syndrome 1A; Gene expression; Phosphomannomutase; PMM2

Indexed keywords

COMPLEMENTARY DNA; GLYCOPROTEIN; MANNOSE PHOSPHATE; PHOSPHOMANNOMUTASE; RECOMBINANT PROTEIN;

ARTICLE; CLINICAL ARTICLE; CLONING VECTOR; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; DENMARK; ENZYMATIC ASSAY; ENZYME ACTIVITY; ENZYME SUBSTRATE COMPLEX; ESCHERICHIA COLI; GENE EXPRESSION; GENOTYPE; HUMAN; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS; TEMPERATURE SENSITIVITY;

EID: 0033389547     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200398     Document Type: Article

References (15)

1. Matthijs G, Schollen E, Pirard M et al: PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13. Genomics 1997; 40: 41-47.
2. Matthijs G, Schollen E, Pardon E et al: Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nat Genet 1997; 16: 88-92.
3. Matthijs G, Schollen E, Van Schaftingen E, Cassiman JJ, Jaeken J: Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. Am J Hum Genet 1998; 62: 542-550.
4. Kjaergaard S, Skovby F, Schwartz M: Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1. Eur J Hum Genet 1998; 6: 331-336.
5. Bjursell C, Wahlström J, Berg K et al: Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families. Eur J Hum Genet 1998; 6: 603-611.
6. Kondo I, Mizugishi K, Yoneda Y et al: Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1. Clin Genet 1999; 55: 50-54.
7. Van Tintelen P, Matthijs G, Braam W, Cassiman JJ, Duran M, Poll-The BT: Homozygosity for the F119L mutation in the PMM2 gene in an adult with CDG syndrome type Ia. Eur J Hum Genet 1998; 6 (Suppl 1): 62.
8. Stibler H, Jaeken J, Kristiansson B: Biochemical characteristics and diagnosis of the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand 1991; 375 (suppl): 21-31.
9. De Koning TJ, Dorland L, Van Diggelen OP et al: A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency. Biochem Biophys Res Com 1998; 245: 38-42.
10. Van Schaftingen E, Jaeken J: Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett 1995; 377: 318-320.
11. Studier FW, Moffatt BA: Use of bacteriophage T7 RNA polymerase to direct selective high-level expression of cloned genes. J Mol Biol 1986; 189: 113-130.
12. Higuchi R: Recombinant PCR. In Innis MA, Gelfand DH, Sninsky JJ, White TJ (eds). PCR Protocols. A Guide to Methods and Applications. Academic Press: San Diego, 1988, pp 177-183.
13. Schollen E, Pardon E, Heykants L et al: Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2 ψ the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene. Hum Mol Genet 1998; 7: 157-164.
14. Pirard M, Achouri Y, Collet JF, Schollen E, Matthijs G, Van Schaftingen E: Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes. Biochem J 1999; 339: 201-207.
15. Kepes F, Schekman R: The yeast SEC53 gene encodes phosphomannomutase. J Biol Chem 1988; 263: 9155-9161.