Isolation of the human phosphomannomutase gene (PMM1) and assignment to chromosome 22q13

Genomics

Volumn 39, Issue 3, 1997, Pages 416-417

  Wada, Yoshinao ^a   Sakamoto, Mayumi ^a  

^a RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MANNOSE PHOSPHATE; MUTASE;

ARTICLE; CHROMOSOME 22Q; GENE ASSIGNMENT; GENE ISOLATION; GENE LOCUS; GLYCOSYLATION; HUMAN; PRIORITY JOURNAL;

EID: 0031081505     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.4487     Document Type: Article

References (10)

1. 1. Boles, E., Liebetrau, W., Hofmann, M., and Zimmermann, F. K. (1994). A family of hexosephosphate mutases in Saccharomyces cerevisiae. Eur. J. Biochem. 220: 83-96.
2. 2. Glaser, L., Kornfeld, S., and Brown, D. H. (1959). Preparation and properties of phosphomannomutase from baker's yeast. Biochim. Biophys. Acta 33: 522-526.
3. 3. Jaeken, J., Besley, G., Buist, N., Jewett, T., Lambert, M., Ogier de Baulny, H., Ohno, K., Pineda, M., Rhead, W., Sengers, R., Simeray, T., Skladal, D., Smeitink, J., Smit, P., Van der Knaap, M., Walter, H., Wevers, R., and Van Schaftingen, E. (1996). Phosphomannomutase deficiency is the major cause of carbohydrate-deficient glycoprotein syndrome type I. J. Inher. Metab. Dis. 19(Suppl. 1): 6.
4. 4. Kepes, F., and Schekman, R. (1988). The yeast SEC53 gene encodes phosphomannomutase. J. Biol. Chem. 263: 9155-9161.
5. 5. Martinsson, T., Bjursell, C., Stibler, H., Kristiansson, B., Skovby, F., Jaeken, J., Blennow, G., Strömme, P., Hanefeld, F., and Wahlström, J. (1994). Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406. Hum. Mol. Genet. 3: 2037-2042.
6. 6. Matthijs, G., Legius, E., Schollen, E., Vandenberk, P,. Jaeken, J., Barone, R., Fiumara, A., Visser, G., Lambert, M., and Cassiman, J-J. (1996). Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1). Genomics 35: 597-599.
7. 7. Stibler, H., and Jaeken, J. (1990). Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome. Arch. Dis. Child 65: 107-111.
8. 8. Van Schaftingen, E., and Jaeken, J. (1995). Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett. 377: 318-320.
9. 9. Wada, Y., Nishikawa, A., Okamoto, N., Inui, K., Tsukamoto, H., Okada, S., and Taniguchi, N. (1992). Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome. Biochem. Biophys. Res. Commun. 189: 832-836.
10. 10. Yamashita, K., Ideo, H., Ohkura, T., Fukushima, K., Yuasa, I., Ohno, K., and Takeshita, K. (1993). Sugar chains of serum transferrin from patients with carbohydrate deficient glycoprotein syndrome. Evidence of asparagine-N-linked oligosaccharide transfer deficiency. J. Biol. Chem. 268, 5783-5789.