Human methylenetetrahydrofolate reductase: Isolation of cDNA, mapping and mutation identification

Nature Genetics

Volumn 7, Issue 2, 1994, Pages 195-200

  Goyette, Philippe ^a   Sumner, James S ^b   Milos, Renate ^a   Duncan, Alessandra M V ^c   Rosenblatt, David S ^a,d   Matthews, Rowena G ^b   Rozen, Rima ^a  

^a RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^b UNIVERSITY OF MICHIGAN   (United States)

^c QUEEN S UNIVERSITY   (Canada)

^d MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2);

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOMAL LOCALIZATION; CHROMOSOME 1P; ENZYME DEFICIENCY; HUMAN; HUMAN CELL; NONHUMAN; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; SWINE;

AMINO ACID SEQUENCE; ANIMALS; BACTERIAL PROTEINS; BASE SEQUENCE; CARDIOVASCULAR DISEASES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; DNA, COMPLEMENTARY; FEMALE; HOMOCYSTEINE; HUMANS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MOLECULAR SEQUENCE DATA; NERVOUS SYSTEM DISEASES; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; PEDIGREE; POINT MUTATION; SEQUENCE HOMOLOGY, AMINO ACID; SWINE;

BACTERIA (MICROORGANISMS); SUIDAE; SUS SCROFA;

EID: 0028304102     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0694-195     Document Type: Article

References (24)

1. Daubner, S.C. & Matthews, R.G. Purification and properties of methylenetetrahydrofolate reductase from pig liver. J. biol. Chem. 257, 140-145 (1982).
2. Matthews, R.G., Vanoni, M.A., Hainfeld, J.F. & Wall, J. Methylenetetrahydrofolate reductase. Evidence for spatially distinct subunit domains obtained by scanning transmission electron microscopy and limited proteolysis. J. biol. Chem. 259, 11647-11650 (1984).
3. Sumner, J., Jencks, D.A., Khani, S., & Matthews, R.G. Photoaffinity labeling of methylenetetrahydrofolate reductase with 8-azido-S-adenosylmethionine. J. biol. Chem. 261, 7697-7700 (1986).
4. Rosenblatt, D.S. Inherited disorders of folate transport and metabolism. in The Metabolic Basis of Inherited Disease (eds Scriver, C.R., Beaudet, A.L, Sly, W.S. & Valle, D.) 2049-2064 (McGraw-Hill, New York, 1989).
5. Rosenblatt, D.S., Lue-Shing, H., Arzoumanian, A., Low-Nang, L. & Matiaszuk, N. Methylenetetrahydrofolate reductase (MR) deficiency: Thermolability of residual MR activity, methionine synthase activity, and methylcobalamin levels in cultured fibroblasts. Biochem. Med. metab. Biol. 47, 221-225 (1992).
6. Haworth, J.C. et al. Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers. Am. J. med. Genet. 45, 572-576 (1993).
7. Kang, S-S. et al. Thermolabile methylenetetrahydrofolate reductase: An inherited risk factor for coronary artery disease. Am. J. hum. Genet. 48, 536-545 (1991).
8. Saint-Girons, I. et al. Nucleotide sequence of metF, the E. coli structural gene for 5-10 methylene tetrahydrofolate reductase and of its control region. Nucl. Acids Res. 11, 6723-6732 (1983).
9. Matthews, R.G. Methylenetetrahydrofolate reductase from pig liver. Meth. Enzymol. 122, 372-381 (1986).
10. Stauffer, G.V. & Stauffer L.T. Cloning and nucleotide sequence of the Salmonella typhimurium LT2 metF gene and its homology with the corresponding sequence of Escherichia coli. Molec. Gen. Genet. 212, 246-251 (1988).
11. Yang, E. & Friedberg, E.C. Molecular cloning and nucleotide sequence analysis of the Saccaromyces cerevisiae RADI gene. Molec. Cell Biol. 4, 2161-2169 (1984).
12. Orita, M., Suzuki, Y., Sekiya, T. & Hayashi, K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5, 8874-8879 (1989).
13. Katzen, H.M. & Buchanan, J.M. Enzymatic synthesis of the methyl group of methionine VIII. Repression-derepression, purification and properties of 5,10-methylenetetrahydrofolate reductase from Escherichia coli. J. biol. Chem. 240, 825-835 (1965).
14. Kutzbach, C., & Stokstad, E.L.R. Mammalian methylenetetrahydrofolate reductase. Partial purification, properties, and inhibition by S-adenosylmethionine. Biochim. Biophys. Acta 250, 459-577 (1971).
15. Zhou, J., Kang, S-S., Wong, P.W.K., Fournier, B. & Rozen, R. Purification and characterization of methylenetetrahydrofolate reductase from human cadaver liver. Biochem. Med. metab. Biol. 43, 234-242 (1990).
16. Branden, C. & Tooze, J. in Introduction to Protein Structure (Garland Publishing, New York, 1991).
17. Kang S-S., Wong, P.W.K., Bock, H-G., O., Horwitz, A. & Grix, A. Intermediate hyperhomocysteinemia resulting from compound heterozygosity of methylenetetrahydrofolate reductase mutations. Am. J. hum. Genet. 48, 546-551 (1991).
18. Boers, G. H. J. et al. Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease. New Engl. J. Med. 313, 709-715 (1985).
19. Clarke, R. et al. Homocysteinemia: an independent risk factor for vascular disease. New Engl. J. Med. 324, 1149-1155 (1991).
20. Som, S. & Friedman, S. Direct photolabelling of the EcoRII methyltransferase with S-adenosyl-L-methionine. J. biol. Chem. 285, 4278-4283 (1990).
21. Harper, M.E. & Saunders G. F. Localization of single copy DNA sequences on G-banded human chromosomes by in situ hybridization. Chromosoma 83, 431-439 (1981).
22. Lin, C.C., Draper, P.N. & De Braekeleer, M. High resolution chromosomal localization of the b gene of the human β globin gene complex by in situ hybridization. Cytogenet. Cell Genet. 39, 269-274 (1985).
23. Dockhorn-Dworniczak, B et al. Non-isotopic detection of single strand conformation polymorphism (PCR-SSCP): a rapid and sensitive technique in diagnosis of phenylketonuria. Nucl. Acids Res. 19, 2500 (1991).
24. Rozen, R., Fox, J., Fenton, W.A., Horwich A.L. & Rosenberg, L.E. Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus. Nature 313, 815-817 (1985).