Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: Evidence for naturally occurring interallelic complementation

Human Molecular Genetics

Volumn 6, Issue 9, 1997, Pages 1457-1464

  Janata, Jirí ^a,b   Kogekar, Nandini ^a   Fenton, Wayne A ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b INSTITUTE OF MICROBIOLOGY   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

COBAMAMIDE; COMPLEMENTARY DNA; METHYLMALONYL COENZYME A MUTASE;

ANIMAL TISSUE; ARTICLE; CELL FREE SYSTEM; CELL LINE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME BINDING; ENZYME KINETICS; ESCHERICHIA COLI; FIBROBLAST; GENETIC COMPLEMENTATION; HUMAN; LIVER HOMOGENATE; METHYLMALONIC ACIDEMIA; MISSENSE MUTATION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FOLDING; RAT;

CELL LINE; ESCHERICHIA COLI; GENE EXPRESSION; GENETIC COMPLEMENTATION TEST; GENETIC VECTORS; HUMANS; METHYLMALONYL-COA MUTASE; MOLECULAR SEQUENCE DATA; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION;

ANIMALIA; ESCHERICHIA COLI;

EID: 0030760612     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.9.1457     Document Type: Article

References (23)

1. Fenton, W.A. and Rosenberg, L.E. (1995) Disorders of propionate and methylmalonate metabolism. In Scriver, C.R., Beaudet, A.L., Sly, W.M. and Valle, D. (eds), The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, pp. 1423-1450.
2. Fenton, W.A., Hack, A.M., Helfgott, D. and Rosenberg, L.E. (1984) Biogenesis of the mitochondrial enzyme methylmalonyl CoA mutase: synthesis and processing of a precursor in a cell-free system and in cultured cells. J. Biol. Chem., 259, 6616-6621.
3. Marsh, E.N., McKie, N., Davis, N.K. and Leadlay, P.F. (1989) Cloning and structural characterization of the genes coding for adenosylcobalamin-dependent methylmalonyl-CoA mutase from Propionibacterium shermanii. Biochem. J., 260, 345-352.
4. 12 radicals are generated: the crystal structure of methylmalonyl-coenzyme A mutase at 2 Å resolution. Structure, 4, 339-350.
5. 12 binding domains of methionine synthase. Science, 266, 1669-1674.
6. Willard, H.F. and Rosenberg, L.E. (1977) Inherited deficiencies of human methylmalonyl CoA mutase activity: reduced affinity of mutant apoenzyme for adenosylcobalamin. Biochem, Biophys. Res. Commun., 78, 927-934.
7. Willard, H.F. and Rosenberg, L.E. (1980) Inherited methylmalonyl CoA mutase apoenzyme deficiency in human fibroblasts: evidence for allelic heterogeneity, genetic compounds, and codominant expression. J. Clin. Invest., 65, 690-698.
8. Crane, A.M. and Ledley, F.D. (1994) Clustering of mutations in methylmalonyl CoA mutase associated with mur methylmalonic acidemia. Am. J. Hum. Genet., 55, 42-50.
9. - methylmalonic aciduria. J. Clin. Invest., 89, 385-391.
10. Drennan, C.L., Matthews, R.G., Rosenblatt, D.S., Ledley, F.D., Fenton, W.A. and Ludwig, M.L. (1996) Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase. Proc. Natl Acad. Sci. USA, 93, 5550-5555.
11. Ogasawara, M., Matsubara, Y., Mikami, H. and Narisawa, K. (1994) Identification of two novel mutations in the methylmalonyl CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia. Hum. Mol. Genet., 3, 867-872.
12. - methylmalonic aciduria by intra-allelic complementation. J. Clin. Invest., 87, 203-207.
13. 0 methylmalonic aciduria. J. Clin. Invest., 93, 1812-1819.
14. 0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning. Am. J. Hum. Genet., 47, 808-814.
15. Goloubinoff, P., Gatenby, A.A. and Lorimer, G.H. (1989) GroE heat-shock proteins promote assembly of foreign prokaryotic ribulose bisphosphate carboxylase oligomers in Escherichia coli. Nature, 337, 44-47.
16. Weissman, J.S., Hohl, C.M., Kovalenko, O., Kashi, Y., Chen, S., Braig, K., Saibil, H.R., Fenton, W.A. and Horwich, A.L. (1995) Mechanism of GroEL action: productive release of polypeptide from a sequestered position under GroES. Cell, 83, 577-87.
17. Fenton, W.A., Hack, A.M., Willard, H.F., Gertler, A. and Rosenberg, L.E. (1982) Purification and properties of methylmalonyl coenzyme A mutase from human liver. Arch. Biochem. Biophys., 214, 815-823.
18. Taoka, S., Padmakumar, R., Lai, M., Liu, H. and Banerjee, R. (1994) Inhibition of the human methylmalonyl-CoA mutase by various CoA-esters. J. Biol. Chem., 269, 31630-31634.
19. Ledley, F.D. and Rosenblatt, D.S. (1997) Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations. Hum. Mutat., 9, 1-6.
20. Andrews, E., Jansen, R., Crane, A.M., Cholin, S., McDonnell, D. and Ledley, F.D. (1993) Expression of recombinant human methylmalonyl-CoA mutase in primary mut fibroblasts and Saccharomyces cerevisiae. Biochem. Med. Metab. Biol., 50, 135-144.
21. 12 cofactors: the proteins make a difference. Structure, 4, 505-512.
22. 12 therapy. Can. Med. Assoc. J., 120, 1230-1235.
23. Jansen, R., Kalousek, F., Fenton, W., Rosenberg, L.E. and Ledley, F.D. (1989) Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction. Genomics 4, 198-205.