Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli

Human Molecular Genetics

Volumn 13, Issue 12, 2004, Pages 1249-1255

  Schwarz, Günter ^a   Santamaria Araujo, José Angel ^a   Wolf, Stefan ^b   Lee, Heon Jin ^b   Adham, Ibrahim M ^b   Gröne, Hermann Josef ^c   Schwegler, Herbert ^d   Sass, Jörn Oliver ^e   Otte, Tanja ^a   Hänzelmann, Petra ^a   Mendel, Ralf R ^a   Engel, Wolfgang ^b   Reiss, Jochen ^b  

^a TECHNICAL UNIVERSITY OF BRAUNSCHWEIG   (Germany)

^b UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^c GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^d OTTO VON GUERICKE UNIVERSITY   (Germany)

^e UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALDEHYDE OXIDASE; MOLYBDENUM COFACTOR; PTERIN; PTERIN DERIVATIVE; SULFITE OXIDASE; UNCLASSIFIED DRUG; XANTHINE OXIDASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CHEMICAL STRUCTURE; CONTROLLED STUDY; ENZYME DEFICIENCY; ENZYME REPLACEMENT; ESCHERICHIA COLI; FERTILITY; GENE MUTATION; GENETIC DISORDER; GROWTH; KNOCKOUT MOUSE; MOLECULAR STABILITY; MOUSE; NONHUMAN; PHENOTYPE; PLEIOTROPY; PRECURSOR; PRIORITY JOURNAL; PURIFICATION;

ANIMALS; COENZYMES; DEFICIENCY DISEASES; ENZYME ACTIVATION; ESCHERICHIA COLI PROTEINS; METALLOPROTEINS; MICE; MICE, KNOCKOUT; MODELS, ANIMAL; PROTEIN PRECURSORS; PTERIDINES;

BACTERIA (MICROORGANISMS); ESCHERICHIA COLI;

EID: 3042777530     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddh136     Document Type: Article

References (39)

1. Rajagopalan, K.V. and Johnson, J.L. (1992) The pterin molybdenum cofactors. J. Biol. Chem., 267, 10199-10202.
2. Wahl, R.C., Hageman, R.V. and Rajagopalan, K.V. (1984) The relationship of Mo, molybdopterin, and the cyanolyzable sulfur in the Mo cofactor. Arch. Biochem. Biophys., 230, 264-273.
3. Reiss, J., Cohen, N., Dorche, C., Mandel, H., Mendel, R.R., Stallmeyer, B., Zabot, M.T. and Dierks, T. (1998) Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. Nat. Genet., 20, 51-53.
4. Stallmeyer, B., Drugeon, G., Reiss, J., Haenni, A.L. and Mendel, R.R. (1999) Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames. Am. J. Hum. Genet., 64, 698-705.
5. Stallmeyer, B., Schwarz, G., Schulze, J., Nerlich, A., Reiss, J., Kirsch, J. and Mendel, R.R. (1999) The neurotransmitter receptor-anchoring protein gephyrin reconstitutes molybdenum cofactor biosynthesis in bacteria, plants, and mammalian cells. Proc. Natl Acad. Sci. USA, 96, 1333-1338.
6. Mendel, R.R. and Schwarz, G. (2002) Biosynthesis and molecular biology of the molybdenum cofactor (Moco). Met. Ions Biol. Syst., 39, 317-368.
7. Rajagopalan, K.V. (1996) Biosynthesis of the molybdenum cofactor. In Neidhardt, F.C. (ed.), Escherichia coli and Salmonella typhimurium. ASM Press, Washington DC, pp. 674-679.
8. Duran, M., Beemer, F.A., van de Heiden, C., Korteland, J., de Bree, P.K., Brink, M., Wadman, S.K. and Lombeck, I. (1978) Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport? J. Inherit. Metab. Dis., 1, 175-178.
9. Johnson, J.L., Waud, W.R., Rajagopalan, K.V., Duran, M., Beemer, F.A. and Wadman, S.K. (1980) Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor. Proc. Natl Acad. Sci. USA, 77, 3715-3719.
10. Reiss, J. (2000) Genetics of molybdenum cofactor deficiency. Hum. Genet., 106, 157-163.
11. Johnson, J.L. and Duran, M. (2001) Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. In Scriver, C., Beaudet, A., Sly, W. and Valle, D. (eds), The Metabolic and Molecular Bases of Inherited Disease, 8th edn. McGraw-Hill, New York, pp. 3163-3177.
12. Reiss, J. and Johnson, J.L. (2003) Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. Hum. Mutat., 21, 569-576.
13. Johnson, J.L., Coyne, K.E., Rajagopalan, K.V., Van Hove, J.L., Mackay, M., Pitt, J. and Boneh, A. (2001) Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. Am. J. Med. Genet., 104, 169-173.
14. Johnson, J.L., Rajagopalan, K.V. and Wadman, S.K. (1993) Human molybdenum cofactor deficiency. Adv. Exp. Med. Biol., 338, 373-378.
15. Hoff, T., Schnorr, K.M., Meyer, C. and Caboche, M. (1995) Isolation of two Arabidopsis cDNAs involved in early steps of molybdenum cofactor biosynthesis by functional complementation of Escherichia coli mutants. J. Biol. Chem., 270, 6100-6107.
16. Gray, T.A. and Nicholls, R.D. (2000) Diverse splicing mechanisms fuse the evolutionarily conserved bicistronic MOCS1A and MOCS1B open reading frames. RNA, 6, 928-936.
17. Hänzelmann, P., Schwarz, G. and Mendel, R.R. (2002) Functionality of alternative splice forms of the first enzymes involved in human molybdenum cofactor biosynthesis. J. Biol. Chem., 277, 18303-18312.
18. Gross-Hardt, S. and Reiss, J. (2002) The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons. Mol. Genet. Metab., 76, 340-343.
19. Wuebbens, M.M. and Rajagopalan, K.V. (1993) Structural characterization of a molybdopterin precursor. J. Biol. Chem., 201, 13493-13498.
20. Johnson, J.L., Wuebbens, M.M., Mandell, R. and Shih, V.E. (1989) Molybdenum cofactor biosynthesis in humans. Identification of two complementation groups of cofactor-deficient patients and preliminary characterization of a diffusible molybdopterin precursor. J. Clin. Invest., 83, 897-903.
21. Reiss, J., Dorche, C., Stallmeyer, B., Mendel, R.R., Cohen, N. and Zabot, M.T. (1999) Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. Am. J. Hum. Genet., 64, 706-711.
22. Reiss, J., Gross-Hardt, S., Christensen, E., Schmidt, P., Mendel, R.R. and Schwarz, G. (2001) A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. Am. J. Hum. Genet., 68, 208-213.
23. Johnson, J.L., Wuebbens, M.M. and Rajagopalan, K.V. (1989) The structure of a molybdopterin precursor. Characterization of a stable, oxidized derivative. J. Biol. Chem., 264, 13440-13447.
24. Johnson, J.L. and Rajagopalan, K.V. (1993) Molybdopterin biosynthesis in man. Properties of the converting factor in liver tissue from a molybdenum cofactor deficient patient. Adv. Exp. Med. Biol., 338, 379-382.
25. Lee, H.-J., Adham, I.M., Schwarz, G., Kneussel, M., Sass, J.O., Engel, W. and Reiss, J. (2002) Molybdenum cofactor-deficient mice resemble the phenotype of human patients. Hum. Mol. Gen., 11, 3309-3317.
26. Gutzke, G., Fischer, B., Mendel, R.R. and Schwarz, G. (2001) Thiocarboxylation of molybdopterin synthase provides evidence for the mechanism of dithiolene formation in metal-binding pterins. J. Biol. Chem., 276, 36268-36274.
27. Ono, H. and Ito, A. (1984) Transport of the precursor for sulfite oxidase into intermembrane space of liver mitochondria: characterization of import and processing activities. J. Biochem. (Tokyo), 95, 345-352.
28. Santamaria-Araujo, J.A., Fischer, B., Otte, T., Nimtz, M., Mendel, R.R., Wray, V. and Schwarz, G. (2004) The tetrahydropyranopterin structure of the sulfur- and metal-free molybdenum cofactor precursor. J. Biol. Chem., 279, 15994-15999.
29. Falciani, F., Ghezzi, P., Terao, M., Cazzaniga, G. and Garattini, E. (1992) Interferons induce xanthine dehydrogenase gene expression in L929 cells. Biochem. J., 285, 1001-1008.
30. Simmonds, H.A., Reiter, S. and Nishino, T. (1995) Hereditary xanthinuria. In Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), The Metabolic and Molecular Bases of Inherited Disease, 7th edn. McGraw-Hill, New York, pp. 1781-1797.
31. Vincent, A.S., Lim, B.G., Tan, J., Whiteman, M., Cheung, N.S., Halliwell, B. and Wong, K.P. (2004) Sulfite-mediated oxidative stress in kidney cells. Kidney Int, 65, 393-402.
32. Rivers, S.L., McNairn, E., Blasco, F., Giordano, G. and Boxer, D.H. (1993) Molecular genetic analysis of the moa operon of Escherichia coli K-12 required for molybdenum cofactor biosynthesis. Mol. Microbiol., 8, 1071-1081.
33. Reiss, J., Kleinhofs, A. and Klingmuller, W. (1987) Cloning of seven differently complementing DNA fragments with chl functions from Escherichia coli K12. Mol. Gen. Genet., 206, 352-355.
34. Leimkuhler, S. and Rajagopalan, K.V. (2001) A sulfur transferase is required in the transfer of cysteine sulfur in the in vitro synthesis of molybdopterin from precursor Z in Escherichia coli. J. Biol. Chem., 276, 22024-22031.
35. Nason, A., Lee, K.Y., Pan, S.S., Ketchum, P.A., Lamberti, A. and DeVries, J. (1971) Invitro formation of assimilatory reduced nicotinamide adenine dinucleotide phosphate: nitrate reductase from a Neurospora mutant and a component of molybdenum-enzymes. Proc. Natl Acad. Sci. USA, 68, 3242-3246.
36. Schwarz, G., Boxer, D.H. and Mendel, R.R. (1997) Molybdenum cofactor biosynthesis. The plant protein Cnx1 binds molybdopterin with high affinity. J. Biol. Chem., 272, 26811-26814.
37. Johnson, J.L., Rajagopalan, K.V., Lanman, J.T., Schutgens, R.B., van Gennip, A.H., Sorensen, P. and Applegarth, D.A. (1991) Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples. J. Inherit. Metab. Dis., 14, 932-937.
38. Mendel, R.R. and Müller, A.J. (1976) A common genetic determinant of xanthine dehydrogenase and nitrate reductase in Nicotiana tabacum. Biochem. Physiol. Pflanzen, 170, 538-541.
39. Koshiba, T., Saito, E., Ono, N., Yamamoto, N. and Sato, M. (1996) Purification and properties of flavin- and molybdenum containing aldehyde oxidase from coleoptyles of maize. Plant Physiol., 110, 781-789.