Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A

Human Genetics

Volumn 103, Issue 6, 1998, Pages 639-644

  Reiss, Jochen ^a   Christensen, Ernst ^b   Kurlemann, Gerhard ^c   Zabot, Marie Therese ^d   Dorche, Claude ^d  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b University of Copenhagen   (Denmark)

^c UNIVERSITY OF MÜNSTER   (Germany)

^d HÔPITAL DEBROUSSE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ENZYME; MOLYBDENUM; MOLYBDENUM COFACTOR; PTERIN DERIVATIVE; SULFITE OXIDASE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BIOSYNTHESIS; CISTRON; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; FRAMESHIFT MUTATION; GENE STRUCTURE; HUMAN; HUMAN CELL; MISSENSE MUTATION; MOLYBDENUM COFACTOR DEFICIENCY; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PRIORITY JOURNAL; SEIZURE;

AMINO ACID SEQUENCE; COENZYMES; EUROPE; EXONS; GENES, RECESSIVE; GENETIC COMPLEMENTATION TEST; GENETIC SCREENING; HETEROZYGOTE; HOMOZYGOTE; HUMANS; ISRAEL; METABOLISM, INBORN ERRORS; METALLOPROTEINS; MOLECULAR SEQUENCE DATA; MOLYBDENUM; MUTATION; NUCLEAR PROTEINS; PTERIDINES; RNA SPLICING;

EID: 0032436716     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050884     Document Type: Article

References (14)

1. Bonioli E, DiStefano A, Palmieri A, Bertola A, Bellini C, Caruso U, Fantasia AR, Minniti G, Dorche C (1996) Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor. J Inherit Metab Dis 19:700-701
2. Duran M, Beemer FA, Heiden C van der, Korteland J, Bree PK de, Brink M, Wadman SK, 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
3. Gray RGF, Green A, Basu SN, Constantine G, Condie RG, Dorche C, Vianey-Liaud C, Desjacques P (1990) Antenatal diagnosis of molybdenum cofactor deficiency. Am J Obstet Gynecol 163:1203-1204
4. Hansen LK, Wulff K, Dorche C, Christensen E (1993) Molybdenum cofactor deficiency in two siblings: diagnostic difficulties. Eur J Pediatr 152:662-664
5. Johnson JL, Wadman SK (1995) Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th edn. McGraw-Hill, New York, pp 2271-2283
6. Johnson JL, Waud WR, Rajagopalan KV, Duran M, Beemer FA, Wadman SK (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
7. Johnson JL, Wuebbens MM, Mandell R, Shih VE (1989) Molybdenum cofactor biosynthesis in humans. J Clin Invest 83:897-903
8. Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-54
9. Menendez C, Siebert D, Brandsch R (1996) MoaA of Arthrobacter nicotinovorans pAO1 involved in Mo-pterin cofactor synthesis is an Fe-S protein. FEBS Lett 391:101-103
10. Parini R, Brisciolo V, Caruso U, Dorcje C, Fortuna R, Minniti G, Selicorni A, Vismara E, Mancini G (1997) Spherophakia associated with molybdenum cofactor deficiency. Am J Med Genet 73:272-275
11. Rajagopalan KV, Johnson JL (1992) The pterin molybdenum cofactors. J Biol Chem 267:10199-10202
12. Reiss J, Cohen N, Dorche C, Mandel H, Mendel RR, Stallmeyer B, Zabot MT, Dierks T (1998) A polycistronic nuclear gene is defective in molybdenum cofactor deficiency. Nat Genet 20:51-53
13. Shalata A, Mandel H, Reiss J, Szargel R, Dorche C, Zabot MT, Van Gennip A, Abeling N, Berant M, Cohen-Akenine A, Cohen N (1998) Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping. Am J Hum Genet 63:148-154
14. Wolff JA (1997) Naked DNA transport and expression in mammalian cells. Neuromuscul Dis 7:314-318