Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency

Nature Genetics

Volumn 20, Issue 1, 1998, Pages 51-53

  Reiss, Jochen ^a   Cohen, Nadine ^b   Dorche, Claude ^c   Mandel, Hanna ^b   Mendel, Ralf R ^d   Stallmeyer, Birgit ^d   Zabot, Marie Therese ^c   Dierks, Thomas ^e  

^a Institut fur Humangenetik   (Germany)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c HÔPITAL DEBROUSSE   (France)

^d TECHNICAL UNIVERSITY OF BRAUNSCHWEIG   (Germany)

^e UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MOLYBDENUM; MOLYBDENUM COFACTOR; UNCLASSIFIED DRUG;

ARTICLE; BACTERIAL GENE; CONTROLLED STUDY; ENZYME DEFICIENCY; ESCHERICHIA COLI; FACE DYSMORPHIA; GENE MUTATION; HUMAN; HYPOURICEMIA; MOLYBDENUM COFACTOR DEFICIENCY; OPEN READING FRAME; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SEIZURE;

AMINO ACID SEQUENCE; BASE SEQUENCE; COENZYMES; CONSERVED SEQUENCE; FEMALE; HUMANS; MALE; METABOLISM, INBORN ERRORS; METALLOPROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; OPEN READING FRAMES; PEDIGREE; PTERIDINES; RNA, MESSENGER; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0031716129     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/1706     Document Type: Article

References (17)

1. Rajagopalan, K.V. & Johnson, J.L. The pterin molybdenum cofactors. J. Biol. Chem. 267, 10199-10202 (1992).
2. Reiss, J., Kleinhofs, A. & Klingmüller W. Cloning of seven differently complementing DNA fragments with chl functions from Escherichia coli K12. Mol. Gen. Genet. 206, 352-355 (1987).
3. Rivers, S.L., McMairn, E., Blasco, F., Giordano, G. & Boxer, D.H. Molecular genetic analysis of the moa operon of Escherichia coli K-12 required for molybdenum cofactor biosynthesis. Molec. Microbiol. 8, 1071-1081 (1993).
4. Hoff, T., Schnorr, K.M., Meyer, C. & Caboche, M. 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 (1995).
5. Johnson, J.L., Wuebbens, M.M., Mandell, R. & Shih, V.E. Molybdenum cofactor biosynthesis in humans. J. Clin. Invest. 83, 897-903 (1989).
6. Johnson, J.L. & Wadman, S.K. in The Metabolic and Molecular Bases of Inherited Disease. (eds Scriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D.) 2271-2283 (McGraw-Hill, New York, 1995).
7. Wuebbens, M.M. & Rajagopalan, K.V. Investigation of the early steps of molybdopterin biosynthesis in Escherichia coli through the use of in vivo labeling studies. J. Biol. Chem. 270, 1082-1087 (1995).
8. Irby, R.B. & Adair, W.L. Jr. Intermediates in the folic acid biosynthetic pathway are incorporated into molybdopterin the yeast, Pichia canadensis. J. Biol. Chem. 269, 23981-23987 (1994).
9. Shalata, A. et al. 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 (1998).
10. Menendez, C., Siebert, D. & Brandsch, R. MoaA of Arthrobacter nicotinovorans pAO1 involved in Mo-pterin cofactor synthesis is an Fe-S protein. FEBS Lett. 391, 101-103 (1996).
11. Lee, S.-J. Expression of growth/differentiation factor 1 in the nervous system: Conservation of a bicistronic structure. Proc. Natl Acad. Sci. USA 88, 4250-4254 (1991).
12. Szabo, G., Katarova, Z. & Greenspan, R. Distinct protein forms are produced from alternatively spliced bicistronic glutamic acid decarboxylase mRNAs during development. Mol. Cell. Biol. 14, 7535-7545 (1994).
13. Bouhidel, K., Terzian, C. & Pinon. H. The full-length transcript of the I factor, a LINE element of Drosophila melanogaster, is a potential bicistronic RNA messenger. Nucleic Acids Res. 22, 2370-2374 (1994).
14. Brogna, S. & Ashburner, M. The Adh-related gene of Drosophila melanogaster is expressed as a functional dicistronic messenger RNA: multigenic transcription in higher organisms. EMBO J. 16, 2023-2031 (1997).
15. Kozak, M. The scanning model for translation: An update. J. Cell Biol. 108, 229-241 (1989).
16. Kozak, M. Effects of intercistronic length on the efficiency of reinitiation by eukaryotic ribosomes. Mol. Cell. Biol. 7, 3438-3445 (1987).
17. Grant, C.M., Miller, P.F. & Hinnebusch, A. G. Requirements for intercistronic distance and level of eukaryotic initiation factor 2 activity in reinitiation on GCN4 mRNA vary with the downstream cistron. Mol. Cell. Biol. 14, 2616-2628 (1994).