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Journal home Advance online publication Current issue Archive Press releases Free Association (blog) Supplements Focuses Guide to authors Online submission For referees Free online issue Contact the journal Subscribe Advertising work@npg Reprints and permissions About this site For librarians   NPG Resources Nature Nature Biotechnology Nature Cell Biology Nature Medicine Nature Methods Nature Reviews Cancer Nature Reviews Genetics Nature Reviews Molecular Cell Biology news@nature.com Nature Conferences RNAi Gateway NPG Subject areas Biotechnology Cancer Chemistry Clinical Medicine Dentistry Development Drug Discovery Earth Sciences Evolution & Ecology Genetics Immunology Materials Science Medical Research Microbiology Molecular Cell Biology Neuroscience Pharmacology Physics Browse all publications Letter Nature Genetics  20, 51 - 53 (1998) doi:10.1038/1706 Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency Jochen Reiss1, Nadine Cohen2, Claude Dorche3, Hanna Mandel4, Ralf R. Mendel5, Birgit Stallmeyer5, Marie-Therese Zabot3 & Thomas Dierks6 1  Institut für Humangenetik Gosslerstrasse 12d, D-37073 Göttingen, Germany. 6  Abteilung Biochemie II der Universität, Gosslerstrasse 12d, D-37073 Göttingen, Germany. 2  Department of Genetics, Tamkin Human Molecular Genetics Research Facility, Technion-Israel Institute of Technology, P.O.B. 9649, Bat-Galim, 31096 Haifa, Israel. 4  Department of Pediatrics, Rambam Medical Center, Technion-Israel Institute of Technology, P.O.B. 9649, Bat-Galim, 31096 Haifa, Israel. 3  Hopital Debrousse, Service de Biochimie, 69322 Lyon Cedex 05, France. 5  Botanisches Institut der Technischen Universität , Humboldtstrasse 1, D-38106 Braunschweig , Germany. Correspondence should be addressed to Jochen Reiss jreiss@gwdg.deAll molybdoenzymes other than nitrogenase require molybdopterin as a metal-binding cofactor1. Several genes necessary for the synthesis of the molybdenum cofactor (MoCo) have been characterized in bacteria2, 3 and plants4. The proteins encoded by the Escherichia coli genes moaA and moaC catalyse the first steps in MoCo synthesis. The human homologues of these genes are therefore candidate genes for molybdenum cofactor deficiency, a rare and fatal disease5. Using oligonucleotides complementary to a conserved region in the moaA gene, we have isolated a human cDNA derived from liver mRNA. This transcript contains an open reading frame (ORF) encoding the human moaA homologue and a second ORF encoding a human moaC homologue. Mutations can be found in the majority of MoCo-deficient patients that confirm the functional role of both ORFs in the corresponding gene MOCS1 (for `molybdenum cofactor synthesis-step 1'). Northern-blot analysis detected only full-length transcripts containing both consecutive ORFs in various human tissues. The mRNA structure suggests a translation reinitiation mechanism for the second ORF. These data indicate the existence of a eukaryotic mRNA, which as a single and uniform transcript guides the synthesis of two different enzymatic polypeptides with disease-causing potential.  Top Abstract Previous | Next Table of contents Full text Download PDF Send to a friend Save this link Open Innovation Challenges Direct Molecular Detection of Proteins and Nucleic Acids Deadline: Dec 02 2009 Reward: $5,000 USD This Challenge is looking for novel approaches to protein and nucleic acid detection. This is an Id... Optimizing Sub-cellular Localization Tags Deadline: Jan 31 2010 Reward: $20,000 USD The Seeker is looking for methods to optimize sub-cellular localization tags for protein expression.... More Challenges Powered by: nature jobs Group Leader Positions IMP Vienna Austria Faculty Position in Chromosome and Cell Cycle Research OMRF Oklahoma City, OK 73104, United States More science jobs Post a job for free Figures & Tables Export citation Search buyers guide:   ADVERTISEMENT

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