Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency

Reiss J, Cohen N, Dorche C, Mandel H, Mendel RR, Stallmeyer B, Zabot MT, Dierks T (1998)
NATURE GENETICS 20(1): 51-53.

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Abstract
All molybdoenzymes other than nitrogenase require molyb-dopterin as a metal-binding cofactor(1). Several genes necessary for the synthesis of the molybdenum cofactor (MoCo) have been characterized in bacteria(2,3) and plants(4). 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 disease(5). 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.
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Reiss J, Cohen N, Dorche C, et al. Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. NATURE GENETICS. 1998;20(1):51-53.
Reiss, J., Cohen, N., Dorche, C., Mandel, H., Mendel, R. R., Stallmeyer, B., Zabot, M. T., et al. (1998). Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. NATURE GENETICS, 20(1), 51-53.
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. NATURE GENETICS 20, 51-53.
Reiss, J., et al., 1998. Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. NATURE GENETICS, 20(1), p 51-53.
J. Reiss, et al., “Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency”, NATURE GENETICS, vol. 20, 1998, pp. 51-53.
Reiss, J., Cohen, N., Dorche, C., Mandel, H., Mendel, R.R., Stallmeyer, B., Zabot, M.T., Dierks, T.: Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. NATURE GENETICS. 20, 51-53 (1998).
Reiss, J, Cohen, N, Dorche, C, Mandel, H, Mendel, RR, Stallmeyer, B, Zabot, MT, and Dierks, Thomas. “Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency”. NATURE GENETICS 20.1 (1998): 51-53.
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