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Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification

Nature Genetics volume 7, pages 195–200 (1994)Cite this article

An Erratum to this article was published on 01 August 1994

Abstract

Methylenetetrahydrofolate reductase (MTHFR) catalyses the reduction of methylenetetrahydrofolate to methyltetrahydrofolate, a cofactor for homocysteine methylation to methionine. MTHFR deficiency, an autosomal recessive disorder, results in homocysteinemia. Using degenerate oligonucleotides based on porcine peptide sequence data, we isolated a 90–bp cDNA by PCR from pig liver RNA. This cDNA was used to isolate a human cDNA, the predicted amino acid sequence of which shows strong homology to porcine MTHFR and to bacterial metF genes. The human gene has been localized to chromosome 1p36.3. Two mutations were identified in MTHFR–deficient patients: a missense mutation (Arg to Gin), in a residue conserved in bacterial enzymes, and a nonsense mutation (Arg to Ter).

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Authors and Affiliations

  1. Departments of Pediatrics, Human Genetics,

    Philippe Goyette, Renate Milos, David S. Rosenblatt & Rima Rozen

  2. Biology McGill University - Montreal Children's Hospital Research Institute, 2300 Tupper, Montreal, Quebec, H3H 1P3, Canada

    Philippe Goyette, Renate Milos, David S. Rosenblatt & Rima Rozen

  3. Biophysics Research Division and Department of Biological Chemistry, University of Michigan, Ann Arbor, Michigan, 48109–1055, USA

    James S. Sumner & Rowena G. Matthews

  4. Queen's University and Kingston General Hospital, Kingston, Ontario, K7L 2V7, Canada

    Alessandra M.V. Duncan

  5. Department of Medicine, McGill University, Montreal, Quebec, H3A 1A1, Canada

    David S. Rosenblatt

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  1. Philippe Goyette
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  7. Rima Rozen
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Goyette, P., Sumner, J., Milos, R. et al. Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. Nat Genet 7, 195–200 (1994). https://doi.org/10.1038/ng0694-195

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  • DOI: https://doi.org/10.1038/ng0694-195

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