caa a22 4500 397573863 CHVBK 20180308164849.0 cr unu---uuuuu 161202e199612 xx s 000 0 eng 10.1093/hmg/5.12.1851 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.12.1851 Cloning, Mapping and RNA Analysis of the Human Methionine Synthase Gene [Elektronische Daten] [Yunan N. Li, Sumedha Gulati, Priscilla J. Baker, Lawrence C. Brody, Ruma Banerjee, Warren D. Kruger] Elevated levels of plasma homocysteine is a risk factor in both birth defects and vascular disease. Methionine synthase (MS) is a cobalamin dependent enzyme which catalyzes methylation of homocysteine to methionine. Impaired MS activity is expected to lead to increased levels of plasma homocysteine. In addition, defects in this gene may underlie the methionine-dependence observed in a number of human tumor cell lines. We describe here the isolation and characterization of the human MS cDNA. It contains an open reading frame of 3798 nucleotides encoding a protein of 1265 amino acids with a predicted molecular mass of 140 kDa. The amino acid sequence of the human MS is 55% identical with that of the Escherichia coli enzyme (METH) and 64% identical with the predicted Caenorhabditis elegans enzyme. Seven peptide sequences derived from purified porcine MS have substantial similarity to the human protein. Northern analysis indicates that the MS RNA is present in a wide variety of tissues. We have mapped the human gene to chromosomal location 1q43, a region found monosomic in individuals with deletion 1q syndrome. The isolation of the MS cDNA will now allow the direct determination of whether mutations in this gene contribute to folate-related neural tube defects, cardiovascular diseases, and birth defects. © 1993 Oxford University Press Li Yunan N. Division of Population Science, Fox Chase Cancer Center, 7701 Burholme Avenue, Philadelphia PA, 19046, USA aut Gulati Sumedha Biochemistry Department, University of Nebraska, Lincoln, Nebraska 68588-0664, USA aut Baker Priscilla J. Laboratory of Gene Transfer, National Center for Human Genome Research NIH, Bethesda, MD 20892-4470, USA aut Brody Lawrence C. Laboratory of Gene Transfer, National Center for Human Genome Research NIH, Bethesda, MD 20892-4470, USA aut Banerjee Ruma Biochemistry Department, University of Nebraska, Lincoln, Nebraska 68588-0664, USA aut Kruger Warren D. Division of Population Science, Fox Chase Cancer Center, 7701 Burholme Avenue, Philadelphia PA, 19046, USA aut Human Molecular Genetics Oxford University Press 5/12(1996-12), 1851-1858 0964-6906 5:12<1851 1996 5 hmg https://doi.org/10.1093/hmg/5.12.1851 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.12.1851 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Li Yunan N. Division of Population Science, Fox Chase Cancer Center, 7701 Burholme Avenue, Philadelphia PA, 19046, USA aut NATIONALLICENCE 700 1- Gulati Sumedha Biochemistry Department, University of Nebraska, Lincoln, Nebraska 68588-0664, USA aut NATIONALLICENCE 700 1- Baker Priscilla J. Laboratory of Gene Transfer, National Center for Human Genome Research NIH, Bethesda, MD 20892-4470, USA aut NATIONALLICENCE 700 1- Brody Lawrence C. Laboratory of Gene Transfer, National Center for Human Genome Research NIH, Bethesda, MD 20892-4470, USA aut NATIONALLICENCE 700 1- Banerjee Ruma Biochemistry Department, University of Nebraska, Lincoln, Nebraska 68588-0664, USA aut NATIONALLICENCE 700 1- Kruger Warren D. Division of Population Science, Fox Chase Cancer Center, 7701 Burholme Avenue, Philadelphia PA, 19046, USA aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/12(1996-12), 1851-1858 0964-6906 5:12<1851 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford