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Gene Review

BHMT  -  betaine--homocysteine S-methyltransferase

Homo sapiens

Synonyms: BHMT1, Betaine--homocysteine S-methyltransferase 1, HEL-S-61p
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Disease relevance of BHMT


High impact information on BHMT


Chemical compound and disease context of BHMT

  • To initiate X-ray crystallographic structural studies, we created a BHMT expression construct for use in Escherichia coli that has a polyhistidine purification tag with no extraneous protein, usually found in commercial vectors, between the tag and protein sequence [7].
  • Elevated levels of plasma homocysteine may be a risk factor for the development of vascular disease; however, whether BHMT has a significant role in the regulation of plasma levels of homocysteine remains to be determined [8].

Biological context of BHMT

  • Other SNPs in folate pathway genes were marginally significant in some analyses when stratified by maternal supplementation, MTHFR, or BHMT allele transmission.ConclusionsBHMT rs3733890 is significantly associated in our data set, whereas MTHFR rs1801133 is not a major risk factor [9].
  • RESULTS: In the overall sib-pair analysis, the LOD scores for BHMT, COL1A2 and CTSH were 0.7, 0.2 and -0.7, whereas in the large family these numbers were -0.6, -2.2 and -2.7, respectively [10].
  • METHODS: genetic linkage analysis was performed with DNA markers in the region of BHMT, COL1A2 and CTSH [10].
  • Partial amino acid sequence of porcine BHMT was obtained, and inosine-containing redundant oligonucleotide primers were used to amplify an 815-base pair sequence of the porcine cDNA by polymerase chain reaction (PCR) [2].
  • The human PCR DNA product was then used to screen a cDNA library by plaque hybridization, and cDNAs encoding human BHMT were isolated [2].

Anatomical context of BHMT

  • Since genetic variants in folate-dependent remethylation have been reported to increase risk for cardiovascular disease and other common disorders, we screened BHMT for sequence changes that might alter risk for coronary artery disease (CAD) [11].
  • Immunohistochemical staining for BHMT in human, pig, and rat liver indicate high expression in hepatocytes [12].
  • Porcine pancreas, brain, heart, lung, and spleen were devoid of BHMT activity and immunodetectable protein [13].
  • BHMT was expressed in the kidney cortex and not the medulla [13].
  • Human pancreas, brain, heart, skeletal muscle, spleen, and placenta were devoid of BHMT mRNA [13].

Associations of BHMT with chemical compounds


Regulatory relationships of BHMT


Other interactions of BHMT


Analytical, diagnostic and therapeutic context of BHMT


  1. Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts? Zhu, H., Curry, S., Wen, S., Wicker, N.J., Shaw, G.M., Lammer, E.J., Yang, W., Jafarov, T., Finnell, R.H. Am. J. Med. Genet. A (2005) [Pubmed]
  2. Purification, kinetic properties, and cDNA cloning of mammalian betaine-homocysteine methyltransferase. Garrow, T.A. J. Biol. Chem. (1996) [Pubmed]
  3. Betaine-homocysteine methyltransferase (BHMT): genomic sequencing and relevance to hyperhomocysteinemia and vascular disease in humans. Heil, S.G., Lievers, K.J., Boers, G.H., Verhoef, P., den Heijer, M., Trijbels, F.J., Blom, H.J. Mol. Genet. Metab. (2000) [Pubmed]
  4. Synthesis of betaine-homocysteine S-methyltransferase is continuously enhanced in fatty livers of thyroidectomized chickens. Shibata, T., Akamine, T., Nikki, T., Yamashita, H., Nobukuni, K. Poult. Sci. (2003) [Pubmed]
  5. Homocysteine metabolism in ZDF (type 2) diabetic rats. Wijekoon, E.P., Hall, B., Ratnam, S., Brosnan, M.E., Zeisel, S.H., Brosnan, J.T. Diabetes (2005) [Pubmed]
  6. Interaction between dietary methionine and methyl donor intake on rat liver betaine-homocysteine methyltransferase gene expression and organization of the human gene. Park, E.I., Garrow, T.A. J. Biol. Chem. (1999) [Pubmed]
  7. Expression of recombinant human betaine: homocysteine S-methyltransferase for x-ray crystallographic studies and further characterization of interaction with S-adenosylmethionine. Bose, N., Greenspan, P., Momany, C. Protein Expr. Purif. (2002) [Pubmed]
  8. Isolation and characterization of a mouse betaine-homocysteine S-methyltransferase gene and pseudogene. Neece, D.J., Griffiths, M.A., Garrow, T.A. Gene (2000) [Pubmed]
  9. Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. Boyles, A.L., Billups, A.V., Deak, K.L., Siegel, D.G., Mehltretter, L., Slifer, S.H., Bassuk, A.G., Kessler, J.A., Reed, M.C., Nijhout, H.F., George, T.M., Enterline, D.S., Gilbert, J.R., Speer, M.C. Environ. Health Perspect. (2006) [Pubmed]
  10. Genetic linkage of candidate genes in families with abdominal aortic aneurysms? van Vlijmen-van Keulen, C.J., Vahl, A.C., Hennekam, R.C., Rauwerda, J.A., Pals, G. European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery. (2003) [Pubmed]
  11. Investigations of a common genetic variant in betaine-homocysteine methyltransferase (BHMT) in coronary artery disease. Weisberg, I.S., Park, E., Ballman, K.V., Berger, P., Nunn, M., Suh, D.S., Breksa, A.P., Garrow, T.A., Rozen, R. Atherosclerosis (2003) [Pubmed]
  12. Immunohistochemical detection of betaine-homocysteine S-methyltransferase in human, pig, and rat liver and kidney. Delgado-Reyes, C.V., Wallig, M.A., Garrow, T.A. Arch. Biochem. Biophys. (2001) [Pubmed]
  13. Betaine-homocysteine methyltransferase expression in porcine and human tissues and chromosomal localization of the human gene. Sunden, S.L., Renduchintala, M.S., Park, E.I., Miklasz, S.D., Garrow, T.A. Arch. Biochem. Biophys. (1997) [Pubmed]
  14. Betaine-homocysteine methyltransferase-2: cDNA cloning, gene sequence, physical mapping, and expression of the human and mouse genes. Chadwick, L.H., McCandless, S.E., Silverman, G.L., Schwartz, S., Westaway, D., Nadeau, J.H. Genomics (2000) [Pubmed]
  15. Dissecting the catalytic mechanism of betaine-homocysteine S-methyltransferase by use of intrinsic tryptophan fluorescence and site-directed mutagenesis. Castro, C., Gratson, A.A., Evans, J.C., Jiracek, J., Collinsová, M., Ludwig, M.L., Garrow, T.A. Biochemistry (2004) [Pubmed]
  16. Random mutagenesis of the zinc-binding motif of betaine-homocysteine methyltransferase reveals that Gly 214 is essential. Breksa, A.P., Garrow, T.A. Arch. Biochem. Biophys. (2002) [Pubmed]
  17. Hepatic transmethylation and blood alcohol levels. Barak, A.J., Beckenhauer, H.C., Tuma, D.J. Alcohol Alcohol. (1991) [Pubmed]
  18. Homocysteine catabolism: levels of 3 enzymes in cultured human vascular endothelium and their relevance to vascular disease. Wang, J., Dudman, N.P., Wilcken, D.E., Lynch, J.F. Atherosclerosis (1992) [Pubmed]
  19. Liver choline dehydrogenase and kidney betaine-homocysteine methyltransferase expression are not affected by methionine or choline intake in growing rats. Slow, S., Garrow, T.A. J. Nutr. (2006) [Pubmed]
  20. Common genetic polymorphisms affect the human requirement for the nutrient choline. da Costa, K.A., Kozyreva, O.G., Song, J., Galanko, J.A., Fischer, L.M., Zeisel, S.H. FASEB J. (2006) [Pubmed]
  21. Proteome analysis of human hepatocellular carcinoma tissues by two-dimensional difference gel electrophoresis and mass spectrometry. Liang, C.R., Leow, C.K., Neo, J.C., Tan, G.S., Lo, S.L., Lim, J.W., Seow, T.K., Lai, P.B., Chung, M.C. Proteomics (2005) [Pubmed]
  22. Crystallization and preliminary X-ray crystallographic studies of recombinant human betaine-homocysteine S-methyltransferase. Bose N, n.u.l.l., Momany C, n.u.l.l. Acta Crystallogr. D Biol. Crystallogr. (2001) [Pubmed]
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