Document Detail

Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders.
MedLine Citation:
PMID:  8968737     Owner:  NLM     Status:  MEDLINE    
Methionine synthase catalyzes the remethylation of homocysteine to methionine in a methylcobalamin-dependent reaction. We used specific regions of homology within the methionine synthase sequences of several lower organisms to clone a human methionine synthase cDNA by a combination of RT-PCR and inverse PCR. The enzyme is 1265 amino acids in length and contains the seven residue structure-based sequence fingerprint identified for cobalamin-containing enzymes. The gene was localized to chromosome 1q43 by the FISH technique. We have identified one missense mutation and a 3 bp deletion in patients of the cblG complementation group of inherited homocysteine/folate disorders by SSCP and sequence analysis, as well as an amino acid substitution present in high frequency in the general population. We discuss the possibility that a mild deficiency of methionine synthase activity could be associated with mild hyperhomocysteinemia, a risk factor for cardiovascular disease and possibly neural tube defects.
D Leclerc; E Campeau; P Goyette; C E Adjalla; B Christensen; M Ross; P Eydoux; D S Rosenblatt; R Rozen; R A Gravel
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human molecular genetics     Volume:  5     ISSN:  0964-6906     ISO Abbreviation:  Hum. Mol. Genet.     Publication Date:  1996 Dec 
Date Detail:
Created Date:  1997-03-14     Completed Date:  1997-03-14     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9208958     Medline TA:  Hum Mol Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  1867-74     Citation Subset:  IM    
MRC Group in Medical Genetics, Department of Pediatrics, McGill University, Montreal, Quebec, Canada.
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MeSH Terms
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / genetics*,  metabolism
Amino Acid Metabolism, Inborn Errors / genetics*,  metabolism
Amino Acid Sequence
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 1*
Cloning, Molecular
DNA, Complementary / genetics*,  isolation & purification
Homocysteine / blood*
Molecular Sequence Data
Sequence Alignment
Vitamin B 12 / genetics,  metabolism*
Reg. No./Substance:
0/DNA, Complementary; 454-28-4/Homocysteine; 68-19-9/Vitamin B 12; EC S-Methyltransferase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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