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Titolo:
Identification of 197 genetic variations in six human methyltransferase genes in the Japanese population
Autore:
Saito, S; Iida, A; Sekine, A; Miura, Y; Sakamoto, T; Ogawa, C; Kawauchi, S; Higuchi, S; Nakamura, Y;
Indirizzi:
Univ Tokyo, Inst Med Sci, Mol Med Lab, Ctr Human Genome,Minato Ku, Tokyo 1088639, Japan Univ Tokyo Tokyo Japan 1088639 an Genome,Minato Ku, Tokyo 1088639, Japan Inst Phys & Chem Res, SNP Res Ctr, Lab Genotyping, Tokyo, Japan Inst Phys & Chem Res Tokyo Japan Res Ctr, Lab Genotyping, Tokyo, Japan
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 9, volume: 46, anno: 2001,
pagine: 529 - 537
SICI:
1434-5161(2001)46:9<529:IO1GVI>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
CATECHOL-O-METHYLTRANSFERASE; PHOSPHATIDYLETHANOLAMINE N-METHYLTRANSFERASE; SINGLE-NUCLEOTIDE POLYMORPHISMS; BREAST-CANCER RISK; DEFICIT HYPERACTIVITY DISORDER; 41 CANDIDATE GENES; INBORN ERROR; FUNCTIONAL POLYMORPHISM; RAT-LIVER; PHARMACOGENETICS;
Keywords:
single-nucleotide polymorphism (SNP); catechol-O-methyltransferase gene (COMT); guanidinoacetate N-methyltransferase gene (GAMT); histamine N-methyltransferase gene (HNMT) nicotinamide N-methyltransferasegene (NNMT) phosphatidylethanolamine N-methyltransferase gene (PEMT); phenylethanolamine N-methyltransferase gene (PNMT);
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
54
Recensione:
Indirizzi per estratti:
Indirizzo: Nakamura, Y Univ Tokyo, Inst Med Sci, Mol Med Lab, Ctr Human Genome,MinatoKu, 4-6-1 Shirokanedai, Tokyo 1088639, Japan Univ Tokyo 4-6-1 ShirokanedaiTokyo Japan 1088639 8639, Japan
Citazione:
S. Saito et al., "Identification of 197 genetic variations in six human methyltransferase genes in the Japanese population", J HUM GENET, 46(9), 2001, pp. 529-537

Abstract

Methylation is an important event in the biotransformation pathway for many drugs and xenobiotic compounds. We screened DNA from 48 Japanese individuals for single-nucleotide polymorphisms (SNPs) in six methyltransferase (MT) genes (catechol-O-MT, COMT, guanidinoacetate N-MT, GAMT; histamine N-MT, HNMT, nicotinamide N-MT, NNMT; phosphatidylethanolamine N-MT, PEMT; and phenylethanolamine N-MT, PNMT) by direct sequencing of their entire genomic regions except for repetitive elements. This approach identified 190 SNPs andseven insertion/deletion polymorphisms among the six genes. Of the 190 SNPs, 33 were identified in the COMT gene, 6 in GAMT, 41 in HNMT, 8 in NNMT, 98 in PEMT, and 4 in PNMT. Nine were located in 5' Ranking regions, 156 in introns, 10 in exons, and 15 in 3' flanking regions. These variants may contribute to a more precise understanding of possible correlations between genotypes and disease-susceptibility phenotypes or risk for side effects from drugs.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/01/20 alle ore 11:44:20