アリタ　ミチツネ   Arita Michitsune   有田　通恒    所属   東邦大学  医学部 医学科    職種   助教
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	A single nucleotide substitution (-107C G) in hMLH1 promoter found in colorectal cancer population reduces transcriptional activity
掲載誌名	正式名：Biochemical genetics 略　 称：Biochem Genet ISSNコード：00062928
掲載区分	国外
巻・号・頁	45(9-10),pp.671-681
著者・共著者	Zhong X†, Arita M†, Yamada K†, Sugiyama H, Tan K†, Kanazawa S, Koike J, Teramoto T, Hemmi, H＊†
担当区分	2nd著者
発行年月	2007/10
概要	Inactivation of the DNA mismatch repair gene hMLH1 predisposes one to colorectal cancer. We have identified a C to G nucleotide substitution at position -107 relative to the hMLH1 gene translation initiation site in three of 163 colorectal cancer patients with an allele frequency of 0.0092 (3/326). One of the three -107G alleles occurred in one patient out of five with reduced hMLH1 expression in the tumor tissue. The -107G was not found in 63 healthy individuals. This substitution reduced transcriptional activity by 51% compared with -107C (P<0.01) and impeded the promoter-binding capacity of nuclear proteins. Although the small number of identified -107G alleles is insufficient to evaluate the contribution to the carcinogenesis and clinicopathological properties of the tumors, the effects of -107G on hMLH1 gene transcription and nuclear protein binding to the promoter sequence implicate the site, including -107C, as a crucial element interacting with the activator that maintains hMLH1 gene expression.
文献番号	PMID: 17690979
researchmap用URL	https://researchmap.jp/0713/