ヨゴサワ　シンゴ   YOGOSAWA Shingo   与五沢　真吾    所属   埼玉医科大学  保健医療学部 臨床検査学科    職種   准教授
論文種別	学術雑誌(原著)
言語種別	英語
査読の有無	査読あり
表題	Polymorphisms in Promoter Sequences of the p15(INK4B) and PTEN Genes of Normal Japanese Individuals
掲載誌名	正式名：BIOCHEMICAL GENETICS ISSNコード：0006-2928
出版社	SPRINGER/PLENUM PUBLISHERS
巻・号・頁	48(11-12),970-986頁
著者・共著者	Yasuhito Ohsaka,Shingo Yogosawa,Ryoko Nakanishi,Toshiyuki Sakai,Hoyoku Nishino
発行年月	2010/12
概要	Gene promoter regions of p15(INK4B), a cyclin-dependent kinase inhibitor, and phosphatase and tensin homolog (PTEN), a dual-function protein and lipid phosphatase, interact with regulatory factors for gene transcription and methylation. Normal individuals exhibit sequence polymorphisms in these regulatory genes. We isolated genomic DNA from whole blood of healthy Japanese individuals and sequenced promoter regions of the p15 (INK4B) and PTEN genes. We also examined the influence of polymorphisms on promoter activity in several cell lines. We identified polymorphisms at positions -699, -394, and -242 and an insertion at position -320 in the p15 (INK4B) gene and a polymorphism at position -1142 in the PTEN gene. Reporter gene analysis revealed that these polymorphisms influenced transcriptional regulation in their cell lines. Our results indicate for the first time that promoter sequences of the p15 (INK4B) and PTEN genes differ among normal Japanese individuals and that promoter polymorphisms can influence gene transcription.
DOI	10.1007/s10528-010-9379-3
PMID	20862607