NDLI: Polymorphisms in Promoter Sequences of the p15 INK4B and PTEN Genes of Normal Japanese Individuals

Content Provider	Springer Nature Link
Author	Ohsaka, Yasuhito Yogosawa, Shingo Nakanishi, Ryoko Sakai, Toshiyuki Nishi, Hoyoku
Copyright Year	2010
Abstract	Gene promoter regions of p15INK4B, 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.
Starting Page	970
Ending Page	986
Page Count	17
File Format	PDF
ISSN	00062928
Journal	Biochemical Genetics
Volume Number	48
Issue Number	11-12
e-ISSN	15734927
Language	English
Publisher	Springer US
Publisher Date	2010-09-23
Publisher Place	Boston
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Normal individuals p15INK4B Promoter polymorphism PTEN Transcription Medical Microbiology Zoology Biochemistry Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Medicine Biochemistry Molecular Biology Ecology, Evolution, Behavior and Systematics

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