NDLI: High CpG island methylation of p16 gene and loss of p16 protein expression associate with the development and progression of tetralogy of Fallot

Content Provider	Springer Nature Link
Author	GAO, SI JU ZHANG, GUI FANG ZHANG, RONG PENG
Copyright Year	2016
Abstract	We examined CpG island methylation in p16 gene and its effect on p16 protein expression in tetralogy of Fallot (ToF) patients to explore its potential implications in the development and progression of ToF. The study subjects consisted of 75 healthy controls and 63 ToF patients recruited at Linyi People’s Hospital between January 2012 and June 2014. The 4 mL of peripheral venous blood of each subject was obtained and saved in ethylene diamine tetraacetic acid (EDTA) tubes. Methylation-specific polymerase chain reaction (MSP) was employed to detect CpG island methylation in p16 promoter region and Western blotting was used to detect p16 expression of all subjects. Real-time fluorescence quantitative polymerase chain reaction (FQ-PCR) was performed to test p16 mRNA expression. The results showed that p16-methylation rates in ToF group were significantly higher than the control group (ToF group, 58.73%; control group, 13.33%; P < 0.001). Remarkably, Western blotting and FQ-PCR results derived from RVOT revealed that p16 protein expression was significantly lower in ToF group compared to the control group (0.76 ± 0.21 versus 2.31 ± 0.35; P < 0.001), and p16 gene expression was also markedly decreased in ToF group (1.212 ± 0.152 versus 1.346 ± 0.191, P < 0.001). Additionally, our analysis suggested that CpG island methylation in p16 promoters in ToF patients was negatively correlated with p16 protein and gene expression (both P < 0.05). Our study reports that high CpG island methylation of p16 gene and loss of p16 protein expression associate with the development and progression of ToF, which may have significant therapeutic applications for ToF.
Starting Page	831
Ending Page	837
Page Count	7
File Format	PDF
ISSN	00221333
Journal	Journal of Genetics
Volume Number	95
Issue Number	4
e-ISSN	09737731
Language	English
Publisher	Springer India
Publisher Date	2016-10-27
Publisher Institution	Indian Academy of Sciences
Publisher Place	New Delhi
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	tetralogy of Fallot p16 gene p16 protein CpG islands methylation promoter regions. Life Sciences Microbial Genetics and Genomics Plant Genetics & Genomics Animal Genetics and Genomics Evolutionary Biology
Content Type	Text
Resource Type	Article
Subject	Genetics

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