期刊
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
卷 16, 期 10, 页码 23545-23555出版社
MDPI AG
DOI: 10.3390/ijms161023545
关键词
microRNA; synonymous SNP; functionality
资金
- National Nature Science Foundation of China [91339106, 81422006]
- National Basic Research program of China [2012CB517506]
- National High Technology Research and Development Program of China [2014AA021102]
Historically, owing to not changing amino acid composition of protein sequences, synonymous mutations are commonly assumed to be neutral during evolution and therefore have no effect on the phenotype and disease. Here, based on observations from large-scale analysis of genomic data, we predicted the putative synonymous SNPs that could result in functional consequences and disease risk through changing the microRNA-mediated gene regulation. We found that nearly half of the synonymous SNPs could affect protein expression by changing microRNA regulation in human genome and these SNPs significantly prefer to be associated with human diseases and traits. The synonymous SNPs changing microRNA-mediated gene regulation tend to be more under recent positive selection, prefer to affect gene expression, and implicate in human disease. We conclude that the miRNA-mediated regulation changes could be a potential mechanism for the contributions of synonymous SNPs to protein functions and disease risks.
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