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Published on: August 21, 2019
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Comprehensive analysis of single nucleotide polymorphisms in human microRNAs
1State Key Laboratory of Genetic Engineering and Institute of Developmental Biology and Molecular Medicine, School of Life Sciences, Fudan University, Shanghai, China.
Plos One
|November 14, 2013
Summary
This study identified 1899 single nucleotide polymorphisms (SNPs) in human microRNAs (miRNAs), revealing that miRNA conservation, structure, and function influence SNP distribution. SNP frequencies also correlate with population geography.
Area of Science:
- Genetics
- Molecular Biology
- Bioinformatics
Background:
- MicroRNAs (miRNAs) are crucial regulators of gene expression at the post-transcriptional level.
- Single Nucleotide Polymorphisms (SNPs) in miRNAs can disrupt their function and lead to diseases.
- Previous studies have identified SNPs in miRNA genes or mature miRNAs, but lacked comprehensive distribution analysis.
Purpose of the Study:
- To conduct a genome-wide scan for SNPs in human miRNA precursors.
- To systematically analyze the distribution and influencing factors of identified SNPs in human miRNAs.
- To investigate the relationship between SNP frequencies and human population geography.
Main Methods:
- Genome-wide scan for SNPs in human miRNA precursors.
- Systematic analysis of SNP distribution based on conservation, genomic context, secondary structure, and functional importance.
- Analysis of SNP frequency variations across populations using HapMap and 1000 Genomes Project data.
Main Results:
- Identified 1899 SNPs in 961 human miRNA precursors, representing the most complete list to date.
- Found that conservation, genomic context, secondary structure, and functional importance significantly affect SNP accumulation in miRNAs.
- Observed that SNP frequencies among populations align with their geographical distributions.
Conclusions:
- Human miRNA SNP distribution is influenced by intrinsic genetic and functional properties.
- SNP frequencies in miRNAs show geographical patterns reflecting human population diversity.
- This comprehensive analysis provides deeper insights into miRNA SNPs and their population-specific prevalence.
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