[Functional implications of single nucleotide polymorphisms (SNPs) in protein-coding and non-coding RNA genes in
Julián Ramírez-Bello1, Mayra Jiménez-Morales1
1Unidad de Investigación en Enfermedades y Metabólicas, Hospital Juárez de México, Ciudad de México, México.
Gaceta Medica De Mexico
|May 6, 2017
Summary
Single nucleotide polymorphisms (SNPs) are common genetic variations. Functional SNPs in coding and non-coding RNA genes significantly impact biological processes and multifactorial diseases.
Area of Science:
- Genetics
- Molecular Biology
- Genomics
Background:
- Single nucleotide polymorphisms (SNPs) are the most frequent human genome variations.
- SNPs can be neutral, having no effect, or functional, influencing biological processes and disease risk.
- Functional SNPs are crucial for understanding multifactorial diseases.
Purpose of the Study:
- To review the functional roles of SNPs in protein-coding and non-coding RNA genes.
- To elucidate the relationship between these SNPs and multifactorial diseases.
- To update readers on recent findings in SNP functional characterization.
Main Methods:
- Classification of SNPs based on their location (protein-coding vs. non-coding RNA genes) and effect (neutral vs. functional).
- Categorization of functional SNPs into regulatory SNPs (rSNPs) and structural RNA SNPs (srSNPs), including microRNA-related variants (miR-rSNPs, miR-srSNPs).
- Analysis of SNP impact on gene expression, RNA splicing, translation, stability, protein structure/function, and miRNA-mRNA interactions.
Main Results:
- Regulatory SNPs (rSNPs) in gene promoters affect gene expression.
- Structural RNA SNPs (srSNPs) impact RNA processing, protein attributes, and molecular interactions.
- MicroRNA-related SNPs (miR-rSNPs, miR-srSNPs) influence miRNA processing, structure, and target interactions.
- Functional characterization of risk alleles aids in understanding complex disease mechanisms.
Conclusions:
- Functional SNPs in coding and non-coding RNAs play significant roles in multifactorial diseases.
- Understanding SNP function is key to unraveling disease etiology.
- This review provides an updated perspective on the functional impact of SNPs in health and disease.
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