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Genetic variability of microRNA regulome in human

Jana Obsteter1, Peter Dovc1, Tanja Kunej1

  • 1University of Ljubljana, Biotechnical Faculty, Department of Animal Science Groblje 3, 1230, Domzale, Slovenia.

Molecular Genetics & Genomic Medicine
|January 29, 2015
PubMed

Insights

This study catalogs genetic variants in microRNA (miRNA) silencing machinery and miRNA genes, providing a resource for understanding disease and traits. The findings aid in developing biomarkers by exploring polymorphic miRNA regulome.

Area of Science:

  • Molecular Biology
  • Genetics
  • Bioinformatics

Background:

  • MicroRNAs (miRNAs) are key post-transcriptional regulators.
  • miRNA biogenesis involves Drosha-DGCR8 and Dicer cleavage.
  • Genetic variants in the miRNA regulome impact gene expression and phenotype.

Purpose of the Study:

  • To systematically review and categorize genetic variants within the human miRNA regulome.
  • To focus on polymorphisms in miRNA silencing machinery (miR-SM-SNPs) and miRNA genes.
  • To develop comprehensive catalogs of these genetic variations for research.

Main Methods:

  • Literature review and bioinformatics tool analysis.
  • Categorization of polymorphisms into four types: miR-SNPs, miR-rSNPs, miR-TS-SNPs, and miR-SM-SNPs.
  • Creation of two specific catalogs for genetic variability in DROSHA, DGCR8, DICER1, and miRNA cleavage sites.

Main Results:

  • Organized existing knowledge on polymorphic miRNA regulome into four categories.
  • Developed two novel catalogs detailing genetic variability in miRNA silencing machinery genes (DROSHA, DGCR8, DICER1) and miRNA cleavage sites.
  • Established an online resource for accessing these polymorphism catalogs.

Conclusions:

  • The developed catalogs provide a valuable resource for studying the functional impact of genetic variants in miRNA biogenesis.
  • This resource will facilitate further research into disease mechanisms and the development of diagnostic biomarkers.
  • The systematic collection of miR-SM-SNPs addresses a gap in current research on miRNA genetic variations.
Keywords:
BiogenesisDicerDroshahumanmicroRNA (miRNA)polymorphisms

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