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Single nucleotide polymorphism associated with mature miR-125a alters the processing of pri-miRNA

Ranhui Duan1, Changhui Pak, Peng Jin

  • 1Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.

Human Molecular Genetics
|April 3, 2007
PubMed

Insights

Single nucleotide polymorphisms (SNPs) in microRNA (miRNA) genes can affect gene expression. A specific SNP in miR-125a processing impacts pri-miRNA to pre-miRNA conversion and target recognition.

Area of Science:

  • Molecular Biology
  • Genetics
  • Biochemistry

Background:

  • MicroRNAs (miRNAs) are small non-coding RNAs regulating gene expression post-transcriptionally.
  • Sequence variations within miRNA genes (pri-miRNA, pre-miRNA, mature miRNA) can alter miRNA processing and target interactions.

Purpose of the Study:

  • To systematically identify single nucleotide polymorphisms (SNPs) in known human miRNA genes.
  • To investigate the functional impact of identified miRNA SNPs on miRNA biogenesis and function.

Main Methods:

  • Systematic identification of SNPs in 227 human miRNA genes.
  • In vivo analyses to assess the effect of a specific miR-125a SNP on pri-miRNA processing and miRNA-mediated translational suppression.

Main Results:

  • Identified 323 SNPs across 227 human miRNAs, with 12 in miRNA precursors and one in mature miR-125a.
  • The identified miR-125a SNP significantly inhibited pri-miRNA to pre-miRNA processing.
  • The miR-125a SNP also reduced miRNA-mediated translational suppression.

Conclusions:

  • Discovered a novel structural requirement for pri-miRNA processing.
  • Highlighted the significance of miRNA SNPs in influencing miRNA biogenesis.
  • Emphasized the role of miRNA SNPs in human genetic diseases.

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