Single nucleotide polymorphism associated with mature miR-125a alters the processing of pri-miRNA
Abstract
MicroRNAs (miRNAs) are small non-coding RNAs that inhibit expression of specific target genes at the post-transcriptional level. Sequence variations in miRNA genes, including pri-miRNAs, pre-miRNAs and mature miRNAs, could potentially influence the processing and/or target selection of miRNAs. In this study, we have systematically identified single nucleotide polymorphisms (SNPs) associated with 227 known human miRNAs. Among 323 total SNPs that we identify, 12 are located within the miRNA precursor and one is at the eighth nucleotide (+8) of the mature miR-125a, which has been proposed to play a critical role in recognition of mRNA targets by miRNAs. Through a series of in vivo analyses, we unexpectedly find that this miR-125a SNP significantly blocks the processing of pri-miRNA to pre-miRNA, in addition to reducing miRNA-mediated translational suppression. Thus, our study reveals an additional structural requirement for pri-miRNA processing and emphasizes the importance of identifying new miRNA SNPs and their contributions to miRNA biogenesis and human genetic disease.
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Common SNPs within miRNA genes can lead to impaired miRNA processing and might be associated with increased susceptibility to human diseases.
“Other studies have reported that common SNPs within miRNA genes can lead to impaired miRNA processing, and might be associated with increased susceptibility to human diseases (23–25).”
From A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing (2012) · cites this paper as [23]
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Mfold web server for nucleic acid folding and hybridization prediction
Zuker, M. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg595 · Cited by 13,404 · see citing works
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Soldà, G., Robusto, M., Primignani, P., Castorina, P., Benzoni, E., Cesarani, A., Ambrosetti, U., Asselta, R., & Duga, S. (2012) · Human Molecular Genetics · doi:10.1093/hmg/ddr493 · Cited by 102 · see citing works
Xu, Y., Liu, H., Li, F., Sun, N., Ren, Y., Liu, Z., Cao, X., Wang, Y., Liu, P., & Zhang, K. (2010) · Journal of Affective Disorders · doi:10.1016/j.jad.2010.05.019 · Cited by 99 · see citing works
- Authors
- Duan, R., Pak, C., & Jin, P.
- Affiliations
- Emory University (US)
- Corresponding author
- Jin, Peng
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2007-03-30
- Volume
- 16
- Issue
- 9
- Pages
- 1124-1131
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2100092338
- Cited by
- 497
- References
- 1
- Citations by year
- 2026: 2 · 2025: 5 · 2024: 10 · 2023: 11 · 2022: 11 · 2021: 15 · 2020: 12 · 2019: 14 · 2018: 31 · 2017: 31 · 2016: 31 · 2015: 30 · 2014: 38 · 2013: 49 · 2012: 37
- FWCI
- 13.21
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- HighWire Press Open Archive (submittedVersion)
- Funders
- National Institutes of Health
- National Institute of Mental Health (R01MH076090)
- National Institute of Neurological Disorders and Stroke (R01NS051630)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › MicroRNA in disease regulation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA regulation and disease
- Keywords
- single nucleotide polymorphisms, microRNA, miR-125a, pri-miRNA processing, microRNA precursors, microRNA biogenesis, miRNA target recognition, translational suppression, genetic disorders
- MeSH terms
- Base Sequence, Cell Line, Humans, Molecular Sequence Data, Nucleic Acid Conformation, RNA Precursors, RNA Processing, Post-Transcriptional, Protein Biosynthesis, Blotting, Northern, Reverse Transcriptase Polymerase Chain Reaction, Polymorphism, Single Nucleotide, MicroRNAs
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