Chuzhanova, Nadia, Cooper, David Neil  ORCID: https://orcid.org/0000-0002-8943-8484, Ferec, Claude and Chen, Jian-Min
2007.
Searching for potential microRNA-binding site mutations amongst known disease-associated 3' UTR variants.
Genomic Medicine
1
(1-2)
, pp. 29-33.
10.1007/s11568-006-9000-3
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Abstract
The 3' untranslated regions (3' UTRs) of human protein-coding genes play a pivotal role in the regulation of mRNA 3' end formation, stability/degradation, nuclear export, subcellular localisation and translation, and hence are particularly rich in cis-acting regulatory elements. One recent addition to the already large repertoire of known cis-acting regulatory elements are the microRNA (miRNA) target sites that are present in the 3' UTRs of many human genes. miRNAs post-transcriptionally down-regulate gene expression by binding to complementary sequences on their cognate target mRNAs, thereby inducing either mRNA degradation or translational repression. To date, only one disease-associated 3' UTR variant (in the SLITRK1 gene) has been reported to occur within a bona fide miRNA binding site. By means of sequence complementarity, we have performed the first systematic search for potential miRNA-target site mutations within a set of 79 known disease-associated 3' UTR variants. Since no variants were found that either disrupted or created binding sites for known human miRNAs, we surmise that miRNA-target site mutations are not likely to represent a frequent cause of human genetic disease. ORCIDs linked to this article
| Item Type: | Article |
|---|---|
| Date Type: | Publication |
| Status: | Published |
| Schools: | Medicine |
| Subjects: | Q Science > QH Natural history > QH426 Genetics |
| ISSN: | 1871-7934 |
| Related URLs: | |
| Last Modified: | 31 Oct 2022 10:14 |
| URI: | https://orca.cardiff.ac.uk/id/eprint/84101 |
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