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Genomic Medicine

, Volume 1, Issue 1–2, pp 29–33

First Online: 30 January 2007Received: 15 September 2006Accepted: 14 December 2006DOI: 10.1007-s11568-006-9000-3

Cite this article as: Chuzhanova, N., Cooper, D.N., Férec, C. et al. HUGO J 2007 1: 29. doi:10.1007-s11568-006-9000-3


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.

KeywordsCis-acting regulatory elements Human inherited disease MicroRNA MiRNA target site mutation 3′ Untranslated region 3′ UTR AbbreviationsLASLeft arm of the ‹spacer’ sequence between the upstream core polyadenylation signal and the pre-mRNA cleavage site


UCPASUpstream core polyadenylation signal

USSUpstream sequence between the translational termination codon and the UCPAS

3′ UTR3′ Untranslated region

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Author: Nadia Chuzhanova - David N. Cooper - Claude Férec - Jian-Min Chen



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