3′ UTR Mutations and Human Disorders


The 3′ untranslated region (3′ UTR) of a number of messenger ribonucleic acids (mRNAs) is involved in the regulation of the processing, localization, translation or degradation of the transcript. Perturbations in such 3′ UTR‐mediated functions are implicated in a variety of human diseases.

Keywords: mRNA processing; mRNA translation; mRNA degradation; 3′ untranslated region; posttranscriptional control; human diseases; mRNA stability; trans‐acting factors; cis‐acting determinants


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Web Links

CCND1 (cyclin D1 (PRAD1: parathyroid adenomatosis 1)); LocusID: 595. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=595

DMPK (dystrophia myotonica‐protein kinase); LocusID: 1760. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1760

FCMD (Fukuyama type congenital muscular dystrophy (fukutin)); LocusID: 2218. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2218

TP53 (tumor protein p53 (Li‐Fraumeni syndrome)); LocusID: 7157. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7157

CCND1 (cyclin D1 (PRAD1: parathyroid adenomatosis 1)); MIM number: 168461. OMIM: http://www3.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?168461

DMPK (dystrophia myotonica‐protein kinase); MIM number: 605377. OMIM: http://www3.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?605377

FCMD (Fukuyama type congenital muscular dystrophy (fukutin)); MIM number: 253800. OMIM: http://www3.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?253800

TP53 (tumor protein p53 (Li–Fraumeni syndrome)); MIM number: 191170. OMIM: http://www3.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?191170

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Conne, Béatrice, Stutz, André, and Vassalli, Jean‐Dominique(Jan 2006) 3′ UTR Mutations and Human Disorders. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005502]