An expanded CAG repeat in Huntingtin Causes +1 frameshifting

Show simple item record

dc.contributor.author Saffert, Paul
dc.contributor.author Adamla, Frauke
dc.contributor.author Schieweck, Rico
dc.contributor.author Atkins, John F.
dc.contributor.author Ignatova, Zoya
dc.date.accessioned 2018-03-28T14:33:15Z
dc.date.available 2018-03-28T14:33:15Z
dc.date.issued 2016-07-05
dc.identifier.citation Saffert, P., Adamla, F., Schieweck, R., Atkins, J. F. and Ignatova, Z. (2016) 'An Expanded CAG Repeat in Huntingtin Causes +1 Frameshifting', Journal of Biological Chemistry, 291(35), pp. 18505-18513. doi: 10.1074/jbc.M116.744326 en
dc.identifier.volume 291 en
dc.identifier.issued 35 en
dc.identifier.startpage 18505 en
dc.identifier.endpage 18513 en
dc.identifier.issn 1083-351X
dc.identifier.uri http://hdl.handle.net/10468/5713
dc.identifier.doi 10.1074/jbc.M116.744326
dc.description.abstract Maintenance of triplet decoding is crucial for the expression of functional protein because deviations either into the −1 or +1 reading frames are often non-functional. We report here that expression of huntingtin (Htt) exon 1 with expanded CAG repeats, implicated in Huntington pathology, undergoes a sporadic +1 frameshift to generate from the CAG repeat a trans-frame AGC repeat-encoded product. This +1 recoding is exclusively detected in pathological Htt variants, i.e. those with expanded repeats with more than 35 consecutive CAG codons. An atypical +1 shift site, UUC C at the 5′ end of CAG repeats, which has some resemblance to the influenza A virus shift site, triggers the +1 frameshifting and is enhanced by the increased propensity of the expanded CAG repeats to form a stem-loop structure. The +1 trans-frame-encoded product can directly influence the aggregation of the parental Htt exon 1. en
dc.description.sponsorship Deutsche Forschungsgemeinschaft (Grants FOR 1805 and SFB 740 ) en
dc.format.mimetype application/pdf en
dc.language.iso en en
dc.publisher American Society for Biochemistry and Molecular Biology en
dc.relation.uri http://www.jbc.org/content/291/35/18505.abstract
dc.rights © 2016 by The American Society for Biochemistry and Molecular Biology, Inc. This research was originally published in the Journal of Biological Chemistry. Saffert, P., Adamla, F., Schieweck, R., Atkins, J. F. and Ignatova, Z. An Expanded CAG Repeat in Huntingtin Causes +1 Frameshifting J. Biol. Chem. 2016; 291:pp 18505-18513 © the American Society for Biochemistry and Molecular Biology en
dc.subject Aggregation en
dc.subject Huntington disease en
dc.subject Translation en
dc.subject Translation regulation en
dc.subject Trinucleotide repeat disease en
dc.subject Frameshifting en
dc.subject Seeding en
dc.title An expanded CAG repeat in Huntingtin Causes +1 frameshifting en
dc.type Article (peer-reviewed) en
dc.internal.authorcontactother John Atkins, Biochemistry, University College Cork, Cork, Ireland. +353-21-490-3000 Email: j.atkins@ucc.ie en
dc.internal.availability Full text available en
dc.date.updated 2018-03-28T14:23:38Z
dc.description.version Published Version en
dc.internal.rssid 431673407
dc.contributor.funder Science Foundation Ireland en
dc.contributor.funder Deutsche Forschungsgemeinschaft en
dc.description.status Peer reviewed en
dc.identifier.journaltitle Journal of Biological Chemistry en
dc.internal.copyrightchecked No !!CORA!! en
dc.internal.licenseacceptance Yes en
dc.internal.IRISemailaddress j.atkins@ucc.ie en


Files in this item

This item appears in the following Collection(s)

Show simple item record

This website uses cookies. By using this website, you consent to the use of cookies in accordance with the UCC Privacy and Cookies Statement. For more information about cookies and how you can disable them, visit our Privacy and Cookies statement