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dc.contributor.authorVågbø, Cathrine Broberg
dc.contributor.authorMonies, Dorota
dc.contributor.authorAl-Owain, Mohammad
dc.contributor.authorAlhomaidi, Suzan
dc.contributor.authorAlkuraya, Fowzan S.
dc.date.accessioned2019-09-17T06:53:18Z
dc.date.available2019-09-17T06:53:18Z
dc.date.created2019-06-25T14:44:42Z
dc.date.issued2019
dc.identifier.citationAmerican Journal of Human Genetics. 2019, 104 (6), 1202-1209.nb_NO
dc.identifier.issn0002-9297
dc.identifier.urihttp://hdl.handle.net/11250/2617090
dc.description.abstractThe wobble hypothesis was proposed to explain the presence of fewer tRNAs than possible codons. The wobble nucleoside position in the anticodon stem-loop undergoes a number of modifications that help maintain the efficiency and fidelity of translation. AlkB homolog 8 (ALKBH8) is an atypical member of the highly conserved AlkB family of dioxygenases and is involved in the formation of mcm5s2U, (S)-mchm5U, (R)-mchm5U, mcm5U, and mcm5Um at the anticodon wobble uridines of specific tRNAs. In two multiplex consanguineous families, we identified two homozygous truncating ALKBH8 mutations causing intellectual disability. Analysis of tRNA derived from affected individuals showed the complete absence of these modifications, consistent with the presumptive loss of function of the variants. Our results highlight the sensitivity of the brain to impaired wobble modification and expand the list of intellectual-disability syndromes caused by mutations in genes related to tRNA modification.nb_NO
dc.language.isoengnb_NO
dc.publisherElseviernb_NO
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internasjonal*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/deed.no*
dc.titleRecessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modificationnb_NO
dc.typeJournal articlenb_NO
dc.typePeer reviewednb_NO
dc.description.versionacceptedVersionnb_NO
dc.source.pagenumber1202-1209nb_NO
dc.source.volume104nb_NO
dc.source.journalAmerican Journal of Human Geneticsnb_NO
dc.source.issue6nb_NO
dc.identifier.doi10.1016/j.ajhg.2019.03.026
dc.identifier.cristin1707697
dc.description.localcode© 2019. This is the authors’ accepted and refereed manuscript to the article. Locked until 6.12.2019 due to copyright restrictions. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0nb_NO
cristin.unitcode194,65,15,0
cristin.unitnameInstitutt for klinisk og molekylær medisin
cristin.ispublishedtrue
cristin.fulltextoriginal
cristin.qualitycode2


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Attribution-NonCommercial-NoDerivatives 4.0 Internasjonal
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