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A functional connection between dyskerin and energy metabolism

Lookup NU author(s): Dr Filippo Scialo



This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).


© 2017 The Authors The human DKC1 gene encodes dyskerin, an evolutionarily conserved nuclear protein whose overexpression represents a common trait of many types of aggressive sporadic cancers. As a crucial component of the nuclear H/ACA snoRNP complexes, dyskerin is involved in a variety of essential processes, including telomere maintenance, splicing efficiency, ribosome biogenesis, snoRNAs stabilization and stress response. Although multiple minor dyskerin splicing isoforms have been identified, their functions remain to be defined. Considering that low-abundance splice variants could contribute to the wide functional repertoire attributed to dyskerin, possibly having more specialized tasks or playing significant roles in changing cell status, we investigated in more detail the biological roles of a truncated dyskerin isoform that lacks the C-terminal nuclear localization signal and shows a prevalent cytoplasmic localization. Here we show that this dyskerin variant can boost energy metabolism and improve respiration, ultimately conferring a ROS adaptive response and a growth advantage to cells. These results reveal an unexpected involvement of DKC1 in energy metabolism, highlighting a previously underscored role in the regulation of metabolic cell homeostasis.

Publication metadata

Author(s): Angrisani A, Matrone N, Belli V, Vicidomini R, Di Maio N, Turano M, Scialo F, Netti PA, Porcellini A, Furia M

Publication type: Article

Publication status: Published

Journal: Redox Biology

Year: 2018

Volume: 14

Pages: 557-565

Online publication date: 06/11/2017

Acceptance date: 03/11/2017

Date deposited: 11/12/2017

ISSN (electronic): 2213-2317

Publisher: Elsevier BV


DOI: 10.1016/j.redox.2017.11.003


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Funder referenceFunder name
CUP B25B09000050007
CUP B25C13000240007
FSE 2007–2013
FESR 2007/2013