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Licensed Unlicensed Requires Authentication Published by De Gruyter January 27, 2014

Human dyskerin: beyond telomeres

  • Alberto Angrisani

    Alberto Angrisani graduated in Molecular and Industrial Biotechology at the University of Naples “Federico II” in 2007, with a dissertation on the transcriptional activity of the human DKC1 gene. In 2011 he received his PhD in Genetics and Molecular Medicine for the identification of new human DKC1 gene transcripts. At present he works as PostDoc in Prof. Furia’s laboratory. Up to the present day his research interests have been focused on the study of the role of snoRNAs and snoRNP complexes in development and cancerogenesis.

    , Rosario Vicidomini

    Rosario Vicidomini studied at the University of Naples Federico II and received his degree in Biology in 2010, with a dissertation on the applications of the laser microdissection technique to the study of developmental transcriptome. As a PhD student in Genetics and Molecular Medicine he studied the telomerase-independent roles of H/ACA snoRNPs, mainly using Drosophila as model system, under Prof. Furia’s supervision. In 2013, he spent a six-month stage in Annette’s Preiss lab (Stuttgard), studying the regulation of Notch signalling.

    , Mimmo Turano

    Mimmo Turano achieved a degree in Biological Sciences at the Faculty of Sciences of University of Naples “Federico II” in 1995. From 1995 to 2003 he focused his research activity mainly on the functional role of the frataxin in the pathogenesis of the Fried-reich ataxia disease, at the Department of Biology and Cellular and Molecular Pathology. From 2004 to 2006 his scientific interest turned mainly to the understanding of the role of HEXIM1 protein on the inhibition of the transcription elongation factor P-TEFb. Since 2006 he is Research Fellow at the Biology Department of University of Naples and joined Prof. Maria Furia’s laboratory, working on the molecular characterization of the DKC1 human gene.

    and Maria Furia

    Maria Furia graduated in Biology at the University of Naples Federico II in 1971. After fellowships at the Zoological Station Anton Dohrn (Naples), at the Imperial College (London), and at the Indiana University (Bloogmington), she became Associate Professor of Genetics at the University of Naples in 1985; Professor of Genetics since 2000, and Head of the Department of Genetics, General and Molecular Biology from 2001 to 2004. The work of her laboratory is concentrated on developmental biology, mainly using Drosophila as model system, and is presently specifically focussed on the study of biological functions carried out by snoRNPs in both Drosophila and man.

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From the journal Biological Chemistry

Abstract

Human dyskerin is an evolutively conserved protein that participates in diverse nuclear complexes: the H/ACA snoRNPs, that control ribosome biogenesis, RNA pseudouridylation, and stability of H/ACA snoRNAs; the scaRNPs, that control pseudouridylation of snRNAs; and the telomerase active holoenzyme, which safeguards telomere integrity. The biological importance of dyskerin is further outlined by the fact that its deficiency causes the X-linked dyskeratosis congenita disease, while its over-expression characterizes several types of cancers and has been proposed as prognostic marker. The role of dyskerin in telomere maintenance has widely been discussed, while its functions as H/ACA sno/scaRNP component has been so far mostly overlooked and represent the main goal of this review. Here we summarize how increasing evidence indicates that the snoRNA/microRNA pathways can be interlaced, and that dyskerin-dependent RNA pseudouridylation represents a flexible mechanism able to modulate RNA function in different ways, including modulation of splicing, change of mRNA coding properties, and selective regulation of IRES-dependent translation. We also propose a speculative model that suggests that the dynamics of pre-assembly and nuclear import of H/ACA RNPs are crucial regulatory steps that can be finely controlled in the cytoplasm in response to developmental, differentiative and stress stimuli.


Corresponding author: Maria Furia, Dipartimento di Biologia, Università di Napoli ‘Federico II’, via Cinthia, I-80126 Naples, Italy, email:
aThese authors contributed equally to this work.

About the authors

Alberto Angrisani

Alberto Angrisani graduated in Molecular and Industrial Biotechology at the University of Naples “Federico II” in 2007, with a dissertation on the transcriptional activity of the human DKC1 gene. In 2011 he received his PhD in Genetics and Molecular Medicine for the identification of new human DKC1 gene transcripts. At present he works as PostDoc in Prof. Furia’s laboratory. Up to the present day his research interests have been focused on the study of the role of snoRNAs and snoRNP complexes in development and cancerogenesis.

Rosario Vicidomini

Rosario Vicidomini studied at the University of Naples Federico II and received his degree in Biology in 2010, with a dissertation on the applications of the laser microdissection technique to the study of developmental transcriptome. As a PhD student in Genetics and Molecular Medicine he studied the telomerase-independent roles of H/ACA snoRNPs, mainly using Drosophila as model system, under Prof. Furia’s supervision. In 2013, he spent a six-month stage in Annette’s Preiss lab (Stuttgard), studying the regulation of Notch signalling.

Mimmo Turano

Mimmo Turano achieved a degree in Biological Sciences at the Faculty of Sciences of University of Naples “Federico II” in 1995. From 1995 to 2003 he focused his research activity mainly on the functional role of the frataxin in the pathogenesis of the Fried-reich ataxia disease, at the Department of Biology and Cellular and Molecular Pathology. From 2004 to 2006 his scientific interest turned mainly to the understanding of the role of HEXIM1 protein on the inhibition of the transcription elongation factor P-TEFb. Since 2006 he is Research Fellow at the Biology Department of University of Naples and joined Prof. Maria Furia’s laboratory, working on the molecular characterization of the DKC1 human gene.

Maria Furia

Maria Furia graduated in Biology at the University of Naples Federico II in 1971. After fellowships at the Zoological Station Anton Dohrn (Naples), at the Imperial College (London), and at the Indiana University (Bloogmington), she became Associate Professor of Genetics at the University of Naples in 1985; Professor of Genetics since 2000, and Head of the Department of Genetics, General and Molecular Biology from 2001 to 2004. The work of her laboratory is concentrated on developmental biology, mainly using Drosophila as model system, and is presently specifically focussed on the study of biological functions carried out by snoRNPs in both Drosophila and man.

Acknowledgments

This work was supported by University Federico II of Naples and by P.O.R. Campania FSE 2007–2013 Project CREMe, which supported Alberto Angrisani’s postdoctoral fellowship.

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Received: 2013-11-29
Accepted: 2014-1-24
Published Online: 2014-1-27
Published in Print: 2014-6-1

©2014 by Walter de Gruyter Berlin/Boston

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