Open Access
Nucleic Acids Research, volume 43, issue 3, pages 1834-1847
Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA
Schertzer Michael
1, 2, 3
,
Jouravleva Karina
1, 2, 3
,
PERDERISET Mylène
1, 2, 3
,
Dingli F.
4
,
Loew Damarys
4
,
Le Guen Tangui
5, 6
,
Bardoni B.
7, 8
,
Villartay Jean-Pierre de
5, 6
,
Revy Patrick
5, 6
,
Londono-Vallejo Arturo
1, 2, 3
2
3PSL Research University, Paris, France
|
3
1Telomeres & Cancer laboratory, CNRS, ‘Labellisé Ligue’, Institut Curie, 26 rue d'Ulm, Paris 75248, France
|
4
Laboratory of Proteomic Mass Spectrometry, Institut Curie, Paris, France
|
5
5INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Paris, France
|
6
6Université Sorbonne Paris Cité, Université Paris Descartes, Institut Imagine, Paris, France
|
7
7IPMC-CNRS UMR7275–Valbonne, France
|
8
8Université de Nice Sophia-Antipolis, Nice 06560, France
|
Publication type: Journal Article
Publication date: 2015-01-27
Journal:
Nucleic Acids Research
Quartile SCImago
Q1
Quartile WOS
Q1
Impact factor: 14.9
ISSN: 03051048, 13624962
PubMed ID:
25628358
Genetics
Abstract
Hoyeraal-Hreidarsson syndrome (HHS) is a severe form of Dyskeratosis congenita characterized by developmental defects, bone marrow failure and immunodeficiency and has been associated with telomere dysfunction. Recently, mutations in Regulator of Telomere ELongation helicase 1 (RTEL1), a helicase first identified in Mus musculus as being responsible for the maintenance of long telomeres, have been identified in several HHS patients. Here we show that RTEL1 is required for the export and the correct cytoplasmic trafficking of the small nuclear (sn) RNA pre-U2, a component of the major spliceosome complex. RTEL1-HHS cells show abnormal subcellular partitioning of pre-U2, defects in the recycling of ribonucleotide proteins (RNP) in the cytoplasm and splicing defects. While most of these phenotypes can be suppressed by re-expressing the wild-type protein in RTEL1-HHS cells, expression of RTEL1 mutated variants in immortalized cells provokes cytoplasmic mislocalizations of pre-U2 and other RNP components, as well as splicing defects, thus phenocopying RTEL1-HHS cellular defects. Strikingly, expression of a cytoplasmic form of RTEL1 is sufficient to correct RNP mislocalizations both in RTEL1–HHS cells and in cells expressing nuclear mutated forms of RTEL1. This work unravels completely unanticipated roles for RTEL1 in RNP trafficking and strongly suggests that defects in RNP biogenesis pathways contribute to the pathology of HHS.
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Schertzer M. et al. Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA // Nucleic Acids Research. 2015. Vol. 43. No. 3. pp. 1834-1847.
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Schertzer M., Jouravleva K., PERDERISET M., Dingli F., Loew D., Le Guen T., Bardoni B., Villartay J. D., Revy P., Londono-Vallejo A. Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA // Nucleic Acids Research. 2015. Vol. 43. No. 3. pp. 1834-1847.
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TY - JOUR
DO - 10.1093/nar/gku1402
UR - https://doi.org/10.1093%2Fnar%2Fgku1402
TI - Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA
T2 - Nucleic Acids Research
AU - Schertzer, Michael
AU - Jouravleva, Karina
AU - PERDERISET, Mylène
AU - Dingli, F.
AU - Loew, Damarys
AU - Le Guen, Tangui
AU - Bardoni, B.
AU - Villartay, Jean-Pierre de
AU - Revy, Patrick
AU - Londono-Vallejo, Arturo
PY - 2015
DA - 2015/01/27 00:00:00
PB - Oxford University Press
SP - 1834-1847
IS - 3
VL - 43
PMID - 25628358
SN - 0305-1048
SN - 1362-4962
ER -
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@article{2015_Schertzer,
author = {Michael Schertzer and Karina Jouravleva and Mylène PERDERISET and F. Dingli and Damarys Loew and Tangui Le Guen and B. Bardoni and Jean-Pierre de Villartay and Patrick Revy and Arturo Londono-Vallejo},
title = {Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA},
journal = {Nucleic Acids Research},
year = {2015},
volume = {43},
publisher = {Oxford University Press},
month = {jan},
url = {https://doi.org/10.1093%2Fnar%2Fgku1402},
number = {3},
pages = {1834--1847},
doi = {10.1093/nar/gku1402}
}
Cite this
MLA
Copy
Schertzer, Michael, et al. “Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA.” Nucleic Acids Research, vol. 43, no. 3, Jan. 2015, pp. 1834-1847. https://doi.org/10.1093%2Fnar%2Fgku1402.