Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA

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Schertzer, Michael; Jouravleva, Karina; Perderiset, Mylène; Dingli, Florent; Loew, Damarys; Le Guen, Tangui; Bardoni, Barbara; De Villartay, Jean-Pierre; Revy, Patrick; Londono-Vallejo, Arturo;
  • Publisher: Oxford University Press
  • Journal: Nucleic Acids Research,volume 43,issue 3,pages1,834-1,847 (issn: 0305-1048, eissn: 1362-4962)
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  • Related identifiers: doi: 10.1093/nar/gku1402, pmc: PMC4330364
  • Subject: [ SDV.BBM ] Life Sciences [q-bio]/Biochemistry, Molecular Biology | RNA | [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology | [SDV.GEN]Life Sciences [q-bio]/Genetics | [ SDV.GEN ] Life Sciences [q-bio]/Genetics

International audience; Hoyeraal-Hreidarsson syndrome (HHS) is a severe form of Dyskeratosis congenita characterized by developmental defects, bone marrow failure and im-munodeficiency and has been associated with telom-ere dysfunction. Recently, mutations in Regulator ... View more
  • References (41)
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    2. Vannier,J.B., Pavicic-Kaltenbrunner,V., Petalcorin,M.I., Ding,H. and Boulton,S.J. (2012) RTEL1 dismantles T loops and counteracts telomeric G4-DNA to maintain telomere integrity. Cell, 149, 795-806.

    3. Vannier,J.B., Sandhu,S., Petalcorin,M.I., Wu,X., Nabi,Z., Ding,H. and Boulton,S.J. (2013) RTEL1 is a replisome-associated helicase that promotes telomere and genome-wide replication. Science, 342, 239-242.

    4. Uringa,E.J., Lisaingo,K., Pickett,H.A., Brind'Amour,J., Rohde,J.H., Zelensky,A., Essers,J. and Lansdorp,P.M. (2012) RTEL1 contributes to DNA replication and repair and telomere maintenance. Mol. Biol. Cell, 23, 2782-2792.

    5. Youds,J.L., Mets,D.G., McIlwraith,M.J., Martin,J.S., Ward,J.D., ONeil,N.J., Rose,A.M., West,S.C., Meyer,B.J. and Boulton,S.J. (2010) RTEL-1 enforces meiotic crossover interference and homeostasis. Science, 327, 1254-1258.

    6. Barber,L.J., Youds,J.L., Ward,J.D., McIlwraith,M.J., O'Neil,N.J., Petalcorin,M.I., Martin,J.S., Collis,S.J., Cantor,S.B., Auclair,M. et al. (2008) RTEL1 maintains genomic stability by suppressing homologous recombination. Cell, 135, 261-271.

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    8. Ballew,B.J., Joseph,V., De,S., Sarek,G., Vannier,J.B., Stracker,T., Schrader,K.A., Small,T.N., O'Reilly,R., Manschreck,C. et al. (2013) A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. PLoS Genet., 9, e1003695.

    9. Deng,Z., Glousker,G., Molczan,A., Fox,A.J., Lamm,N., Dheekollu,J., Weizman,O.E., Schertzer,M., Wang,Z., Vladimirova,O. et al. (2013) Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. Proc. Natl. Acad. Sci. U.S.A., 110, E3408-E3416.

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