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Abstract:

Gene expression and DNA repair are fundamental processes for life. During the last decade, accumulating experimental evidence point towards different modes of coupling between these processes. Here we discuss the molecular mechanisms by which RNAPII-dependent transcription affects repair by the Nucleotide Excision Repair system (NER) and how NER activity, through the generation of single stranded DNA intermediates and activation of the DNA damage response kinase ATR, drives gene expression in a genotoxic scenario. Since NER-dependent repair is compromised in Xeroderma Pigmentosum (XP) patients, and having in mind that these patients present a high degree of clinical heterogeneity, we speculate that some of the clinical features of XP patients can be explained by misregulation of gene expression. © 2018, © 2018 Taylor & Francis Group, LLC.

Registro:

Documento: Artículo
Título:Coupling between nucleotide excision repair and gene expression
Autor:Adrián E., C.B.; Muñoz, J.C.; Muñoz, M.J.
Filiación:Instituto de Fisiología, Biología Molecular y Neurociencias (IFIBYNE-UBA-CONICET) and Departamento de Fisiología, Biología Molecular y Celular, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Ciudad Universitaria, Buenos Aires, Argentina
Fondazione Istituto FIRC di Oncologia Molecolare (IFOM), Milan, Italy
Palabras clave:Gene expression; Nucleotide Excision Repair; UV light; Xeroderma Pigmentosum; single stranded DNA; ATM protein; ATR protein, human; DNA helicase; RNA polymerase II; single stranded DNA; Article; clinical feature; DNA damage response; DNA repair; DNA replication; excision repair; gene expression; human; interactions with DNA; phenotype; xeroderma pigmentosum; Cockayne syndrome; DNA damage; enzymology; gene expression; genetic transcription; genetics; metabolism; mutation; physiology; radiation response; skin; ultraviolet radiation; Ataxia Telangiectasia Mutated Proteins; Cockayne Syndrome; DNA Damage; DNA Helicases; DNA Repair; DNA, Single-Stranded; Gene Expression; Humans; Mutation; RNA Polymerase II; Skin; Transcription, Genetic; Ultraviolet Rays; Xeroderma Pigmentosum
Año:2018
Volumen:15
Número:7
Página de inicio:845
Página de fin:848
DOI: http://dx.doi.org/10.1080/15476286.2018.1464354
Título revista:RNA Biology
Título revista abreviado:RNA Biol.
ISSN:15476286
CAS:DNA helicase; transcriptional regulator ATRX; Werner syndrome ATP dependent helicase; Ataxia Telangiectasia Mutated Proteins; ATR protein, human; DNA Helicases; DNA, Single-Stranded; RNA Polymerase II
Registro:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_15476286_v15_n7_p845_AdrianE

Referencias:

  • Harlen, K.M., Churchman, L.S., The code and beyond: transcription regulation by the RNA polymerase II carboxy-terminal domain (2017) Nat Rev Mol Cell Biol, 18, pp. 263-273
  • Muñoz, M., de la Mata, M., Kornblihtt, A., The carboxy terminal domain of RNA polymerase II and alternative splicing (2010) Trends in biochemical sciences, 35, pp. 497-504
  • Muñoz, M., Pérez Santangelo, M., Paronetto, M., DNA damage regulates alternative splicing through inhibition of RNA polymerase II elongation (2009) Cell, 137, pp. 708-720. , et al
  • Nouspikel, T., DNA repair in mammalian cells: Nucleotide excision repair: variations on versatility (2009) Cellular and molecular life sciences: CMLS, 66, pp. 994-1009
  • Anindya, R., Mari, P.-O., Kristensen, U., A ubiquitin-binding domain in Cockayne syndrome B required for transcription-coupled nucleotide excision repair (2010) Molecular cell, 38, pp. 637-648. , et al
  • Marteijn, J.A., Lans, H., Vermeulen, W., Understanding nucleotide excision repair and its roles in cancer and ageing (2014) Nat Rev Mol Cell Biol, 15, pp. 465-481. , et al
  • Compe, E., Egly, J.-M., TFIIH: when transcription met DNA repair (2012) Nat Rev Mol Cell Biol, 13, pp. 343-354
  • Le May, M.-F.D., Velez-Cruz, R., Iltis, I., NER factors are recruited to active promoters and facilitate chromatin modification for transcription in the absence of exogenous genotoxic attack (2010) Mol Cell, 38, pp. 54-66. , et al
  • Gyenis, A., Umlauf, D., Ujfaludi, Z., UVB induces a genome-wide acting negative regulatory mechanism that operates at the level of transcription initiation in human cells (2014) PLoS Genet, 10, p. e1004483. , et al
  • Fong, Y.W., Cattoglio, C., Tjian, R., The intertwined roles of transcription and repair proteins (2013) Mol Cell, 52, pp. 291-302
  • Hanawalt, P., Spivak, G., Transcription-coupled DNA repair: two decades of progress and surprises (2008) Nat Rev Mol Cell Biol, 9, pp. 958-970
  • Mouret, S., Charveron, M., Favier, A., Differential repair of UVB-induced cyclobutane pyrimidine dimers in cultured human skin cells and whole human skin (2008) DNA Repair (Amst), 7, pp. 704-712. , et al
  • D'Errico, M., Teson, M., Calcagnile, A., Differential role of transcription-coupled repair in UVB-induced response of human fibroblasts and keratinocytes (2005) Cancer Res, 65, pp. 432-438. , et al
  • D'Errico, M., Lemma, T., Calcagnile, A., Cell type and DNA damage specific response of human skin cells to environmental agents (2007) Mutat Res, 614, pp. 37-47. , et al
  • Munoz, M.J., Nieto Moreno, N., Giono, L.E., Major Roles for Pyrimidine Dimers, Nucleotide Excision Repair, and ATR in the Alternative Splicing Response to UV Irradiation (2017) Cell Rep, 18, pp. 2868-2879. , et al
  • Tresini, M., Warmerdam, D.O., Kolovos, P., The core spliceosome as target and effector of non-canonical ATM signalling (2015) Nature, 523, pp. 53-58. , et al
  • Hanasoge, S., Ljungman, M., H2AX phosphorylation after UV irradiation is triggered by DNA repair intermediates and is mediated by the ATR kinase (2007) Carcinogenesis, 28, pp. 2298-2304
  • Marteijn, J.A., Bekker-Jensen, S., Mailand, N., Nucleotide excision repair-induced H2A ubiquitination is dependent on MDC1 and RNF8 and reveals a universal DNA damage response (2009) J Cell Biol, 186, pp. 835-847. , et al
  • Matsumoto, M., Yaginuma, K., Igarashi, A., Perturbed gap-filling synthesis in nucleotide excision repair causes histone H2AX phosphorylation in human quiescent cells (2007) J Cell Sci, 120, pp. 1104-1112. , et al
  • Stiff, T., Walker, S.A., Cerosaletti, K., ATR-dependent phosphorylation and activation of ATM in response to UV treatment or replication fork stalling (2006) EMBO J, 25, pp. 5775-5782. , et al
  • Vrouwe, M.G., Pines, A., Overmeer, R.M., UV-induced photolesions elicit ATR-kinase-dependent signaling in non-cycling cells through nucleotide excision repair-dependent and -independent pathways (2011) J Cell Sci, 124, pp. 435-446. , et al
  • Kumar, A., Mazzanti, M., Mistrik, M., ATR mediates a checkpoint at the nuclear envelope in response to mechanical stress (2014) Cell, 158, pp. 633-646. , et al
  • Toledo, L.I., Murga, M., Gutierrez-Martinez, P., ATR signaling can drive cells into senescence in the absence of DNA breaks (2008) Genes Dev, 22, pp. 297-302. , et al
  • Awasthi, P., Foiani, M., Kumar, A., ATM and ATR signaling at a glance (2015) J Cell Sci, 128, pp. 4255-4262
  • Hilton, B.A., Li, Z., Musich, P.R., ATR Plays a Direct Antiapoptotic Role at Mitochondria, which Is Regulated by Prolyl Isomerase Pin1 (2016) Mol Cell, 61, p. 487. , et al
  • Matsuoka, S., Ballif, B.A., Smogorzewska, A., ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage (2007) Science, 316, pp. 1160-1166. , et al
  • Mu, J.J., Wang, Y., Luo, H., A proteomic analysis of ataxia telangiectasia-mutated (ATM)/ATM-Rad3-related (ATR) substrates identifies the ubiquitin-proteasome system as a regulator for DNA damage checkpoints (2007) J Biol Chem, 282, pp. 17330-17334. , et al
  • Paulsen, R.D., Soni, D.V., Wollman, R., A genome-wide siRNA screen reveals diverse cellular processes and pathways that mediate genome stability (2009) Mol Cell, 35, pp. 228-239. , et al
  • Marini, F., Nardo, T., Giannattasio, M., DNA nucleotide excision repair-dependent signaling to checkpoint activation (2006) Proc Natl Acad Sci U S A, 103, pp. 17325-17330. , et al
  • Godon, C., Mourgues, S., Nonnekens, J., Generation of DNA single-strand displacement by compromised nucleotide excision repair (2012) EMBO J, 31, pp. 3550-3563. , et al
  • DiGiovanna, J.J., Kraemer, K.H., Shining a light on xeroderma pigmentosum (2012) J Invest Dermatol, 132, pp. 785-796
  • Bukowska, B., Karwowski, B.T., Actual state of knowledge in the field of diseases related with defective nucleotide excision repair (2018) Life Sci, 195, pp. 6-18
  • Bartkowiak, B., Liu, P., Phatnani, H.P., CDK12 is a transcription elongation-associated CTD kinase, the metazoan ortholog of yeast Ctk1 (2010) Genes Dev, 24, pp. 2303-2316. , et al

Citas:

---------- APA ----------
Adrián E., C.B., Muñoz, J.C. & Muñoz, M.J. (2018) . Coupling between nucleotide excision repair and gene expression. RNA Biology, 15(7), 845-848.
http://dx.doi.org/10.1080/15476286.2018.1464354
---------- CHICAGO ----------
Adrián E., C.B., Muñoz, J.C., Muñoz, M.J. "Coupling between nucleotide excision repair and gene expression" . RNA Biology 15, no. 7 (2018) : 845-848.
http://dx.doi.org/10.1080/15476286.2018.1464354
---------- MLA ----------
Adrián E., C.B., Muñoz, J.C., Muñoz, M.J. "Coupling between nucleotide excision repair and gene expression" . RNA Biology, vol. 15, no. 7, 2018, pp. 845-848.
http://dx.doi.org/10.1080/15476286.2018.1464354
---------- VANCOUVER ----------
Adrián E., C.B., Muñoz, J.C., Muñoz, M.J. Coupling between nucleotide excision repair and gene expression. RNA Biol. 2018;15(7):845-848.
http://dx.doi.org/10.1080/15476286.2018.1464354