Literature DB >> 26255937

Photosensitive human syndromes.

Graciela Spivak1, Philip C Hanawalt2.   

Abstract

Photosensitivity in humans can result from defects in repair of light-induced DNA lesions, from photoactivation of chemicals (including certain medications) with sunlight to produce toxic mediators, and by immune reactions to sunlight exposures. Deficiencies in DNA repair and the processing of damaged DNA during replication and transcription may result in mutations and genomic instability. We will review current understanding of photosensitivity to short wavelength ultraviolet light (UV) due to genetic defects in particular DNA repair pathways; deficiencies in some are characterized by an extremely high incidence of cancer in sun-exposed tissues, while in others no cancers have been reported.
Copyright © 2014 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  DNA repair; Global genomic repair; Photosensitivity; Skin cancer; Transcription-coupled repair

Mesh：

Year:  2014        PMID： 26255937      PMCID： PMC4531261          DOI： 10.1016/j.mrfmmm.2014.11.003

Source DB:  PubMed          Journal:  Mutat Res        ISSN： 0027-5107            Impact factor:   2.433


  57 in total

Review 1.  The complex choreography of transcription-coupled repair.

Authors:  Graciela Spivak; Ann K Ganesan
Journal:  DNA Repair (Amst)       Date:  2014-04-19

Review 2.  Cerebro-oculo-facio-skeletal syndrome.

Authors:  Hiroshi Suzumura; Osamu Arisaka
Journal:  Adv Exp Med Biol       Date:  2010       Impact factor: 2.622

3.  A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis.

Authors:  Laura J Niedernhofer; George A Garinis; Anja Raams; Astrid S Lalai; Andria Rasile Robinson; Esther Appeldoorn; Hanny Odijk; Roos Oostendorp; Anwaar Ahmad; Wibeke van Leeuwen; Arjan F Theil; Wim Vermeulen; Gijsbertus T J van der Horst; Peter Meinecke; Wim J Kleijer; Jan Vijg; Nicolaas G J Jaspers; Jan H J Hoeijmakers
Journal:  Nature       Date:  2006-12-21       Impact factor: 49.962

4.  UV-sensitive syndrome.

Authors:  Graciela Spivak
Journal:  Mutat Res       Date:  2005-09-04       Impact factor: 2.433

5.  A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.

Authors:  Tiziana Nardo; Roberta Oneda; Graciela Spivak; Bruno Vaz; Laurent Mortier; Pierre Thomas; Donata Orioli; Vincent Laugel; Anne Stary; Philip C Hanawalt; Alain Sarasin; Miria Stefanini
Journal:  Proc Natl Acad Sci U S A       Date:  2009-03-27       Impact factor: 11.205

6.  Cockayne syndrome complementation group B associated with xeroderma pigmentosum phenotype.

Authors:  T Itoh; J E Cleaver; M Yamaizumi
Journal:  Hum Genet       Date:  1996-02       Impact factor: 4.132

7.  Specific UV-induced mutation spectrum in the p53 gene of skin tumors from DNA-repair-deficient xeroderma pigmentosum patients.

Authors:  N Dumaz; C Drougard; A Sarasin; L Daya-Grosjean
Journal:  Proc Natl Acad Sci U S A       Date:  1993-11-15       Impact factor: 11.205

8.  Three DNA polymerases, recruited by different mechanisms, carry out NER repair synthesis in human cells.

Authors:  Tomoo Ogi; Siripan Limsirichaikul; René M Overmeer; Marcel Volker; Katsuya Takenaka; Ross Cloney; Yuka Nakazawa; Atsuko Niimi; Yoshio Miki; Nicolaas G Jaspers; Leon H F Mullenders; Shunichi Yamashita; Maria I Fousteri; Alan R Lehmann
Journal:  Mol Cell       Date:  2010-03-12       Impact factor: 17.970

Review 9.  DNA repair diseases: What do they tell us about cancer and aging?

Authors:  Carlos Fm Menck; Veridiana Munford
Journal:  Genet Mol Biol       Date:  2014-03       Impact factor: 1.771

Review 10.  Human premature aging, DNA repair and RecQ helicases.

Authors:  Robert M Brosh; Vilhelm A Bohr
Journal:  Nucleic Acids Res       Date:  2007-11-15       Impact factor: 16.971
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  9 in total

Review 1.  R-loop generation during transcription: Formation, processing and cellular outcomes.

Authors:  Boris P Belotserkovskii; Silvia Tornaletti; Alicia D D'Souza; Philip C Hanawalt
Journal:  DNA Repair (Amst)       Date:  2018-08-25

Review 2.  Photobiological Origins of the Field of Genomic Maintenance.

Authors:  Ann Ganesan; Philip Hanawalt
Journal:  Photochem Photobiol       Date:  2015-12-16       Impact factor: 3.421

Review 3.  Strategic role of the ubiquitin-dependent segregase p97 (VCP or Cdc48) in DNA replication.

Authors:  Kristijan Ramadan; Swagata Halder; Katherine Wiseman; Bruno Vaz
Journal:  Chromosoma       Date:  2016-04-18       Impact factor: 4.316

Review 4.  Nucleotide excision repair in humans.

Authors:  Graciela Spivak
Journal:  DNA Repair (Amst)       Date:  2015-09-10

Review 5.  Transcription-coupled repair: an update.

Authors:  Graciela Spivak
Journal:  Arch Toxicol       Date:  2016-08-22       Impact factor: 5.153

Review 6.  Collaboration of MLLT1/ENL, Polycomb and ATM for transcription and genome integrity.

Authors:  Ayako Ui; Akira Yasui
Journal:  Nucleus       Date:  2016-04-25       Impact factor: 4.197

Review 7.  Xeroderma Pigmentosum: A Model for Human Premature Aging.

Authors:  Elizabeth R H Rizza; John J DiGiovanna; Sikandar G Khan; Deborah Tamura; Jack D Jeskey; Kenneth H Kraemer
Journal:  J Invest Dermatol       Date:  2021-01-09       Impact factor: 8.551

8.  Modulation of UVB-induced Carcinogenesis by Activation of Alternative DNA Repair Pathways.

Authors:  Yan Sha; Vladimir Vartanian; Nichole Owen; Stephanie J Mengden Koon; Marcus J Calkins; Courtney S Thompson; Zahra Mirafzali; Sara Mir; Lisa E Goldsmith; Huaping He; Chun Luo; Scott M Brown; Paul W Doetsch; Andy Kaempf; Jeong Y Lim; Amanda K McCullough; R Stephen Lloyd
Journal:  Sci Rep       Date:  2018-01-15       Impact factor: 4.379

Review 9.  Relationship among DNA double-strand break (DSB), DSB repair, and transcription prevents genome instability and cancer.

Authors:  Ayako Ui; Natsuko Chiba; Akira Yasui
Journal:  Cancer Sci       Date:  2020-05-09       Impact factor: 6.716
  9 in total

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