Literature DB >> 21612988

Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease.

Siobhán Q Gregg1, Andria Rasile Robinson, Laura J Niedernhofer.   

Abstract

ERCC1-XPF is a structure-specific endonuclease required for nucleotide excision repair, interstrand crosslink repair, and the repair of some double-strand breaks. Mutations in ERCC1 or XPF cause xeroderma pigmentosum, XFE progeroid syndrome or cerebro-oculo-facio-skeletal syndrome, characterized by increased risk of cancer, accelerated aging and severe developmental abnormalities, respectively. This review provides a comprehensive overview of the health impact of ERCC1-XPF deficiency, based on these rare diseases and mouse models of them. This offers an understanding of the tremendous health impact of DNA damage derived from environmental and endogenous sources.
Copyright © 2011 Elsevier B.V. All rights reserved.

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Year:  2011        PMID： 21612988      PMCID： PMC3139823          DOI： 10.1016/j.dnarep.2011.04.026

Source DB:  PubMed          Journal:  DNA Repair (Amst)        ISSN： 1568-7856


  127 in total

1.  The structure-specific endonuclease Ercc1-Xpf is required for targeted gene replacement in embryonic stem cells.

Authors:  L J Niedernhofer; J Essers; G Weeda; B Beverloo; J de Wit; M Muijtjens; H Odijk; J H Hoeijmakers; R Kanaar
Journal:  EMBO J       Date:  2001-11-15       Impact factor: 11.598

2.  Analysis of DNA repair pathways of Schizosaccharomyces pombe by means of swi-rad double mutants.

Authors:  C Schlake; K Ostermann; H Schmidt; H Gutz
Journal:  Mutat Res       Date:  1993-06       Impact factor: 2.433

3.  Different types of recombination events are controlled by the RAD1 and RAD52 genes of Saccharomyces cerevisiae.

Authors:  H L Klein
Journal:  Genetics       Date:  1988-10       Impact factor: 4.562

4.  Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome.

Authors:  Theo G M F Gorgels; Ingrid van der Pluijm; Renata M C Brandt; George A Garinis; Harry van Steeg; Gerard van den Aardweg; Gerard H Jansen; Jan M Ruijter; Arthur A B Bergen; Dirk van Norren; Jan H J Hoeijmakers; Gijsbertus T J van der Horst
Journal:  Mol Cell Biol       Date:  2006-12-04       Impact factor: 4.272

5.  Back mutation can produce phenotype reversion in Bloom syndrome somatic cells.

Authors:  N A Ellis; S Ciocci; J German
Journal:  Hum Genet       Date:  2001-02       Impact factor: 4.132

6.  Coordination of structure-specific nucleases by human SLX4/BTBD12 is required for DNA repair.

Authors:  Ivan M Muñoz; Karolina Hain; Anne-Cécile Déclais; Mary Gardiner; Geraldine W Toh; Luis Sanchez-Pulido; Johannes M Heuckmann; Rachel Toth; Thomas Macartney; Berina Eppink; Roland Kanaar; Chris P Ponting; David M J Lilley; John Rouse
Journal:  Mol Cell       Date:  2009-07-10       Impact factor: 17.970

7.  Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients.

Authors:  Anwaar Ahmad; Jacqueline H Enzlin; Nikhil R Bhagwat; Nils Wijgers; Anja Raams; Esther Appledoorn; Arjan F Theil; Jan H J Hoeijmakers; Wim Vermeulen; Nicolaas G J Jaspers; Orlando D Schärer; Laura J Niedernhofer
Journal:  PLoS Genet       Date:  2010-03-05       Impact factor: 5.917

Review 8.  In vivo reversion to normal of inherited mutations in humans.

Authors:  R Hirschhorn
Journal:  J Med Genet       Date:  2003-10       Impact factor: 6.318

9.  TRF1 controls telomere length and mitotic fidelity in epithelial homeostasis.

Authors:  Purificacion Muñoz; Raquel Blanco; Guillermo de Carcer; Stefan Schoeftner; Roberta Benetti; Juana M Flores; Marcos Malumbres; Maria A Blasco
Journal:  Mol Cell Biol       Date:  2009-01-05       Impact factor: 4.272

10.  Increased susceptibility to ultraviolet-B and carcinogens of mice lacking the DNA excision repair gene XPA.

Authors:  A de Vries; C T van Oostrom; F M Hofhuis; P M Dortant; R J Berg; F R de Gruijl; P W Wester; C F van Kreijl; P J Capel; H van Steeg; S J Verbeek
Journal:  Nature       Date:  1995-09-14       Impact factor: 49.962
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  71 in total

1.  Multiple DNA binding domains mediate the function of the ERCC1-XPF protein in nucleotide excision repair.

Authors:  Yan Su; Barbara Orelli; Advaitha Madireddy; Laura J Niedernhofer; Orlando D Schärer
Journal:  J Biol Chem       Date:  2012-04-30       Impact factor: 5.157

2.  NF-κB inhibition delays DNA damage-induced senescence and aging in mice.

Authors:  Jeremy S Tilstra; Andria R Robinson; Jin Wang; Siobhán Q Gregg; Cheryl L Clauson; Daniel P Reay; Luigi A Nasto; Claudette M St Croix; Arvydas Usas; Nam Vo; Johnny Huard; Paula R Clemens; Donna B Stolz; Denis C Guttridge; Simon C Watkins; George A Garinis; Yinsheng Wang; Laura J Niedernhofer; Paul D Robbins
Journal:  J Clin Invest       Date:  2012-06-18       Impact factor: 14.808

3.  The oxidative DNA lesions 8,5'-cyclopurines accumulate with aging in a tissue-specific manner.

Authors:  Jin Wang; Cheryl L Clauson; Paul D Robbins; Laura J Niedernhofer; Yinsheng Wang
Journal:  Aging Cell       Date:  2012-05-22       Impact factor: 9.304

4.  The study of the relation of DNA repair pathway genes SNPs and the sensitivity to radiotherapy and chemotherapy of NSCLC.

Authors:  Chunbo Wang; Huan Nie; Yiqun Li; Guiyou Liu; Xu Wang; Shijie Xing; Liping Zhang; Xin Chen; Yue Chen; Yu Li
Journal:  Sci Rep       Date:  2016-06-01       Impact factor: 4.379

Review 5.  Understanding nucleotide excision repair and its roles in cancer and ageing.

Authors:  Jurgen A Marteijn; Hannes Lans; Wim Vermeulen; Jan H J Hoeijmakers
Journal:  Nat Rev Mol Cell Biol       Date:  2014-07       Impact factor: 94.444

6.  Increased meiotic crossovers and reduced genome stability in absence of Schizosaccharomyces pombe Rad16 (XPF).

Authors:  Tara L Mastro; Susan L Forsburg
Journal:  Genetics       Date:  2014-10-06       Impact factor: 4.562

7.  Downregulation of cholesterol biosynthesis genes in the forebrain of ERCC1-deficient mice.

Authors:  Scott C Smith; Andria R Robinson; Laura J Niedernhofer; Michal Hetman
Journal:  Neurobiol Dis       Date:  2011-12-29       Impact factor: 5.996

8.  Cell autonomous and nonautonomous mechanisms drive hematopoietic stem/progenitor cell loss in the absence of DNA repair.

Authors:  Joon Seok Cho; Sung Ho Kook; Andria Rasile Robinson; Laura J Niedernhofer; Byeong-Chel Lee
Journal:  Stem Cells       Date:  2013-03       Impact factor: 6.277

Review 9.  Photosensitive human syndromes.

Authors:  Graciela Spivak; Philip C Hanawalt
Journal:  Mutat Res       Date:  2014-11-14       Impact factor: 2.433

10.  Involvement of ERCC1 in the pathogenesis of osteoarthritis through the modulation of apoptosis and cellular senescence.

Authors:  Koji Takayama; Yohei Kawakami; Sahnghoon Lee; Nick Greco; Mitra Lavasani; Yutaka Mifune; James H Cummins; Takashi Yurube; Ryosuke Kuroda; Masahiro Kurosaka; Freddie H Fu; Johnny Huard
Journal:  J Orthop Res       Date:  2014-06-25       Impact factor: 3.494
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