The genetics of the hereditary xeroderma pigmentosum syndrome

Biochimie
Anne Stary, Alain Sarasin

Abstract

All living organisms are constantly exposed to endogenous or exogenous agents that can cause damage to the genomic DNA, leading to the loss of stable genetic information. Fortunately, all cells are equipped with numerous classes of DNA repair pathways which are able to correct many kinds of DNA damage such as bulky adducts, oxidative lesions, single- and double-strand breaks and mismah. The importance of these DNA repair processes is attested by the existence of several rare but dramatic hereditary diseases caused by defects in one of their repair pathways. These diseases are usually associated with early onset of malignancies confirming the direct relationship between unrepaired DNA lesions, mutations or chromosomal modifications and cancer incidence. Among these hereditary diseases the UV-hypersensitive ones have been particularly well studied and the xeroderma pigmentosum (XP) is probably the best known syndrome up to now in terms of genetics and biochemistry.

References

Jan 1, 1975·Proceedings of the National Academy of Sciences of the United States of America·A R LehmannD Bootsma
Sep 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·Y C WangJ J McCormick
May 1, 1990·Journal of the American Academy of Dermatology·P H Itin, M R Pittelkow
Nov 1, 1985·International Journal of Radiation Biology and Related Studies in Physics, Chemistry, and Medicine·R M TyrrellM Pidoux
Jul 19, 1972·Nature: New Biology·E A De Weerd-KasteleinD Bootsma
Sep 29, 1995·The Journal of Biological Chemistry·C H ParkA Sancar
Jan 1, 1994·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·J H Hoeijmakers
Jan 30, 1995·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·D BootsmaJ Hoeijmakers
Oct 1, 1994·Human Molecular Genetics·G D FrederickE C Friedberg
Feb 10, 1995·The Journal of Biological Chemistry·D MuA Sancar
Jun 1, 1994·Human Molecular Genetics·T Nouspikel, S G Clarkson
Nov 1, 1994·The Journal of Investigative Dermatology·K H KraemerM M Seidman
Apr 26, 1994·Proceedings of the National Academy of Sciences of the United States of America·S KeeneyS Linn
Nov 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·N DumazL Daya-Grosjean
Sep 1, 1996·Molecular and Cellular Biology·K SugasawaF Hanaoka
Oct 4, 1996·The Journal of Biological Chemistry·A F NicholsS Linn
Jan 1, 1996·Annual Review of Biochemistry·E C Friedberg
Jan 7, 1997·Proceedings of the National Academy of Sciences of the United States of America·K H Kraemer
Feb 1, 1997·Biochemical Society Transactions·W VermeulenJ H Hoeijmakers
Apr 1, 1997·Proceedings of the National Academy of Sciences of the United States of America·T NouspikelS G Clarkson
Jun 20, 1997·The Journal of Biological Chemistry·M WakasugiA Sancar

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Citations

Jan 29, 2010·Cancer Chemotherapy and Pharmacology·Helotonio CarvalhoCarlos Frederico Martins Menck
Nov 13, 2012·Archives of Dermatological Research·Mohamed Amine SenhajiAbdelhamid Barakat
Dec 4, 2003·Mutation Research·Helotonio CarvalhoCarlos Frederico Martins Menck
Dec 4, 2003·Mutation Research·Alain Sarasin
Nov 26, 2002·Experimental Dermatology·Alain Sarasin, Giuseppina Giglia-Mari
Mar 5, 2004·Expert Opinion on Biological Therapy·Thierry Magnaldo
Aug 24, 2010·Journal of Cranio-maxillo-facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery·Talel TayebDominique Goga
Dec 15, 2015·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·F LahlimiJ Elhoudzi
May 30, 2009·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Julie Di LuccaNadem Soufir
Jan 8, 2010·The Journal of Investigative Dermatology·Nadem SoufirAlain Sarasin
Mar 6, 2003·Human Mutation·Giuseppina Giglia-Mari, Alain Sarasin
Aug 11, 2015·Mutation Research·Aurélie Dupuy, Alain Sarasin
Jul 9, 2016·Photodermatology, Photoimmunology & Photomedicine·Steffen SchubertSteffen Emmert
May 17, 2017·International Journal of Cancer. Journal International Du Cancer·Yuan LinJiali Han
Jan 11, 2013·International Journal of Molecular Sciences·Timothy Budden, Nikola A Bowden
Jan 15, 2005·Cancer Gene Therapy·Melissa Gava ArmeliniCarlos Frederico Martins Menck
Nov 17, 2009·Cellular and Molecular Life Sciences : CMLS·Maria J MarcaidaGuillermo Montoya
Mar 20, 2003·The Journal of Biological Chemistry·Marcel HohlOrlando D Schärer
Nov 28, 2017·Journal of the European Academy of Dermatology and Venereology : JEADV·P EspiF Grange
Apr 7, 2004·Médecine sciences : M/S·Thierry Magnaldo
Dec 18, 2019·Mutation Research. Reviews in Mutation Research·Abir ZebianKazem Zibara
Jun 28, 2005·Cancer Letters·Leela Daya-Grosjean, Sophie Couvé-Privat
Feb 18, 2020·The Journal of Investigative Dermatology·Maria Gonçalves-MaiaThierry Magnaldo
Sep 14, 2021·Photochemistry and Photobiology·Nathalia Quintero-RuizCarlos Frederico Martins Menck
Apr 21, 2009·American Journal of Human Genetics·Zhi-Qiang WangXiangyin Kong

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