* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
Download Gene Section XPC (xeroderma pigmentosum, complementation group C) Atlas of Genetics and Cytogenetics
Genomic library wikipedia , lookup
Epigenetics of human development wikipedia , lookup
Frameshift mutation wikipedia , lookup
Epigenetics in learning and memory wikipedia , lookup
Nucleic acid double helix wikipedia , lookup
Gene therapy wikipedia , lookup
Human genome wikipedia , lookup
Nucleic acid analogue wikipedia , lookup
DNA supercoil wikipedia , lookup
Molecular cloning wikipedia , lookup
Cell-free fetal DNA wikipedia , lookup
Genetic engineering wikipedia , lookup
Deoxyribozyme wikipedia , lookup
Epigenomics wikipedia , lookup
DNA vaccination wikipedia , lookup
Primary transcript wikipedia , lookup
Polycomb Group Proteins and Cancer wikipedia , lookup
Genome evolution wikipedia , lookup
No-SCAR (Scarless Cas9 Assisted Recombineering) Genome Editing wikipedia , lookup
Genome (book) wikipedia , lookup
Extrachromosomal DNA wikipedia , lookup
Cre-Lox recombination wikipedia , lookup
Non-coding DNA wikipedia , lookup
Nutriepigenomics wikipedia , lookup
Zinc finger nuclease wikipedia , lookup
DNA damage theory of aging wikipedia , lookup
Designer baby wikipedia , lookup
Point mutation wikipedia , lookup
Vectors in gene therapy wikipedia , lookup
Helitron (biology) wikipedia , lookup
Microevolution wikipedia , lookup
History of genetic engineering wikipedia , lookup
Therapeutic gene modulation wikipedia , lookup
Artificial gene synthesis wikipedia , lookup
Cancer epigenetics wikipedia , lookup
Genome editing wikipedia , lookup
Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Gene Section Review XPC (xeroderma pigmentosum, complementation group C) Anne Stary, Alain Sarasin Laboratory of Genetic Instability and Cancer, UPR2169 CNRS, Institut de Recherches sur le Cancer, 7, rue guy Moquet, BP 8, 94801 Villejuif, France (AS, AS) Published in Atlas Database: February 2001 Online updated version : http://AtlasGeneticsOncology.org/Genes/XPCID122.html DOI: 10.4267/2042/37724 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2001 Atlas of Genetics and Cytogenetics in Oncology and Haematology Repair (NER) repair capacity, but the residual repair has been shown to occur specifically in transcribed genes. It is very likely that the XPC-HR23B complex is the principal damage recognition complex i.e. essential for the recognition of DNA lesions in the genome. Binding of XPC-HR23B to a DNA lesion causes local unwinding, so that the XPA protein can bind and the whole repair machinery can be loaded onto the damaged site. The XPC-HR23B complex is only required for global genome repair. In case of transcription coupled repair when an RNA polymerase is stalled at a lesion, the DNA is unwound by the transcription complex and XPA can bind independently of XPC-HR23B complex. Identity Other names: XPCC xeroderma complementation group C HGNC (Hugo): XPC Location : 3p25.1 pigmentosum, DNA/RNA Description 17703 bp; 16 exons. Transcription 3558 b mRNA. Homology Protein MGI : Xpc (Nb 103557). Description Mutations 939 amino acids. Germinal Expression 19 mutated sites involved in the XP group C syndrome (XPC), 95% of these mutations (non sense, frameshift, deletion or splice site mutations) give rise to truncated proteins indicating that the XPC gene is not essential for viability. Ubiquitous. Localisation Nuclear. Function Implicated in Involved in the early recognition of DNA damage present in chromatine. Two proteins have been identified and implicated in (one of) the first steps of NER, i.e. the recognition of lesions in the DNA: the XPA gene product and the XPC gene product in complex with HR23B. This XPC-HR23B complex has been implicated in DNA damage recognition, especially the cyclobutane pyrimidine dimers induced by UV-light. XPC cells have low Nucleotide Excision Atlas Genet Cytogenet Oncol Haematol. 2001; 5(2) Xeroderma pigmentosum XPC Disease Predisposition to skin cancer: early skin tumours. References Bohr VA, Okumoto DS, Hanawalt PC. Survival of UV-irradiated mammalian cells correlates with efficient DNA repair in an 103 XPC (xeroderma pigmentosum, complementation group C) essential gene. Proc Jun;83(11):3830-3 Natl Acad Sci U S A. Stary A, Sarasin A 1986 Sarasin A. Development of a new easy complementation assay for DNA repair deficient human syndromes using cloned repair genes. Carcinogenesis. 1995 May;16(5):1003-9 Vuillaume M, Calvayrac R, Best-Belpomme M, Tarroux P, Hubert M, Decroix Y, Sarasin A. Deficiency in the catalase activity of xeroderma pigmentosum cell and simian virus 40transformed human cell extracts. Cancer Res. 1986 Feb;46(2):538-44 van Hoffen A, Venema J, Meschini R, van Zeeland AA, Mullenders LH. Transcription-coupled repair removes both cyclobutane pyrimidine dimers and 6-4 photoproducts with equal efficiency and in a sequential way from transcribed DNA in xeroderma pigmentosum group C fibroblasts. EMBO J. 1995 Jan 16;14(2):360-7 Mullenders LH, van Zeeland AA, Natarajan AT. The localization of ultraviolet-induced excision repair in the nucleus and the distribution of repair events in higher order chromatin loops in mammalian cells. J Cell Sci Suppl. 1987;6:243-62 Li L, Peterson C, Legerski R. Sequence of the mouse XPC cDNA and genomic structure of the human XPC gene. Nucleic Acids Res. 1996 Mar 15;24(6):1026-8 Puvion-Dutilleul F, Sarasin A. Chromatin and nucleolar changes in Xeroderma pigmentosum cells resemble agingrelated nuclear events. Mutat Res. 1989 Jan;219(1):57-70 Reardon JT, Mu D, Sancar A. Overproduction, purification, and characterization of the XPC subunit of the human DNA repair excision nuclease. J Biol Chem. 1996 Aug 9;271(32):19451-6 Kantor GJ, Barsalou LS, Hanawalt PC. Selective repair of specific chromatin domains in UV-irradiated cells from xeroderma pigmentosum complementation group C. Mutat Res. 1990 May;235(3):171-80 van der Spek PJ, Eker A, Rademakers S, Visser C, Sugasawa K, Masutani C, Hanaoka F, Bootsma D, Hoeijmakers JH. XPC and human homologs of RAD23: intracellular localization and relationship to other nucleotide excision repair complexes. Nucleic Acids Res. 1996 Jul 1;24(13):2551-9 Venema J, van Hoffen A, Natarajan AT, van Zeeland AA, Mullenders LH. The residual repair capacity of xeroderma pigmentosum complementation group C fibroblasts is highly specific for transcriptionally active DNA. Nucleic Acids Res. 1990 Feb 11;18(3):443-8 Wang XW, Vermeulen W, Coursen JD, Gibson M, Lupold SE, Forrester K, Xu G, Elmore L, Yeh H, Hoeijmakers JH, Harris CC. The XPB and XPD DNA helicases are components of the p53-mediated apoptosis pathway. Genes Dev. 1996 May 15;10(10):1219-32 Kantor GJ, Shanower GA. A re-examination of the intragenome distribution of repaired sites in proliferating xeroderma pigmentosum complementation group C fibroblasts. Mutat Res. 1992 Nov;293(1):55-64 Legerski R, Peterson C. Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C. Nature. 1992 Sep 3;359(6390):70-3 Ahrens C, Grewe M, Berneburg M, Grether-Beck S, Quilliet X, Mezzina M, Sarasin A, Lehmann AR, Arlett CF, Krutmann J. Photocarcinogenesis and inhibition of intercellular adhesion molecule 1 expression in cells of DNA-repair-defective individuals. Proc Natl Acad Sci U S A. 1997 Jun 24;94(13):6837-41 Yagi T, Sato M, Tatsumi-Miyajima J, Takebe H. UV-induced base substitution mutations in a shuttle vector plasmid propagated in group C xeroderma pigmentosum cells. Mutat Res. 1992 Mar;273(2):213-20 Cheo DL, Ruven HJ, Meira LB, Hammer RE, Burns DK, Tappe NJ, van Zeeland AA, Mullenders LH, Friedberg EC. Characterization of defective nucleotide excision repair in XPC mutant mice. Mutat Res. 1997 Mar 4;374(1):1-9 Evans MK, Taffe BG, Harris CC, Bohr VA. DNA strand bias in the repair of the p53 gene in normal human and xeroderma pigmentosum group C fibroblasts. Cancer Res. 1993 Nov 15;53(22):5377-81 Dumaz N, Duthu A, Ehrhart JC, Drougard C, Appella E, Anderson CW, May P, Sarasin A, Daya-Grosjean L. Prolonged p53 protein accumulation in trichothiodystrophy fibroblasts dependent on unrepaired pyrimidine dimers on the transcribed strands of cellular genes. Mol Carcinog. 1997 Dec;20(4):340-7 Li L, Bales ES, Peterson CA, Legerski RJ. Characterization of molecular defects in xeroderma pigmentosum group C. Nat Genet. 1993 Dec;5(4):413-7 Evans E, Moggs JG, Hwang JR, Egly JM, Wood RD. Mechanism of open complex and dual incision formation by human nucleotide excision repair factors. EMBO J. 1997 Nov 3;16(21):6559-73 Legerski RJ, Liu P, Li L, Peterson CA, Zhao Y, Leach RJ, Naylor SL, Siciliano MJ. Assignment of xeroderma pigmentosum group C (XPC) gene to chromosome 3p25. Genomics. 1994 May 1;21(1):266-9 Masutani C, Araki M, Sugasawa K, van der Spek PJ, Yamada A, Uchida A, Maekawa T, Bootsma D, Hoeijmakers JH, Hanaoka F. Identification and characterization of XPC-binding domain of hHR23B. Mol Cell Biol. 1997 Dec;17(12):6915-23 Masutani C, Sugasawa K, Yanagisawa J, Sonoyama T, Ui M, Enomoto T, Takio K, Tanaka K, van der Spek PJ, Bootsma D. Purification and cloning of a nucleotide excision repair complex involving the xeroderma pigmentosum group C protein and a human homologue of yeast RAD23. EMBO J. 1994 Apr 15;13(8):1831-43 Quilliet X, Chevallier-Lagente O, Zeng L, Calvayrac R, Mezzina M, Sarasin A, Vuillaume M. Retroviral-mediated correction of DNA repair defect in xeroderma pigmentosum cells is associated with recovery of catalase activity. Mutat Res. 1997 Dec;385(3):235-42 van der Spek PJ, Smit EM, Beverloo HB, Sugasawa K, Masutani C, Hanaoka F, Hoeijmakers JH, Hagemeijer A. Chromosomal localization of three repair genes: the xeroderma pigmentosum group C gene and two human homologs of yeast RAD23. Genomics. 1994 Oct;23(3):651-8 Zeng L, Quilliet X, Chevallier-Lagente O, Eveno E, Sarasin A, Mezzina M. Retrovirus-mediated gene transfer corrects DNA repair defect of xeroderma pigmentosum cells of complementation groups A, B and C. Gene Ther. 1997 Oct;4(10):1077-84 Yamaizumi M, Sugano T. U.v.-induced nuclear accumulation of p53 is evoked through DNA damage of actively transcribed genes independent of the cell cycle. Oncogene. 1994 Oct;9(10):2775-84 Baxter BK, Smerdon MJ. Nucleosome unfolding during DNA repair in normal and xeroderma pigmentosum (group C) human cells. J Biol Chem. 1998 Jul 10;273(28):17517-24 Carreau M, Eveno E, Quilliet X, Chevalier-Lagente O, Benoit A, Tanganelli B, Stefanini M, Vermeulen W, Hoeijmakers JH, Atlas Genet Cytogenet Oncol Haematol. 2001; 5(2) Berg RJ, Ruven HJ, Sands AT, de Gruijl FR, Mullenders LH. Defective global genome repair in XPC mice is associated with 104 XPC (xeroderma pigmentosum, complementation group C) Stary A, Sarasin A skin cancer susceptibility but not with sensitivity to UVB induced erythema and edema. J Invest Dermatol. 1998 Apr;110(4):405-9 families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels. Cancer Res. 2000 Apr 1;60(7):1974-82 Giglia G, Dumaz N, Drougard C, Avril MF, Daya-Grosjean L, Sarasin A. p53 mutations in skin and internal tumors of xeroderma pigmentosum patients belonging to the complementation group C. Cancer Res. 1998 Oct 1;58(19):4402-9 Friedberg EC, Bond JP, Burns DK, Cheo DL, Greenblatt MS, Meira LB, Nahari D, Reis AM. Defective nucleotide excision repair in xpc mutant mice and its association with cancer predisposition. Mutat Res. 2000 Mar 20;459(2):99-108 Garssen J, van Steeg H, de Gruijl F, de Boer J, van der Horst GT, van Kranen H, van Loveren H, van Dijk M, Fluitman A, Weeda G, Hoeijmakers JH. Transcription-coupled and global genome repair differentially influence UV-B-induced acute skin effects and systemic immunosuppression. J Immunol. 2000 Jun 15;164(12):6199-205 Li RY, Calsou P, Jones CJ, Salles B. Interactions of the transcription/DNA repair factor TFIIH and XP repair proteins with DNA lesions in a cell-free repair assay. J Mol Biol. 1998 Aug 14;281(2):211-8 Sugasawa K, Ng JM, Masutani C, Iwai S, van der Spek PJ, Eker AP, Hanaoka F, Bootsma D, Hoeijmakers JH. Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair. Mol Cell. 1998 Aug;2(2):223-32 Khan SG, Metter EJ, Tarone RE, Bohr VA, Grossman L, Hedayati M, Bale SJ, Emmert S, Kraemer KH. A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism. Carcinogenesis. 2000 Oct;21(10):1821-5 Ananthaswamy HN, Ouhtit A, Evans RL, Gorny A, Khaskina P, Sands AT, Conti CJ. Persistence of p53 mutations and resistance of keratinocytes to apoptosis are associated with the increased susceptibility of mice lacking the XPC gene to UV carcinogenesis. Oncogene. 1999 Dec 2;18(51):7395-8 Reis AM, Cheo DL, Meira LB, Greenblatt MS, Bond JP, Nahari D, Friedberg EC. Genotype-specific Trp53 mutational analysis in ultraviolet B radiation-induced skin cancers in Xpc and Xpc Trp53 mutant mice. Cancer Res. 2000 Mar 15;60(6):1571-9 Slor H, Batko S, Khan SG, Sobe T, Emmert S, Khadavi A, Frumkin A, Busch DB, Albert RB, Kraemer KH. Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life. J Invest Dermatol. 2000 Dec;115(6):974-80 Cheo DL, Burns DK, Meira LB, Houle JF, Friedberg EC. Mutational inactivation of the xeroderma pigmentosum group C gene confers predisposition to 2-acetylaminofluorene-induced liver and lung cancer and to spontaneous testicular cancer in Trp53-/- mice. Cancer Res. 1999 Feb 15;59(4):771-5 de Laat WL, Jaspers NG, Hoeijmakers JH. Molecular mechanism of nucleotide excision repair. Genes Dev. 1999 Apr 1;13(7):768-85 van Oosten M, Rebel H, Friedberg EC, van Steeg H, van der Horst GT, van Kranen HJ, Westerman A, van Zeeland AA, Mullenders LH, de Gruijl FR. Differential role of transcriptioncoupled repair in UVB-induced G2 arrest and apoptosis in mouse epidermis. Proc Natl Acad Sci U S A. 2000 Oct 10;97(21):11268-73 Otto AI, Riou L, Marionnet C, Mori T, Sarasin A, Magnaldo T. Differential behaviors toward ultraviolet A and B radiation of fibroblasts and keratinocytes from normal and DNA-repairdeficient patients. Cancer Res. 1999 Mar 15;59(6):1212-8 Wijnhoven SW, Kool HJ, Mullenders LH, van Zeeland AA, Friedberg EC, van der Horst GT, van Steeg H, Vrieling H. Agedependent spontaneous mutagenesis in Xpc mice defective in nucleotide excision repair. Oncogene. 2000 Oct 12;19(43):5034-7 Wakasugi M, Sancar A. Order of assembly of human DNA repair excision nuclease. J Biol Chem. 1999 Jun 25;274(26):18759-68 Batty D, Rapic'-Otrin V, Levine AS, Wood RD. Stable binding of human XPC complex to irradiated DNA confers strong discrimination for damaged sites. J Mol Biol. 2000 Jul 7;300(2):275-90 Yokoi M, Masutani C, Maekawa T, Sugasawa K, Ohkuma Y, Hanaoka F. The xeroderma pigmentosum group C protein complex XPC-HR23B plays an important role in the recruitment of transcription factor IIH to damaged DNA. J Biol Chem. 2000 Mar 31;275(13):9870-5 Berg RJ, Rebel H, van der Horst GT, van Kranen HJ, Mullenders LH, van Vloten WA, de Gruijl FR. Impact of global genome repair versus transcription-coupled repair on ultraviolet carcinogenesis in hairless mice. Cancer Res. 2000 Jun 1;60(11):2858-63 This article should be referenced as such: Stary A, Sarasin A. XPC (xeroderma pigmentosum, complementation group C). Atlas Genet Cytogenet Oncol Haematol. 2001; 5(2):103-105. Chavanne F, Broughton BC, Pietra D, Nardo T, Browitt A, Lehmann AR, Stefanini M. Mutations in the XPC gene in Atlas Genet Cytogenet Oncol Haematol. 2001; 5(2) 105