XPC: Its Product and Biological Roles (original) (raw)

• Bootsma D, Kraemer KH, Cleaver JE et al. Nucleotide excision repair syndromes: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease Vol. 1. New York: McGraw-Hill Book Co, 2001:677–703.
  Google Scholar
• Friedberg EC, Walker GC, Siede W et al. DNA Repair and Mutagenesis, 2nd ed. Washington, DC: ASM Press, 2006.
  Google Scholar
• Venema J, van Hoffen A, Karcagi V et al. Xeroderma pigmentosum complementation group C cells remove pyrimidine dimers selectively from the transcribed strand of active genes. Mol Cell Biol 1991;11:4128–4134.
  PubMed CAS Google Scholar
• Legerski R, Peterson C. Expression cloning of a human DNA repair gene involved in Xeroderma pigmentosum group C. Nature 1992;359:70–73.
  Article PubMed CAS Google Scholar
• Masutani C, Sugasawa K, Yanagisawa J et al. Purification and cloning of a nucleotide excision repair complex involving the Xeroderma pigmentosum group C protein and a human homolog of yeast RAD23. EMBO J 1994;13:1831–1843.
  PubMed CAS Google Scholar
• Shivji MKK, Eker APM, Wood RD. DNA repair defect in Xeroderma pigmentosum group C and complementing factor from HeLa cells. J Biol Chem 1994;269:22749–22757.
  PubMed CAS Google Scholar
• Araki M, Masutani C, Takemura M et al. Centrosome protein centrin 2/caltractin 1 is part of the xeroderma pigmentosum group C complex that initiates global genome nucleotide excision repair. J Biol Chem 2001;276:18665–18672.
  Article PubMed CAS Google Scholar
• Kusumoto R, Masutani C, Sugasawa K et al. Diversity of the damage recognition step in the global genomic nucleotide excision repair in vitro. Mutat Res 2001;485:219–227.
  PubMed CAS Google Scholar
• Sugasawa K, Okamoto T, Shimizu Y et al. A multistep damage recognition mechanism for global genomic nucleotide excision repair. Genes Dev 2001;15:507–521.
  Article PubMed CAS Google Scholar
• Janicijevic A, Sugasawa K, Shimizu Y et al. DNA bending by the human damage recognition complex XPC-HR23B. DNA Repair (Amst) 2003;2:325–336.
  Article PubMed CAS Google Scholar
• Sugasawa K, Ng JMY, Masutani C et al. Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair. Mol Cell 1998;2:223–232.
  Article PubMed CAS Google Scholar
• Riedl T, Hanaoka F, Egly J-M. The comings and goings of nucleotide excision repair factors on damaged DNA. EMBO J 2003;22:5293–5303.
  Article PubMed CAS Google Scholar
• Volker M, Moné MJ, Karmakar P et al. Sequential assembly of the nucleotide excision repair factors in vivo. Mol Cell 2001;8:213–224.
  Article PubMed CAS Google Scholar
• Tornaletti S, Hanawalt PC. Effect of DNA lesions on transcription elongation. Biochimie 1999;81:139–146.
  Article PubMed CAS Google Scholar
• Sugasawa K, Shimizu Y, Iwai S et al. A molecular mechanism for DNA damage recognition by the xeroderma pigmentosum group C protein complex. DNA Repair (Amst) 2002;1:95–107.
  Article PubMed CAS Google Scholar
• Kim J-K, Patel D, Choi B-S. Contrasting structural impacts induced by cis-syn cyclobutane dimer and (6–4) adduct in DNA duplex decamers: implication in mutagenesis and repair activity. Photochem Photobiol 1995;62:44–50.
  Article PubMed CAS Google Scholar
• McAteer K, Jing Y, Kao J et al. Solution-state structure of a DNA dodecamer duplex containing a cis-syn thymine cyclobutane dimer, the major UV photoproduct of DNA. J Mol Biol 1998;282:1013–1032.
  Article PubMed CAS Google Scholar
• Araújo SJ, Nigg EA, Wood RD. Strong functional interactions of TFIIH with XPC and XPG in human DNA nucleotide excision repair, without a preassembled repairosome. Mol Cell Biol 2001;21:2281–2291.
  Article PubMed Google Scholar
• Yokoi M, Masutani C, Maekawa T et al. 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;275:9870–9875.
  Article PubMed CAS Google Scholar
• Li R-Y, Calsou P, Jones CJ et al. 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;281:211–218.
  Article PubMed CAS Google Scholar
• Evans E, Moggs JG, Hwang JR et al. Mechanism of open complex and dual incision formation by human nucleotide excision repair factors. EMBO J 1997;16:6559–6573.
  Article PubMed CAS Google Scholar
• Mu D, Wakasugi M, Hsu DS et al. Characterization of reaction intermediates of human excision repair nuclease. J Biol Chem 1997;272:28971–28979.
  Article PubMed CAS Google Scholar
• Nishi R, Okuda Y, Watanabe E et al. Centrin 2 stimulates nucleotide excision repair by interacting with xeroderma pigmentosum group C protein. Mol Cell Biol 2005;25:5664–5674.
  Article PubMed CAS Google Scholar
• Popescu A, Miron S, Blouquit Y et al. Xeroderma pigmentosum group C protein possesses a high affinity binding site to human centrin 2 and calmodulin. J Biol Chem 2003;278:40252–40261.
  Article PubMed CAS Google Scholar
• Uchida A, Sugasawa K, Masutani C et al. The carboxy-terminal domain of the XPC protein plays a crucial role in nucleotide excision repair through interactions with transcription factor IIH. DNA Repair (Amst) 2002;1:449–461.
  Article PubMed CAS Google Scholar
• Chavanne F, Broughton BC, Pietra D et al. Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein and transcript levels. Cancer Res 2000;60:1974–1982.
  PubMed CAS Google Scholar
• Emmert S, Wetzig T, Imoto K et al. A Novel Complex Insertion/Deletion Mutation in the XPC DNA Repair Gene Leads to Skin Cancer in an Iraqi Family. J Invest Dermatol 2006;126:2542–2544.
  Article PubMed CAS Google Scholar
• Khan SG, Levy HL, Legerski R et al. Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia. J Invest Dermatol 1998;111:791–796.
  Article PubMed CAS Google Scholar
• Khan SG, Metin A, Gozukara E et al. Two essential splice lariat branchpoint sequences in one intron in a Xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk. Hum Mol Genet 2004;13:343–352.
  Article PubMed CAS Google Scholar
• Khan SG, Oh KS, Shahlavi T et al. Reduced XPC DNA repair gene mRNA levels in clinically normal parents of Xeroderma pigmentosum patients. Carcinogenesis 2006;27:84–94.
  Article PubMed CAS Google Scholar
• Lam CW, Cheung KK, Luk NM et al. DNA-based diagnosis of xeroderma pigmentosum group C by Whole-genome scan using single-nucleotide polymorphism microarray. J Invest Dermatol 2005;124:87–91.
  Article PubMed CAS Google Scholar
• Li L, Bales ES, Peterson CA et al. Characterization of molecular defects in Xeroderma pigmentosum group C. Nat Genet 1993;5:413–417.
  Article PubMed CAS Google Scholar
• Rivera-Begeman A, McDaniel LD, Schultz RA et al. A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma pigmentosum: A case report and review of the genetic variants reported in XPC. DNA Repair (Amst) 2006; (doi:10.1016/j.dnarep.2006.09.008).
  Google Scholar
• Okuda Y, Nishi R, Ng JMY et al. Relative levels of the two mammalian Rad23 homologs determine composition and stability of the xeroderma pigmentosum group C protein complex. DNA Repair (Amst) 2004;3:1285–1295.
  Article PubMed CAS Google Scholar
• Sugasawa K, Ng JMY, Masutani C et al. Two human homologs of Rad23 are functionally interchangeable in complex formation and stimulation of XPC repair activity. Mol Cell Biol 1997;17:6924–6931.
  PubMed CAS Google Scholar
• Sugasawa K, Masutani C, Uchida A et al. HHR23B, a human Rad23 homolog, stimulates XPC protein in nucleotide excision repair in vitro. Mol Cell Biol 1996;16:4852–4861.
  PubMed CAS Google Scholar
• van der Spek PJ, Eker A, Rademakers S et al. XPC and human homologs of RAD23: intracellular localization and relationship to other nucleotide excision repair complexes. Nucleic Acids Res 1996;24:2551–2559.
  Article PubMed Google Scholar
• Guzder SN, Habraken Y, Sung P et al. Reconstitution of yeast nucleotide excision repair with purified Rad proteins, replication protein A and transcription factor TFIIH. J Biol Chem 1995;270:12973–12976.
  Article PubMed CAS Google Scholar
• Masutani C, Araki M, Sugasawa K et al. Identification and characterization of XPC-binding domain of hHR23B. Mol Cell Biol 1997;17:6915–6923.
  PubMed CAS Google Scholar
• van der Spek PJ, Visser CE, Hanaoka F et al. Cloning, comparative mapping and RNA expression of the mouse homologues of the Saccharomyces cerevisiae nucleotide excision repair gene RAD23. Genomics 1996;31:20–27.
  Article PubMed Google Scholar
• Hiyama H, Yokoi M, Masutani C et al. Interaction of hHR23 with S5a. The ubiquitin-like domain of hHR23 mediates interaction with S5a subunit of 26 S proteasome. J Biol Chem 1999;274:28019–28025.
  Article PubMed CAS Google Scholar
• Schauber C, Chen L, Tongaonkar P et al. Rad23 links DNA repair to the ubiquitin/proteasome pathway. Nature 1998;391:715–718.
  Article PubMed CAS Google Scholar
• Bertolaet BL, Clarke DJ, Wolff M et al. UBA domains of DNA damage-inducible proteins interact with ubiquitin. Nat Struct Biol 2001;8:417–422.
  Article PubMed CAS Google Scholar
• Chen L, Shinde U, Ortolan TG et al. Ubiquitin-associated (UBA) domains in Rad23 bind ubiquitin and promote inhibition of multi-ubiquitin chain assembly. EMBO Rep 2001;2:933–938.
  Article PubMed CAS Google Scholar
• Raasi S, Pickart CM. Rad23 ubiquitin-associated domains (UBA) inhibit 26 S proteasome-catalyzed proteolysis by sequestering lysine 48-linked polyubiquitin chains. J Biol Chem 2003;278:8951–8959.
  Article PubMed CAS Google Scholar
• Wilkinson CR, Seeger M, Hartmann-Petersen R et al. Proteins containing the UBA domain are able to bind to multi-ubiquitin chains. Nat Cell Biol 2001;3:939–943.
  Article PubMed CAS Google Scholar
• Chen L, Madura K. Rad23 promotes the targeting of proteolytic substrates to the proteasome. Mol Cell Biol 2002;22:4902–4913.
  Article PubMed CAS Google Scholar
• Ng JMY, Vermeulen W, van der Horst GTJ et al. A novel regulation mechanism of DNA repair by damage-induced and RAD23-dependent stabilization of Xeroderma pigmentosum group C protein. Genes Dev 2003;17:1630–1645.
  Article PubMed CAS Google Scholar
• Ng JMY, Vrieling H, Sugasawa K et al. Developmental defects and male sterility in mice lacking the ubiquitin-like DNA repair gene mHR23B. Mol Cell Biol 2002;22(4):1233–1245.
  Article PubMed CAS Google Scholar
• Gillette TG, Yu S, Zhou Z et al. Distinct functions of the ubiquitin-proteasome pathway influence nucleotide excision repair. EMBO J 2006;25:2529–2538.
  PubMed CAS Google Scholar
• Salisbury JL, Suino KM, Busby R et al. Centrin-2 is required for centriole duplication in mammalian cells. Curr Biol 2002;12:1287–1292.
  Article PubMed CAS Google Scholar
• Paoletti A, Moudjou M, Paintrand M et al. Most of centrin in animal cells is not centrosome-associated and centrosomal centrin is confined to the distal lumen of centrioles. J Cell Sci 1996;109:3089–3102.
  PubMed CAS Google Scholar
• Molinier J, Ramos C, Fritsch O et al. CENTRIN2 modulates homologous recombination and nucleotide excision repair in Arabidopsis. Plant Cell 2004;16:1633–1643.
  Article PubMed CAS Google Scholar
• Araújo SJ, Tirode F, Coin F et al. Nucleotide excision repair of DNA with recombinant human proteins: definition of the minimal set of factors, active forms of TFIIH and modulation by CAK. Genes Dev 2000;14:349–359.
  PubMed Google Scholar
• Mu D, Park CH, Matsunaga T et al. Reconstitution of human DNA repair excision nuclease in a highly defined system. J Biol Chem 1995;270:2415–2418.
  Article PubMed CAS Google Scholar
• Sugasawa K, Okuda Y, Saijo M et al. UV-induced ubiquitylation of XPC protein mediated by UV-DDB-ubiquitin ligase complex. Cell 2005;121:387–400.
  Article PubMed CAS Google Scholar
• Wang QE, Zhu Q, Wani G et al. DNA repair factor XPC is modified by SUMO-1 and ubiquitin following UV irradiation. Nucleic Acids Res 2005;33:4023–4034.
  Article PubMed CAS Google Scholar
• Batty D, Rapic’-Otrin V, Levine AS et al. Stable binding of human XPC complex to irradiated DNA confers strong discrimination for damaged sites. J Mol Biol 2000;300:275–290.
  Article PubMed CAS Google Scholar
• Wittschieben BØ, Iwai S, Wood RD. DDB1-DDB2 (Xeroderma pigmentosum group E) protein complex recognizes a cyclobutane pyrimidine dimer, mismatches, apurinic/apyrimidinic sites and compound lesions in DNA. J Biol Chem 2005;280:39982–39989.
  Article PubMed CAS Google Scholar
• Fujiwara Y, Masutani C, Mizukoshi T et al. Characterization of DNA recognition by the human UV-damaged DNA-binding protein. J Biol Chem 1999;274:20027–20033.
  Article PubMed CAS Google Scholar
• Reardon JT, Nichols AF, Keeney S et al. Comparative analysis of binding of human damaged DNA-binding protein (XPE) and Escherichia coli damage recognition protein (UvrA) to the major ultraviolet photoproducts: T[c,s]T, T[t,s]T, T[6-4]T and T[Dewar]T. J Biol Chem 1993; 268:21301–21308.
  PubMed CAS Google Scholar
• Fitch ME, Nakajima S, Yasui A et al. In vivo recruitment of XPC to UV-induced cyclobutane pyrimidine dimers by the DDB2 gene product. J Biol Chem 2003; 278:46906–46910.
  Article PubMed CAS Google Scholar
• Moser J, Volker M, Kool H et al. The UV-damaged DNA binding protein mediates efficient targeting of the nucleotide excision repair complex to UV-induced photo lesions. DNA Repair (Amst) 2005; 4:571–582.
  Article PubMed CAS Google Scholar
• Hwang BJ, Ford JM, Hanawalt PC et al. Expression of the p48 Xeroderma pigmentosum gene is p53 dependent and is involved in global genome repair. Proc Natl Acad Sci USA 1999; 96:424–428.
  Article PubMed CAS Google Scholar
• Groisman R, Polanowska J, Kuraoka I et al. The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage. Cell 2003; 113:357–367.
  Article PubMed CAS Google Scholar
• Matsuda N, Azuma K, Saijo M et al. DDB2, the Xeroderma pigmentosum group E gene product, is directly ubiquitylated by Cullin 4A-based ubiquitin ligase complex. DNA Repair (Amst) 2005; 4:537–545.
  Article PubMed CAS Google Scholar
• Fitch ME, Cross IV, Turner SJ et al. The DDB2 nucleotide excision repair gene product p48 enhances global genomic repair in p53 deficient human fibroblasts. DNA Repair (Amst) 2003; 2:819–826.
  Article PubMed CAS Google Scholar
• Rapic’-Otrin V, McLenigan MP, Bisi DC et al. Sequential binding of UV DNA damage binding factor and degradation of the p48 subunit as early events after UV irradiation. Nucleic Acids Res 2002; 30:2588–2598.
  Article PubMed CAS Google Scholar
• Shimizu Y, Iwai S, Hanaoka F et al. Xeroderma pigmentosum group C protein interacts physically and functionally with thymine DNA glycosylase. EMBO J 2003; 22:164–173.
  Article PubMed CAS Google Scholar
• Hardeland U, Bentele M, Lettieri T et al. Thymine DNA glycosylase. Prog Nucleic Acid Res Mol Biol 2001; 68:235–253.
  Article PubMed CAS Google Scholar
• Waters TR, Gallinari P, Jiricny J et al. Human thymine DNA glycosylase binds to apurinic sites in DNA but is displaced by human apurinic endonuclease 1. J Biol Chem 1999; 274:67–74.
  Article PubMed CAS Google Scholar
• Waters TR, Swann PF. Kinetics of the action of thymine DNA glycosylase. J Biol Chem 1998; 273:20007–20014.
  Article PubMed CAS Google Scholar
• Baba D, Maita N, Jee JG et al. Crystal structure of thymine DNA glycosylase conjugated to SUMO-1. Nature 2005; 435:979–982.
  Article PubMed CAS Google Scholar
• Steinacher R, Schär P. Functionality of human thymine DNA glycosylase requires SUMO-regulated changes in protein conformation. Curr Biol 2005; 15:616–623.
  Article PubMed CAS Google Scholar
• Giglia G, Dumaz N, Drougard C et al. p53 mutations in skin and internal tumors of xeroderma pigmentosum patients belonging to the complementation group C. Cancer Res 1998; 58:4402–4409.
  PubMed CAS Google Scholar
• Ikehata H, Saito Y, Yanase F et al. Frequent recovery of triplet mutations in UVB-exposed skin epidermis of Xpc-knockout mice. DNA Repair (Amst) 2006; (doi:10.1016/j.dnarep.2006.09.003).
  Google Scholar
• Nahari D, McDaniel LD, Task LB et al. Mutations in the Trp53 gene of UV-irradiated Xpc mutant mice suggest a novel Xpc-dependent DNA repair process. DNA Repair (Amst) 2004; 3:379–386.
  Article PubMed CAS Google Scholar
• Reis AM, Cheo DL, Meira LB et al. Genotype-specific Trp53 mutational analysis in ultraviolet B radiation-induced skin cancers in Xpc and Xpc Trp53 mutant mice. Cancer Res 2000; 60:1571–1579.
  PubMed CAS Google Scholar
• Inga A, Nahari D, Velasco Miguel S et al. A novel p53 mutational hotspot in skin tumors from UV-irradiated Xpc mutant mice alters transactivation functions. Oncogene 2002; 21:5704–5715.
  Article PubMed CAS Google Scholar
• Wijnhoven SWP, Kool HJM, Mullenders LHF et al. Age-dependent spontaneous mutagenesis in Xpc mice defective in nucleotide excision repair. Oncogene 2000; 19:5034–5037.
  Article PubMed CAS Google Scholar
• D’Errico M, Parlanti E, Teson M et al. New functions of XPC in the protection of human skin cells from oxidative damage. EMBO J 2006; 25:4305–4315.
  Article PubMed CAS Google Scholar
• Rünger TM, Epe B, Möller K. Repair of ultraviolet B and singlet oxygen-induced DNA damage in xeroderma pigmentosum cells. J Invest Dermatol 1995; 104:68–73.
  Article PubMed Google Scholar
• Payne A, Chu G. Xeroderma pigmentosum group E binding factor recognizes a broad spectrum of DNA damage. Mutat Res 1994; 310:89–102.
  PubMed CAS Google Scholar