Xeroderma pigmentosum, complementation group C, also known as XPC, is a protein which in humans is encoded by the XPCgene. XPC is involved in the recognition of bulky DNA adducts in nucleotide excision repair.[4] It is located on chromosome 3.[5]
This gene encodes a component of the nucleotide excision repair (NER) pathway. There are multiple components involved in the NER pathway, including Xeroderma pigmentosum (XP) A-G and V, Cockayne syndrome (CS) A and B, and trichothiodystrophy (TTD) group A, etc. This component, XPC, plays an important role in the early steps of global genome NER, especially in damage recognition, open complex formation, and repair protein complex formation.[4]
The complex of XPC-RAD23B is the initial damage recognition factor in global genomic nucleotide excision repair (GG-NER).[6] XPC-RAD23B recognizes a wide variety of lesions that thermodynamically destabilize DNA duplexes, including UV-induced photoproducts (cyclopyrimidine dimers and 6-4 photoproducts ), adducts formed by environmental mutagens such as benzo[a]pyrene or various aromatic amines, certain oxidative endogenous lesions such as cyclopurines and adducts formed by cancer chemotherapeutic drugs such as cisplatin. The presence of XPC-RAD23B is required for assembly of the other core NER factors and progression through the NER pathway both in vitro and in vivo.[7] Although most studies have been performed with XPC-RAD23B, it is part of a trimeric complex with centrin-2, a calcium-binding protein of the calmodulin family.[7]
Clinical significanceedit
Mutations in this gene or some other NER components result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age.[4]
Canceredit
DNA damage appears to be the primary underlying cause of cancer,[8] and deficiencies in DNA repair genes likely underlie many forms of cancer.[9][10] If DNA repair is deficient, DNA damage tends to accumulate. Such excess DNA damage may increase mutations due to error-prone translesion synthesis. Excess DNA damage may also increase epigenetic alterations due to errors during DNA repair.[11][12] Such mutations and epigenetic alterations may give rise to cancer.
Reductions in expression of DNA repair genes (usually caused by epigenetic alterations such as promoter hypermethylation) are very common in cancers, and are ordinarily much more frequent than mutational defects in DNA repair genes in cancers.[citation needed] The table below shows that XPC expression was frequently epigenetically reduced in bladder cancer and also in non-small cell lung cancer, and also shows that XPC was more frequently reduced in the more advanced stages of these cancers.
Frequency of reduced expression of XPC in cancers, with stages of cancers indicated separately
While epigenetic hypermethylation of the promoter region of the XPC gene was shown to be associated with low expression of XPC,[13] another mode of epigenetic repression of XPC may also occur by over-expression of the microRNA miR-890.[15]
^ abcGRCm38: Ensembl release 89: ENSMUSG00000030094 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ abc"Entrez Gene: XPC xeroderma pigmentosum, complementation group C".
^"OMIM Entry - # 278720 - XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC". Retrieved 12 December 2014.
^Sugasawa K, Ng JM, Masutani C, Iwai S, van der Spek PJ, Eker AP, Hanaoka F, Bootsma D, Hoeijmakers JH (1998). "Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair". Mol. Cell. 2 (2): 223–32. doi:10.1016/s1097-2765(00)80132-x. PMID 9734359.
^ abSchärer OD (Oct 2013). "Nucleotide excision repair in eukaryotes". Cold Spring Harbor Perspectives in Biology. 5 (10): a012609. doi:10.1101/cshperspect.a012609. PMC3783044. PMID 24086042.
^Kastan MB (2008). "DNA damage responses: mechanisms and roles in human disease: 2007 G.H.A. Clowes Memorial Award Lecture". Mol. Cancer Res. 6 (4): 517–24. doi:10.1158/1541-7786.MCR-08-0020. PMID 18403632.
^Harper JW, Elledge SJ (2007). "The DNA damage response: ten years after". Mol. Cell. 28 (5): 739–45. doi:10.1016/j.molcel.2007.11.015. PMID 18082599.
^Dietlein F, Reinhardt HC (2014). "Molecular pathways: exploiting tumor-specific molecular defects in DNA repair pathways for precision cancer therapy". Clin. Cancer Res. 20 (23): 5882–7. doi:10.1158/1078-0432.CCR-14-1165. PMID 25451105.
^O'Hagan HM, Mohammad HP, Baylin SB (2008). "Double strand breaks can initiate gene silencing and SIRT1-dependent onset of DNA methylation in an exogenous promoter CpG island". PLOS Genetics. 4 (8): e1000155. doi:10.1371/journal.pgen.1000155. PMC2491723. PMID 18704159.
^Cuozzo C, Porcellini A, Angrisano T, Morano A, Lee B, Di Pardo A, Messina S, Iuliano R, Fusco A, Santillo MR, Muller MT, Chiariotti L, Gottesman ME, Avvedimento EV (Jul 2007). "DNA damage, homology-directed repair, and DNA methylation". PLOS Genetics. 3 (7): e110. doi:10.1371/journal.pgen.0030110. PMC1913100. PMID 17616978.
^ abcdeYang J, Xu Z, Li J, Zhang R, Zhang G, Ji H, Song B, Chen Z (2010). "XPC epigenetic silence coupled with p53 alteration has a significant impact on bladder cancer outcome". J. Urol. 184 (1): 336–43. doi:10.1016/j.juro.2010.03.044. PMID 20488473.
^ abcYeh KT, Wu YH, Lee MC, Wang L, Li CT, Chen CY, Lee H (2012). "XPC mRNA level may predict relapse in never-smokers with non-small cell lung cancers". Ann. Surg. Oncol. 19 (3): 734–42. doi:10.1245/s10434-011-1992-9. PMID 21861227. S2CID 19154489.
^Hatano K, Kumar B, Zhang Y, Coulter JB, Hedayati M, Mears B, Ni X, Kudrolli TA, Chowdhury WH, Rodriguez R, DeWeese TL, Lupold SE (2015). "A functional screen identifies miRNAs that inhibit DNA repair and sensitize prostate cancer cells to ionizing radiation". Nucleic Acids Res. 43 (8): 4075–86. doi:10.1093/nar/gkv273. PMC4417178. PMID 25845598.
^Shimizu Y, Iwai S, Hanaoka F, Sugasawa K (January 2003). "Xeroderma pigmentosum group C protein interacts physically and functionally with thymine DNA glycosylase". EMBO J. 22 (1): 164–73. doi:10.1093/emboj/cdg016. PMC140069. PMID 12505994.
^Araki M, Masutani C, Takemura M, Uchida A, Sugasawa K, Kondoh J, Ohkuma Y, Hanaoka F (June 2001). "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. 276 (22): 18665–72. doi:10.1074/jbc.M100855200. PMID 11279143.
^Yokoi M, Masutani C, Maekawa T, Sugasawa K, Ohkuma Y, Hanaoka F (March 2000). "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. 275 (13): 9870–5. doi:10.1074/jbc.275.13.9870. PMID 10734143.
Further readingedit
Cleaver JE, Thompson LH, Richardson AS, States JC (1999). "A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy". Hum. Mutat. 14 (1): 9–22. doi:10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6. PMID 10447254. S2CID 24148589.
El-Deiry WS (2003). "Transactivation of repair genes by BRCA1". Cancer Biol. Ther. 1 (5): 490–1. doi:10.4161/cbt.1.5.162. PMID 12496474.
Sugasawa K (2007). "UV-induced ubiquitylation of XPC complex, the UV-DDB-ubiquitin ligase complex, and DNA repair". J. Mol. Histol. 37 (5–7): 189–202. doi:10.1007/s10735-006-9044-7. PMID 16858626. S2CID 817898.
Legerski R, Peterson C (1993). "Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C". Nature. 360 (6404): 610. doi:10.1038/360610b0. PMID 1461286.
Legerski R, Peterson C (1992). "Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C". Nature. 359 (6390): 70–3. Bibcode:1992Natur.359...70L. doi:10.1038/359070a0. PMID 1522891. S2CID 34276965.
Legerski RJ, Liu P, Li L, Peterson CA, Zhao Y, Leach RJ, Naylor SL, Siciliano MJ (1994). "Assignment of xeroderma pigmentosum group C (XPC) gene to chromosome 3p25". Genomics. 21 (1): 266–9. doi:10.1006/geno.1994.1256. PMID 8088800.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Masutani C, Sugasawa K, Yanagisawa J, Sonoyama T, Ui M, Enomoto T, Takio K, Tanaka K, van der Spek PJ, Bootsma D (1994). "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. 13 (8): 1831–43. doi:10.1002/j.1460-2075.1994.tb06452.x. PMC395023. PMID 8168482.
Li L, Bales ES, Peterson CA, Legerski RJ (1994). "Characterization of molecular defects in xeroderma pigmentosum group C". Nat. Genet. 5 (4): 413–7. doi:10.1038/ng1293-413. PMID 8298653. S2CID 24923699.
Li L, Peterson C, Legerski R (1996). "Sequence of the mouse XPC cDNA and genomic structure of the human XPC gene". Nucleic Acids Res. 24 (6): 1026–8. doi:10.1093/nar/24.6.1026. PMC145764. PMID 8604333.
van der Spek PJ, Eker A, Rademakers S, Visser C, Sugasawa K, Masutani C, Hanaoka F, Bootsma D, Hoeijmakers JH (1996). "XPC and human homologs of RAD23: intracellular localization and relationship to other nucleotide excision repair complexes". Nucleic Acids Res. 24 (13): 2551–9. doi:10.1093/nar/24.13.2551. PMC145966. PMID 8692695.
Li L, Lu X, Peterson C, Legerski R (1997). "XPC interacts with both HHR23B and HHR23A in vivo". Mutat. Res. 383 (3): 197–203. doi:10.1016/s0921-8777(97)00002-5. PMID 9164480.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Zeng L, Quilliet X, Chevallier-Lagente O, Eveno E, Sarasin A, Mezzina M (1998). "Retrovirus-mediated gene transfer corrects DNA repair defect of xeroderma pigmentosum cells of complementation groups A, B and C". Gene Ther. 4 (10): 1077–84. doi:10.1038/sj.gt.3300495. PMID 9415314.
Khan SG, Levy HL, Legerski R, Quackenbush E, Reardon JT, Emmert S, Sancar A, Li L, Schneider TD, Cleaver JE, Kraemer KH (1998). "Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia". J. Invest. Dermatol. 111 (5): 791–6. doi:10.1046/j.1523-1747.1998.00391.x. PMID 9804340.
Yokoi M, Masutani C, Maekawa T, Sugasawa K, Ohkuma Y, Hanaoka F (2000). "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. 275 (13): 9870–5. doi:10.1074/jbc.275.13.9870. PMID 10734143.
Batty D, Rapic'-Otrin V, Levine AS, Wood RD (2000). "Stable binding of human XPC complex to irradiated DNA confers strong discrimination for damaged sites". J. Mol. Biol. 300 (2): 275–90. doi:10.1006/jmbi.2000.3857. PMID 10873465.
Araújo SJ, Nigg EA, Wood RD (2001). "Strong functional interactions of TFIIH with XPC and XPG in human DNA nucleotide excision repair, without a preassembled repairosome". Mol. Cell. Biol. 21 (7): 2281–91. doi:10.1128/MCB.21.7.2281-2291.2001. PMC86862. PMID 11259578.
Araki M, Masutani C, Takemura M, Uchida A, Sugasawa K, Kondoh J, Ohkuma Y, Hanaoka F (2001). "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. 276 (22): 18665–72. doi:10.1074/jbc.M100855200. PMID 11279143.
External linksedit
GeneReviews/NIH/NCBI/UW entry on Xeroderma Pigmentosum
December 15, 2023
gene, xeroderma, pigmentosum, complementation, group, also, known, protein, which, humans, encoded, gene, involved, recognition, bulky, adducts, nucleotide, excision, repair, located, chromosome, xpcavailable, structurespdbortholog, search, pdbe, rcsblist, cod. Xeroderma pigmentosum complementation group C also known as XPC is a protein which in humans is encoded by the XPC gene XPC is involved in the recognition of bulky DNA adducts in nucleotide excision repair 4 It is located on chromosome 3 5 XPCAvailable structuresPDBOrtholog search PDBe RCSBList of PDB id codes2A4J 2GGM 2OBH 2RVBIdentifiersAliasesXPC RAD4 XP3 XPCC p125 xeroderma pigmentosum complementation group C XPC complex subunit DNA damage recognition and repair factorExternal IDsOMIM 613208 MGI 103557 HomoloGene 3401 GeneCards XPCGene location Mouse Chr Chromosome 6 mouse 1 Band6 6 D1Start91 466 287 bp 1 End91 492 870 bp 1 RNA expression patternBgeeHumanMouse ortholog n aTop expressed inPaneth cellsubstantia nigraproximal tubuleconjunctival fornixexternal carotid arterycondyleright lung lobeinternal carotid arterybone marrowmedullary collecting ductBioGPSMore reference expression dataGene ontologyMolecular functionDNA binding heteroduplex DNA loop binding bubble DNA binding single stranded DNA binding damaged DNA binding protein binding protein containing complex bindingCellular componentcytoplasm plasma membrane nucleoplasm XPC complex nucleolus nucleotide excision repair factor 2 complex nucleus mitochondrion intracellular membrane bounded organelle nucleotide excision repair complexBiological processnucleotide excision repair regulation of mitotic cell cycle phase transition nucleotide excision repair DNA damage recognition mitotic intra S DNA damage checkpoint signaling cellular response to DNA damage stimulus global genome nucleotide excision repair response to auditory stimulus DNA mismatch repair response to UV B UV damage excision repair DNA repair nucleotide excision repair preincision complex assembly nucleotide excision repair DNA duplex unwindingSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez750822591EnsemblENSG00000154767ENSMUSG00000030094UniProtQ01831P51612RefSeq mRNA NM 001145769NM 004628NM 009531RefSeq protein NP 004619NP 001341655NP 001341656NP 001341658NP 001341659NP 033557Location UCSC n aChr 6 91 47 91 49 MbPubMed search 2 3 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Clinical significance 2 1 Cancer 3 Interactions 4 References 5 Further reading 6 External linksFunction editThis gene encodes a component of the nucleotide excision repair NER pathway There are multiple components involved in the NER pathway including Xeroderma pigmentosum XP A G and V Cockayne syndrome CS A and B and trichothiodystrophy TTD group A etc This component XPC plays an important role in the early steps of global genome NER especially in damage recognition open complex formation and repair protein complex formation 4 The complex of XPC RAD23B is the initial damage recognition factor in global genomic nucleotide excision repair GG NER 6 XPC RAD23B recognizes a wide variety of lesions that thermodynamically destabilize DNA duplexes including UV induced photoproducts cyclopyrimidine dimers and 6 4 photoproducts adducts formed by environmental mutagens such as benzo a pyrene or various aromatic amines certain oxidative endogenous lesions such as cyclopurines and adducts formed by cancer chemotherapeutic drugs such as cisplatin The presence of XPC RAD23B is required for assembly of the other core NER factors and progression through the NER pathway both in vitro and in vivo 7 Although most studies have been performed with XPC RAD23B it is part of a trimeric complex with centrin 2 a calcium binding protein of the calmodulin family 7 Clinical significance editMutations in this gene or some other NER components result in Xeroderma pigmentosum a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age 4 Cancer edit DNA damage appears to be the primary underlying cause of cancer 8 and deficiencies in DNA repair genes likely underlie many forms of cancer 9 10 If DNA repair is deficient DNA damage tends to accumulate Such excess DNA damage may increase mutations due to error prone translesion synthesis Excess DNA damage may also increase epigenetic alterations due to errors during DNA repair 11 12 Such mutations and epigenetic alterations may give rise to cancer Reductions in expression of DNA repair genes usually caused by epigenetic alterations such as promoter hypermethylation are very common in cancers and are ordinarily much more frequent than mutational defects in DNA repair genes in cancers citation needed The table below shows that XPC expression was frequently epigenetically reduced in bladder cancer and also in non small cell lung cancer and also shows that XPC was more frequently reduced in the more advanced stages of these cancers Frequency of reduced expression of XPC in cancers with stages of cancers indicated separately Cancer Frequency Ref Bladder cancer 50 13 Papillary urothelial neoplasm of low malignant potential 35 13 Low grade papillary bladder cancer 42 13 High grade papillary bladder cancer 65 13 Non small cell lung cancer NSCLC 70 14 NSCLC Stage I 62 14 NSCLC Stages II III 77 14 While epigenetic hypermethylation of the promoter region of the XPC gene was shown to be associated with low expression of XPC 13 another mode of epigenetic repression of XPC may also occur by over expression of the microRNA miR 890 15 Interactions editXPC gene has been shown to interact with ABCA1 16 CETN2 17 and XPB 18 References edit a b c GRCm38 Ensembl release 89 ENSMUSG00000030094 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine a b c Entrez Gene XPC xeroderma pigmentosum complementation group C OMIM Entry 278720 XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP C XPC Retrieved 12 December 2014 Sugasawa K Ng JM Masutani C Iwai S van der Spek PJ Eker AP Hanaoka F Bootsma D Hoeijmakers JH 1998 Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair Mol Cell 2 2 223 32 doi 10 1016 s1097 2765 00 80132 x PMID 9734359 a b Scharer OD Oct 2013 Nucleotide excision repair in eukaryotes Cold Spring Harbor Perspectives in Biology 5 10 a012609 doi 10 1101 cshperspect a012609 PMC 3783044 PMID 24086042 Kastan MB 2008 DNA damage responses mechanisms and roles in human disease 2007 G H A Clowes Memorial Award Lecture Mol Cancer Res 6 4 517 24 doi 10 1158 1541 7786 MCR 08 0020 PMID 18403632 Harper JW Elledge SJ 2007 The DNA damage response ten years after Mol Cell 28 5 739 45 doi 10 1016 j molcel 2007 11 015 PMID 18082599 Dietlein F Reinhardt HC 2014 Molecular pathways exploiting tumor specific molecular defects in DNA repair pathways for precision cancer therapy Clin Cancer Res 20 23 5882 7 doi 10 1158 1078 0432 CCR 14 1165 PMID 25451105 O Hagan HM Mohammad HP Baylin SB 2008 Double strand breaks can initiate gene silencing and SIRT1 dependent onset of DNA methylation in an exogenous promoter CpG island PLOS Genetics 4 8 e1000155 doi 10 1371 journal pgen 1000155 PMC 2491723 PMID 18704159 Cuozzo C Porcellini A Angrisano T Morano A Lee B Di Pardo A Messina S Iuliano R Fusco A Santillo MR Muller MT Chiariotti L Gottesman ME Avvedimento EV Jul 2007 DNA damage homology directed repair and DNA methylation PLOS Genetics 3 7 e110 doi 10 1371 journal pgen 0030110 PMC 1913100 PMID 17616978 a b c d e Yang J Xu Z Li J Zhang R Zhang G Ji H Song B Chen Z 2010 XPC epigenetic silence coupled with p53 alteration has a significant impact on bladder cancer outcome J Urol 184 1 336 43 doi 10 1016 j juro 2010 03 044 PMID 20488473 a b c Yeh KT Wu YH Lee MC Wang L Li CT Chen CY Lee H 2012 XPC mRNA level may predict relapse in never smokers with non small cell lung cancers Ann Surg Oncol 19 3 734 42 doi 10 1245 s10434 011 1992 9 PMID 21861227 S2CID 19154489 Hatano K Kumar B Zhang Y Coulter JB Hedayati M Mears B Ni X Kudrolli TA Chowdhury WH Rodriguez R DeWeese TL Lupold SE 2015 A functional screen identifies miRNAs that inhibit DNA repair and sensitize prostate cancer cells to ionizing radiation Nucleic Acids Res 43 8 4075 86 doi 10 1093 nar gkv273 PMC 4417178 PMID 25845598 Shimizu Y Iwai S Hanaoka F Sugasawa K January 2003 Xeroderma pigmentosum group C protein interacts physically and functionally with thymine DNA glycosylase EMBO J 22 1 164 73 doi 10 1093 emboj cdg016 PMC 140069 PMID 12505994 Araki M Masutani C Takemura M Uchida A Sugasawa K Kondoh J Ohkuma Y Hanaoka F June 2001 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 276 22 18665 72 doi 10 1074 jbc M100855200 PMID 11279143 Yokoi M Masutani C Maekawa T Sugasawa K Ohkuma Y Hanaoka F March 2000 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 275 13 9870 5 doi 10 1074 jbc 275 13 9870 PMID 10734143 Further reading editCleaver JE Thompson LH Richardson AS States JC 1999 A summary of mutations in the UV sensitive disorders xeroderma pigmentosum Cockayne syndrome and trichothiodystrophy Hum Mutat 14 1 9 22 doi 10 1002 SICI 1098 1004 1999 14 1 lt 9 AID HUMU2 gt 3 0 CO 2 6 PMID 10447254 S2CID 24148589 El Deiry WS 2003 Transactivation of repair genes by BRCA1 Cancer Biol Ther 1 5 490 1 doi 10 4161 cbt 1 5 162 PMID 12496474 Sugasawa K 2007 UV induced ubiquitylation of XPC complex the UV DDB ubiquitin ligase complex and DNA repair J Mol Histol 37 5 7 189 202 doi 10 1007 s10735 006 9044 7 PMID 16858626 S2CID 817898 Legerski R Peterson C 1993 Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C Nature 360 6404 610 doi 10 1038 360610b0 PMID 1461286 Legerski R Peterson C 1992 Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C Nature 359 6390 70 3 Bibcode 1992Natur 359 70L doi 10 1038 359070a0 PMID 1522891 S2CID 34276965 Legerski RJ Liu P Li L Peterson CA Zhao Y Leach RJ Naylor SL Siciliano MJ 1994 Assignment of xeroderma pigmentosum group C XPC gene to chromosome 3p25 Genomics 21 1 266 9 doi 10 1006 geno 1994 1256 PMID 8088800 Maruyama K Sugano S 1994 Oligo capping a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides Gene 138 1 2 171 4 doi 10 1016 0378 1119 94 90802 8 PMID 8125298 Masutani C Sugasawa K Yanagisawa J Sonoyama T Ui M Enomoto T Takio K Tanaka K van der Spek PJ Bootsma D 1994 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 13 8 1831 43 doi 10 1002 j 1460 2075 1994 tb06452 x PMC 395023 PMID 8168482 Li L Bales ES Peterson CA Legerski RJ 1994 Characterization of molecular defects in xeroderma pigmentosum group C Nat Genet 5 4 413 7 doi 10 1038 ng1293 413 PMID 8298653 S2CID 24923699 Li L Peterson C Legerski R 1996 Sequence of the mouse XPC cDNA and genomic structure of the human XPC gene Nucleic Acids Res 24 6 1026 8 doi 10 1093 nar 24 6 1026 PMC 145764 PMID 8604333 van der Spek PJ Eker A Rademakers S Visser C Sugasawa K Masutani C Hanaoka F Bootsma D Hoeijmakers JH 1996 XPC and human homologs of RAD23 intracellular localization and relationship to other nucleotide excision repair complexes Nucleic Acids Res 24 13 2551 9 doi 10 1093 nar 24 13 2551 PMC 145966 PMID 8692695 Li L Lu X Peterson C Legerski R 1997 XPC interacts with both HHR23B and HHR23A in vivo Mutat Res 383 3 197 203 doi 10 1016 s0921 8777 97 00002 5 PMID 9164480 Suzuki Y Yoshitomo Nakagawa K Maruyama K Suyama A Sugano S 1997 Construction and characterization of a full length enriched and a 5 end enriched cDNA library Gene 200 1 2 149 56 doi 10 1016 S0378 1119 97 00411 3 PMID 9373149 Zeng L Quilliet X Chevallier Lagente O Eveno E Sarasin A Mezzina M 1998 Retrovirus mediated gene transfer corrects DNA repair defect of xeroderma pigmentosum cells of complementation groups A B and C Gene Ther 4 10 1077 84 doi 10 1038 sj gt 3300495 PMID 9415314 Khan SG Levy HL Legerski R Quackenbush E Reardon JT Emmert S Sancar A Li L Schneider TD Cleaver JE Kraemer KH 1998 Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia J Invest Dermatol 111 5 791 6 doi 10 1046 j 1523 1747 1998 00391 x PMID 9804340 Yokoi M Masutani C Maekawa T Sugasawa K Ohkuma Y Hanaoka F 2000 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 275 13 9870 5 doi 10 1074 jbc 275 13 9870 PMID 10734143 Batty D Rapic Otrin V Levine AS Wood RD 2000 Stable binding of human XPC complex to irradiated DNA confers strong discrimination for damaged sites J Mol Biol 300 2 275 90 doi 10 1006 jmbi 2000 3857 PMID 10873465 Araujo SJ Nigg EA Wood RD 2001 Strong functional interactions of TFIIH with XPC and XPG in human DNA nucleotide excision repair without a preassembled repairosome Mol Cell Biol 21 7 2281 91 doi 10 1128 MCB 21 7 2281 2291 2001 PMC 86862 PMID 11259578 Araki M Masutani C Takemura M Uchida A Sugasawa K Kondoh J Ohkuma Y Hanaoka F 2001 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 276 22 18665 72 doi 10 1074 jbc M100855200 PMID 11279143 External links editGeneReviews NIH NCBI UW entry on Xeroderma Pigmentosum Retrieved from https en wikipedia org w index php title XPC gene amp oldid 1187008030, wikipedia, wiki, book, books, library,
