XPC (gene)
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.[1] It is on chromosome 3.[2]
Function
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.[1]
Clinical significance
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.[1]
Interactions
XPC (gene) has been shown to interact with ABCA1,[3] CETN2[4] and XPB.[5]
References
- ↑ 1.0 1.1 1.2 "Entrez Gene: XPC xeroderma pigmentosum, complementation group C".
- ↑ http://www.omim.org/entry/278720. Retrieved 12 December 2014. Missing or empty
|title=(help) - ↑ 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 et al. (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
- 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.
- 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.
- Legerski R, Peterson C (1993). "Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C". Nature 360 (6404): 610–610. 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. doi:10.1038/359070a0. PMID 1522891.
- Legerski RJ, Liu P, Li L, Peterson CA, Zhao Y, Leach RJ et al. (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 et al. (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. 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.
- 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 et al. (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 et al. (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. PMC 86862. PMID 11259578. Vancouver style error (help)
- Araki M, Masutani C, Takemura M, Uchida A, Sugasawa K, Kondoh J et al. (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.
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