XPC
گزرودرما پیگمنتوزوم، گروه مکمل سی (انگلیسی: Xeroderma pigmentosum, complementation group C) یک پروتئین است که در انسان توسط ژن «XPC» کُدگذاری میشود[۴] که بر روی کروموزم ۳ واقع شدهاست.[۵]
این پروتئین در شناسایی آسیبها و ترکیبهای اضافی مولکول دیانای در فرایند ترمیم گسیختگی نوکلئوتید نقش بسیار مهمی دارد.[۴]
اهمیت بالینی
جهش در ژن «XPC» سبب بروز بیماری نادر گزرودرما پیگمنتوزوم در سنین کم میشود[۴] که طی آن فرد در صورت مواجهه با اشعهٔ ماورا بنفش نور خورشید (حتی در سایه یا درون اتاق) دچار سرطان پوست میشود. این ژن همچنین احتمالاً در بروز برخی انواع سرطان ریه و سرطان مثانه نقش دارد.
| سرطان | فراوانی | منبع. |
|---|---|---|
| سرطان مثانه | ۵۰٪ | [۶] |
| تومور اُروتلیال پاپیلاری با پتانسیل اندک بدخیمی | ۳۵٪ | [۶] |
| سرطان مثانه پاپیلاری با درجه پایین | ۴۲٪ | [۶] |
| سرطان مثانه پاپیلاری با درجه بالا | ۶۵٪ | [۶] |
| سرطان ریه از نوع سلول غیرکوچک (NSCLC) | ۷۰٪ | [۷] |
| سرطان ریه از نوع سلول غیرکوچک، مرحلۀ ۱ | ۶۲٪ | [۷] |
| سرطان ریه از نوع سلول غیرکوچک، مرحلۀ ۲ و ۳ | ۷۷٪ | [۷] |
منابع
- ↑ ۱٫۰ ۱٫۱ ۱٫۲ 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.
- ↑ ۴٫۰ ۴٫۱ ۴٫۲ "Entrez Gene: XPC xeroderma pigmentosum, complementation group C".
- ↑ "OMIM Entry - # 278720 - XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC". Retrieved 12 December 2014.
- ↑ ۶٫۰ ۶٫۱ ۶٫۲ ۶٫۳ 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.
- ↑ ۷٫۰ ۷٫۱ ۷٫۲ 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.
برای مطالعهٔ بیشتر
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- 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.
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- 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.
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- 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.
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