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DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy 总被引:17,自引:0,他引:17
Lehmann AR 《Biochimie》2003,85(11):1101-1111
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Liu J Akoulitchev S Weber A Ge H Chuikov S Libutti D Wang XW Conaway JW Harris CC Conaway RC Reinberg D Levens D 《Cell》2001,104(3):353-363
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Jawhari A Lainé JP Dubaele S Lamour V Poterszman A Coin F Moras D Egly JM 《The Journal of biological chemistry》2002,277(35):31761-31767
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The severe xeroderma pigmentosum/Cockayne syndrome (XP/CS) syndrome is caused by mutations in the XPB, XPD and XPG genes that encode the helicase subunits of TFIIH and the 3' endonuclease of nucleotide excision repair (NER). Because XPB and XPD have been implicated in p53-mediated apoptosis, we examined the possible involvement of XPG in this process. After ultraviolet light (UV) irradiation, primary fibroblasts of XP complementation group G (XP-G) individuals with CS enter apoptosis more readily than other NER-deficient cells, but this is unlinked to unrepaired damage. These XP-G/CS cells accumulate p53 post-UV but they fail to accumulate the 90/92 kDa isoforms of Mdm2 and their cellular distribution of Mdm2 is impaired. Apoptosis levels revert to wild type, Mdm2 90/92 kDa isoforms accumulate, and Mdm2 regains its normal post-UV nuclear location in transduced XP-G/CS cells expressing wild-type XPG, but not an XPG catalytic site mutant. These results suggest that XPG suppresses UV-induced apoptosis and that this suppression, most simply, requires its endonuclease function. 相似文献
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Valentyn Oksenych Bruno Bernardes de Jesus Alexander Zhovmer Jean‐Marc Egly Frédéric Coin 《The EMBO journal》2009,28(19):2971-2980
XPB and XPD subunits of TFIIH are central genome caretakers involved in nucleotide excision repair (NER), although their respective role within this DNA repair pathway remains difficult to delineate. To obtain insight into the function of XPB and XPD, we studied cell lines expressing XPB or XPD ATPase‐deficient complexes. We show the involvement of XPB, but not XPD, in the accumulation of TFIIH to sites of DNA damage. Recruitment of TFIIH occurs independently of the helicase activity of XPB, but requires two recently identified motifs, a R‐E‐D residue loop and a Thumb‐like domain. Furthermore, we show that these motifs are specifically involved in the DNA‐induced stimulation of the ATPase activity of XPB. Together, our data demonstrate that the recruitment of TFIIH to sites of damage is an active process, under the control of the ATPase motifs of XPB and suggest that this subunit functions as an ATP‐driven hook to stabilize the binding of the TFIIH to damaged DNA. 相似文献