XPD Helicase Structures and Activities: Insights into the Cancer and Aging Phenotypes from XPD Mutations

Bienstock, 2003, Structural and functional characterization of the human DNA repair helicase XPD by comparative molecular modeling and site-directed mutagenesis of the bacterial repair protein UvrB, J. Biol. Chem., 278, 5309, 10.1074/jbc.M210159200 Boal, 2005, DNA-bound redox activity of DNA repair glycosylases containing [4Fe-4S] clusters, Biochemistry, 44, 8397, 10.1021/bi047494n Bootsma, 1993, DNA repair. Engagement with transcription, Nature, 363, 114, 10.1038/363114a0 Botta, 2002, Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy, Hum. Mol. Genet., 11, 2919, 10.1093/hmg/11.23.2919 Büttner, 2007, Structural basis for DNA duplex separation by a superfamily-2 helicase, Nat. Struct. Mol. Biol., 14, 647, 10.1038/nsmb1246 Cantor, 2004, The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations, Proc. Natl. Acad. Sci. USA, 101, 2357, 10.1073/pnas.0308717101 Chapados, 2004, Structural basis for FEN-1 substrate specificity and PCNA-mediated activation in DNA replication and repair, Cell, 116, 39, 10.1016/S0092-8674(03)01036-5 Clarkson, 2005, Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: An appraisal, DNA Repair (Amst.), 4, 1068, 10.1016/j.dnarep.2005.07.001 Coin, 2007, Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repair, Mol. Cell, 26, 245, 10.1016/j.molcel.2007.03.009 de Boer, 2002, Premature aging in mice deficient in DNA repair and transcription, Science, 296, 1276, 10.1126/science.1070174 Dubaele, 2003, Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients, Mol. Cell, 11, 1635, 10.1016/S1097-2765(03)00182-5 Fan, 2006, Conserved XPB core structure and motifs for DNA unwinding: implications for pathway selection of transcription or excision repair, Mol. Cell, 22, 27, 10.1016/j.molcel.2006.02.017 Hoeijmakers, 2001, Genome maintenance mechanisms for preventing cancer, Nature, 411, 366, 10.1038/35077232 Hopfner, 2000, Structural biology of Rad50 ATPase: ATP-driven conformational control in DNA double-strand break repair and the ABC-ATPase superfamily, Cell, 101, 789, 10.1016/S0092-8674(00)80890-9 Ito, 2007, XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: Implications for Cockayne syndrome in XP-G/CS patients, Mol. Cell, 26, 231, 10.1016/j.molcel.2007.03.013 Lainé, 2006, TFIIH enzymatic activities in transcription and nucleotide excision repair, Methods Enzymol., 408, 246, 10.1016/S0076-6879(06)08015-3 Lee, 2006, UvrD helicase unwinds DNA one base pair at a time by a two-part power stroke, Cell, 127, 1349, 10.1016/j.cell.2006.10.049 Lehmann, 2001, The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases, Genes Dev., 15, 15, 10.1101/gad.859501 Levran, 2005, The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia, Nat. Genet., 37, 931, 10.1038/ng1624 Ludovic, 2006, Molecular Mechanisms of Mammalian Global Genome Nucleotide Excision Repair, Chem. Rev., 106, 253, 10.1021/cr040483f Outten, 2007, Iron-sulfur clusters as oxygen-responsive molecular switches, Nat. Chem. Biol., 3, 206, 10.1038/nchembio0407-206 Pugh, 2008, The iron-containing domain is essential in Rad3 helicases for coupling of ATP hydrolysis to DNA translocation and for targeting the helicase to the single-stranded DNA-double-stranded DNA junction, J. Biol. Chem., 283, 1732, 10.1074/jbc.M707064200 Romero, 2001, Sequence complexity of disordered protein, Proteins, 42, 38, 10.1002/1097-0134(20010101)42:1<38::AID-PROT50>3.0.CO;2-3 Rudolf, 2006, The DNA repair helicases XPD and FancJ have essential iron-sulfur domains, Mol. Cell, 23, 801, 10.1016/j.molcel.2006.07.019 Sarker, 2005, Recognition of RNA polymerase II and transcription bubbles by XPG, CSB, and TFIIH: Insights for transcription-coupled repair and Cockayne Syndrome, Mol. Cell, 20, 187, 10.1016/j.molcel.2005.09.022 Schaeffer, 1993, Dna-repair helicase - a component of btf2 (tfiih) basic transcription factor, Science, 260, 58, 10.1126/science.8465201 Schumacher, 2008, Age to survive: DNA damage and aging, Trends Genet., 24, 77, 10.1016/j.tig.2007.11.004 Shin, 2003, Full-length archaeal Rad51 structure and mutants: mechanisms for RAD51 assembly and control by BRCA2, EMBO J., 22, 4566, 10.1093/emboj/cdg429 Singleton, 2007, Structure and mechanism of helicases and nucleic acid translocases, Annu. Rev. Biochem., 76, 23, 10.1146/annurev.biochem.76.052305.115300 Sung, 1993, Human xeroderma-pigmentosum group-d gene encodes a dna helicase source, Nature, 365, 852, 10.1038/365852a0 Taylor, 1997, Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene, Proc. Natl. Acad. Sci. USA, 94, 8658, 10.1073/pnas.94.16.8658 Thayer, 1995, Novel DNA binding motifs in the DNA-repair enzyme endonuclease III structure, EMBO J., 14, 4108, 10.1002/j.1460-2075.1995.tb00083.x Theron, 2005, Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome, Mol. Cell. Biol., 25, 8368, 10.1128/MCB.25.18.8368-8378.2005 Tirode, 1999, Reconstitution of the transcription factor TFIIH: Assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7, Mol. Cell, 3, 87, 10.1016/S1097-2765(00)80177-X Vermeulen, 2001, A temperature-sensitive disorder in basal transcription and DNA repair in humans, Nat. Genet., 27, 299, 10.1038/85864 Winkler, 2000, TFIIH with inactive XPD helicase functions in transcription initiation but is defective in DNA repair, J. Biol. Chem., 275, 4258, 10.1074/jbc.275.6.4258 Yamagata, 2007, Hexameric structures of the archaeal secretion ATPase GspE and implications for a universal secretion mechanism, EMBO J., 26, 878, 10.1038/sj.emboj.7601544 Yavin, 2006, Electron trap for DNA-bound repair enzymes: a strategy for DNA-mediated signaling, Proc. Natl. Acad. Sci. USA, 103, 3610, 10.1073/pnas.0600239103