XPB and XPD between transcription and DNA repair

Advances in Experimental Medicine and Biology

Volumn 637, Issue , 2008, Pages 39-46

  Beck, Brian D ^a,b   Hah, Dae Sik ^a   Lee, Suk Hee ^a,b  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Cancer Research Institute   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE 7; CYCLIN H; CYCLINE; HELICASE; PROTEIN P44; PROTEIN P52; PROTEIN P62; RNA POLYMERASE II; UNCLASSIFIED DRUG; XERODERMA PIGMENTOSUM GROUP B; XERODERMA PIGMENTOSUM GROUP D PROTEIN; DNA BINDING PROTEIN; ERCC2 PROTEIN, HUMAN; XPBC ERCC 3 PROTEIN; XPBC-ERCC-3 PROTEIN;

CHROMOSOME 2Q; DNA DAMAGE; DNA REPAIR; ENZYME ACTIVITY; EXCISION REPAIR; EXON; GENE EXPRESSION; GENE MUTATION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; NONHUMAN; ONCOGENE C MYC; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVIEW; STRUCTURE ACTIVITY RELATION; TRANSCRIPTION INITIATION; XERODERMA PIGMENTOSUM; GENETICS; HUMAN; METABOLISM;

DNA HELICASES; DNA REPAIR; DNA-BINDING PROTEINS; HUMANS; TRANSCRIPTION, GENETIC; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

EID: 60549112578     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-0-387-09599-8_5     Document Type: Review

References (62)

1. Drapkin R, Lc Roy G, Cho H et al. Human cyclin-dcpcndcnt kinase-activating kinase exists in three distinct complexes. Proc Natl Acad Sci USA 1996; 93:6488-6493.
2. Reardon J, Ge H, Gibbs E et al. Isolation and characterization of two human transcription factor IIH (TFIIH)-related complexes: ERCC2/CAK and TFIIH. Moi Biol CeU 1996; 10:4231-4246.
3. Schaeffer L, Roy R, Humbert S et al. DNA repair helicase: A component of BTF2 (TFIIH) basic transcription factor. Science 1993; 260:37-38.
4. Park E, Guzder S, Koken M et al. Rad25 (SSL2), the yeast homolog of the human xeroderma pigmentosum group B DNA repair gene, is essential for viability. Proc Natl Acad Sci USA 1992; 89:11416-11420.
5. Wceda G, van Ham R, Vermeulen W et al. A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and cockaynes syndrome. Cell 1990; 62:777-791.
6. Fan L, Arvai A, Cooper P et al. Conserved XPB core structure and motifs for DNA unwinding: Implications for pathway selection of transcription of excision repair. Mol Cell 2006; 22:27-37.
7. Doublie S, Tabor S, Long AM et al. Crystal structure of a bacteriophage T 7 DNA replication complex at 2.2 A resolution. Nature 1998; 391:251-258.
8. Kim Y, Eom SH, Wang J et al. Crystal structmre of Thermus aquaticus DNA polymerase. Nature 1995; 376:612-616.
9. Taylor E, Broughton B, Botta E et al. Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. Proc Natl Acad Sci USA 1997; 94:8658-8663.
10. Bergmann E, Egly JM. Trichothiodystrophy, a transcription syndrome. Trends Genet 2001; 17:279-286.
11. Viprakasit V, Gibbons R, Broughton B et al. Mutations in the general transcription factor TFIIH result in bcta-thalassaemia in individuals with trichothiodystrophy. Hum Mol Gen 2001; 10:2797-2802.
12. Sung P, Bailly V, Weber C et al. Human xeroderma pigmentosum group D gene encodes a DNA polymerase. Nature 1993; 365:852-855.
13. Bicnstock R, Skorvaga M, Mandavilli B et al. 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 2003; 278:5309-5316.
14. Coin F, Marinoni J, Rodolfo C et al. Mutations in the XPD helicase gene result in XP and TTD phcnotypes, preventing interaction between XPD and the p44 subunit of TFIIH. Nat Genetics 1998; 20:184-188.
15. George J, Salazar E, Vreeswijk M et al. Restoration of nucleotide excision repair in a hclicase-deficicnt XPD mutant from intragenic suppression by a trichothiodystrophy mutation. Mol Cell Biol 2001; 21:7355-7365.
16. Tirodc F, Busso D, Coin F ct al. Rcconstitution of the transcription factor TFIIH: Assignment of functions for the three enzymatic subunits, XPB, XPD and cdk7. Mol Ceil 1999; 3:87-95.
17. Moreland R, Tirode F, Yan Q et al. A role for the TFIIH XPB DNA hehcase in promoter escape by RNA polymerase 11. J Biol Chem 1999; 274:22127-22130.
18. Miller G, Hahn S. A DNA-tethered cleavage probe reveals the path for promoter DNA in the yeast preinitiation complex. Nat Struc Mol Biol 2006; 13:603-610.
19. Lin Y, Choi W, Gralla J. TFIIH XPB mutants suggest a unified bacterial-like mechanism for promoter opening but not escape. Nat Struc Mol Biol 2005; 12:603-607.
20. Goodrich J, Tijan R. Transcription factors HE and IIH and ATP direct promoter clearance by RNA polymerase II. Cell 1994; 77:145-156.
21. Hieb A, Baran S, Goodrich J et al. An 8nt RNA triggers a rate-limiting shift of RNA polymerase II complexes into elongation. EMBO J 2006; 25:3100-3109.
22. Duncan R, Bazar L, Michelotti G et al. A sequence-specific, single-strand binding protein activates the far upstream element of c-Myc and defines a new DNA-binding motif. Genes Dev 1994; 8:465-480.
23. Liu J, Akoulitchev S, Weber A et al. Defective interplay of activators and repressors with TFIIH in xeroderma pigmentosum. Cell 2001; 104:353-363.
24. Weber A, Liu J, Collins I et al. TFIIH operates through an expanded proximal promotor to fine-tune c-Myc expression. Mol Cell Biol 2005; 25:147-161.
25. Wang Q, Zhu Q, Wani M et al. Tumor supressor p53 dependant recruitment of nucleotide excision repair factors XPC and TFIIH to DNA damage. DNA Repair 2003; 2:483-499.
26. Riedl T, Hanaoka F, Egly JM. The comings and goings of nucleotide excision repair factors on damaged DNA. EMBO J 2003; 22:5293-5303.
27. Weeda G, van Ham R, Vermeulen W et al. A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and cockaynes syndrome. Cell 1990; 62:777-791.
28. Evans E, Moggs J, Hwang J et al. Mechanism of open complex and dual incision formation by human nucleotide excision repair factors. EMBO J 1997; 16:6559-6573.
29. Coin F, Auriol J, Tapias A et al. Phosphorylation of XPB helicase regulates TFIIH nucleotide excision repair activity. EMBO J 2004; 23:4835-4846.
30. Iyer N, Reagan M, Wu KJ et al. Interactions involving the human RNA polymerase II transcription/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG and cockayne syndrome group B (CSB) Protein Biochem 1996; 35:2157-2167.
31. Gallego M, Sarasin A. Transcription-coupled repair of 8-oxoguanine in human cells and its deficiency in some DNA repair diseases. Biochemie 2003; 85:1073-1082.
32. Botta E, Nardo T, Lehmann A et al. Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. Hum Mol Gen 2002; 11:2919-2928.
33. Coin F, Bergmann E, Tremeau-Bravard A et aL Mutations in XPB and XPD hclicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH. EMBO J 1999; 18:1357-1366.
34. Rudolf J, Makrantoni V, Ingledew WJ et al. Ihe DNA repair hclicases XPD and FancJ have essential iron-sulfur domains. Mol Cell 2006; 23:801-808.
35. Qucille S, Drougard C, Sarasin A et al. Effects of XPD mutations on ultraviolet-induced apoptosis in relation to skin cancer-proneness in repair deficient syndromes. J Invest Dermatol 2001; 117:1162-1170.
36. Aloyz R, Xu ZY, Bello V et al. Regulation of cisplatin resistance and homologous recombinational repair by the TFIIH subunit XPD. Cancer Res 2002; 62:5457-5462.
37. Quintela-Fandino M, Hitt R, Medina P et al. DNA-repair gene polymorphisms predict favorable clinical outcome among patients with advanced squamous cell carcinoma of the head and neck treated with cisplatin-based induction chemotherapy. J Clin One 2006; 24:4333-4339.
38. Chen J, Larochellc S, Li X et al. Xpd/Ercc2 regulates CAK activity and mitotic progression. Nature 2003; 424:228-232.
39. Spillare EA, Wang XW, von Kobbe C et al. Redundancy of DNA hclicases in p53-mediated apoptosis. Oncogene 2006; 25:2119-2123.
40. Yoder K, Sarasin A, Kraemcr K et al. The DNA repair genes XPB and XPD defend cells from retroviral infection. Proc Natl Acad Sci USA 2006; 103:4622-4627.
41. Mam Y, Kobayashi T, Tanaka K et al. BCR binds to the xeroderma pigmentosum group B protein. Biochem Biophys Res Comm 1999; 260:309-312.
42. Takeda N, Shibuya M, Maru Y. The bcr-abl oncoprotein potentially interacts with xeroderma pigmentosum Group B Protein. Proc Natl Acad Sci USA 1999; 96:203-207.
43. Maru Y, Bergmann E, Coin F et al. TFIIH functions are altered by the P210bcr-Abl oncoprotein produced on the Philadelphia chromosome. Mut Res 2001; 483:82-88.
44. Bootsma D, Hoeijmakers J. Engagement with transcription. Nature 1993; 363:114-115.
45. de Boer J, dc Wit J, van Steeg H ct al. A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy. Mol Cell 1998; 1:981-990.
46. Hwang J, Moncollin V, Vermeulen W et al. A 3' - 5helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription. J Biol Chem 1996; 271:15898-15904.
47. Jawhari A, Laine JP, Dubaele S ct al. p52 mediates XPB function within the transcription/repair factor TFIIH. J Biol Chem 2002; 277:31761-31767.
48. Satoh M, Hanawalt P. Competent transcription initiation by RNA polymerase II in cell-free extracts from xeroderma pigmentosum groups B and D in an optimized RNA transcription assay. Biochem Biophys Acta 1997; 1354:241-251.
49. Coin F, Bergmann E, Tremeau-Bravard A et al. Mutations in XPB and XPD Helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH. EMBO J 1999; 18:1357-1366.
50. Winkler G, Araujo S, Fiedler U et al. TFIIH with inactive XPD helicase functions in transcription initiation but is defective in DNA repair. J Biol Chem 2000; 275:4258-4266.
51. Tirode F, Busso D, Coin F et al. Reconstitution of the transcription factor TFIIH: Assignment of functions for the three enzymatic subunits, XPB, XPD and Cdk7. Mol Cell 1999; 3:87-95.
52. Caggana M, Kilgallen J, Conroy J et al. Associations between ERCC2 polymorphisms and gliomas. Cane Epid Biomarkers Prev 2001; 10:355-60.
53. Tomescu D, Kavanagh G, Ha T et al. Nucleotide excision repair gene XPD polymorphisms and genetic predisposition to melanoma. Carcinogenesis 2001; 22:403-408.
54. Benhamou S, Sarasin A. ERCC2/XPD gene polymorphisms and cancer risk. Mutagenesis 2002; 17:463-469.
55. Schabath M, Delclos G, Grossman H et al. Polymorphisms in XPD exons 10 and 23 and bladder cancer risk. Cane Epidemiol Biomarkers Prev 2005; 14:878-884.
56. Broughton B, Steingrimsdottir H, Lehmann A. Five polymorphisms in the coding sequence of the xeroderma pigmentosum group D gene. Mutat Res 1996; 362:209-211.
57. Shen M, Jones I, Mohrenweiser H. Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. Cancer Res 1998; 61:3321-3325.
58. Mohrenweiser H, Xi T, Vazquez-Matias J et al. Identification of 127 amino acid substitution variants in screening 37 DNA repair genes in humans. Cane Epidemiol Biomarkers Prev 2002; 11:1054-1064.
59. Andressoo JO, Mitchell J, de Wit J et al. An Xpd mouse model for the combined xeroderma pigmentosum/ cockayne syndrome exhibiting both cancer predisposition and segmental progeria. Cancer Cell 2006; 10:121-132.
60. Le May N, Dubaele S, De Santis L et al. TFIIH transcription factor, a target for the rift valley hemorrhagic fever virus. Cell 2004; 116:541-550.
61. Twu J, Schloemer R. Transcriptional trans-activating function of hepatitis B virus. J Virol 1987; 61:3448-3453.
62. Jaitovich-Groisman I, Benlimame N, Slagle B et al. Transcriptional regulation of the TFIIH transcription repair components XPB and XPD by the hepatitis B virus x protein in liver cells and transgenic liver tissue. J Biol Chem 2001; 276:14124-14132.