The xeroderma pigmentosum group D (XPD) gene: One gene, two functions, three diseases

Genes and Development

Volumn 15, Issue 1, 2001, Pages 15-23

  Lehmann, A R ^a  

^a UNIVERSITY OF SUSSEX   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHICKEN OVALBUMIN UPSTREAM PROMOTER TRANSCRIPTION FACTOR; GENE PRODUCT; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

AUTOSOMAL RECESSIVE DISORDER; CELL LINE; CLINICAL FEATURE; COCKAYNE SYNDROME; DNA REPAIR; DNA TRANSCRIPTION; HUMAN; HUMAN CELL; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SYMPTOM; TRICHOTHIODYSTROPHY; XERODERMA PIGMENTOSUM;

ANIMALS; COCKAYNE SYNDROME; DNA HELICASES; DNA REPAIR; DNA-BINDING PROTEINS; HAIR; HAIR DISEASES; HUMANS; MICE; MICE, MUTANT STRAINS; PROTEINS; TRANSCRIPTION FACTOR TFIIH; TRANSCRIPTION FACTORS; TRANSCRIPTION FACTORS, TFII; TRANSCRIPTION, GENETIC; XERODERMA PIGMENTOSUM; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

GALLUS GALLUS;

EID: 0035176067     PISSN: 08909369     EISSN: None     Source Type: Journal    
DOI: 10.1101/gad.859501     Document Type: Review

References (66)

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2. The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect
3. DNA damage causes uncontrolled DNA breakage in cells from patients with combined features of XP-D and Cockayne Syndrome
4. Engagement with transcription
5. Nucleotide excision repair syndromes: Xeroderma pigmentosum, Cockayne Syndrome, and trichothiodystrophy
6. Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: Site of mutation correlates with repair deficiency but gene dosage appears to determine clinical severity
7. The oxidative DNA lesion 8,5′-(S)-cyclo-2′-deoxyadenosine is repaired by the nucleotide excision repair pathway and blocks gene expression in mammalian cells
8. Relationship between pyrimidine dimers, 6-4 photoproducts, repair synthesis and cell survival: Studies using cells from patients with trichothiodystrophy
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10. Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D with the clinical features of xeroderma pigmentosum and Cockayne Syndrome
11. Five polymorphisms in the coding sequence of the xeroderma pigmentosum group D gene
12. Electron crystal structure of the transcription factor and DNA repair complex, core TFIIH
13. Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH
14. Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH
15. Cancer from the outside, aging from the inside: Mouse models to study the consequences of defective nucleotide excision repair
16. A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy
17. Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality
18. Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition
19. Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II
20. Human cyclin-dependent kinase-activating kinase exists in three distinct complexes
21. Polymorphisms in the DNA repair gene XPD: Correlations with risk and age at onset of basal cell carcinoma
22. Mechanism of open complex and dual incision formation by human nucleotide excision repair factors
23. Different removal of ultraviolet photoproducts in genetically related xeroderma pigmentosum and trichothiodystrophy diseases
24. Dual roles of a multiprotein complex from S. cerevisiae in transcription and DNA repair
25. Isolation and characterization of the RAD3 gene of Saccharomyces cerevisiae and inviability of rad3 deletion mutants
26. Nucleotide excision repair II: From yeast to mammals
27. Opening of an RNA polymerase II promoter occurs in two distinct steps and requires the basal transcription factors IIE and IIH
28. Three transitions in the RNA polymerase II transcription complex during initiation
29. Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias
30. The XP-D complementation group. Insight into xeroderma pigmentosum, Cockayne's syndrome, and trichothiodystrophy
31. Mutations in the XPD gene leading to xeroderma pigmentosum symptoms
32. Removal of oxygen free-radical-induced 5′,8-purine cyclodeoxynucleosides from DNA by the nucleotide excision-repair pathway in human cells
33. Photosensibilite et reparation de l'ADN: Possibilite d'une parente nosologique entre xeroderma pigmentosum et syndrome de Cockayne
34. Nucleotide excision repair/TFIIH helicases RAD3 and SSL2 inhibit short-sequence recombination and Ty1 retrotransposition by similar mechanisms
35. Transcription-coupled repair of 8-oxoguanine: Requirement for XPG, TFIIH, and CSB and implications for Cockayne syndrome
36. XPD polymorphisms: Effects on DNA repair proficiency
37. Recovery of normal DNA repair and mutagenesis in trichothiodystrophy cells after transduction of the XPD human gene
38. Interaction of excision repair gene products and mitotic recombination functions in yeast
39. Analysis of the ra3-101 and rad3-102 mutations of Saccharomyces cerevisiae: Implications for structure/function of Rad3 protein
40. Cockayne Syndrome: Review of 140 cases
41. A DNA repair gene required for the incision of damaged DNA is essential for viability in Saccharomyces cerevisiae
42. Isolation and characterization of two human transcription factor IIH (TFIIH)-related complexes: ERCC2/CAK and TFIIH
43. Competent transcription initiation by RNA polymerase II in cell-free extracts from xeroderma pigmentosum groups B and D in an optimized RNA transcription assay
44. DNA repair helicase: A component of BTF2 (TFIIH) basic transcription factor
45. The ERCC2/DNA repair protein is associated with the class II BTF2/TFIIH transcription factor
46. Molecular structure of human TFIIH
47. p44/SSL1, the regulatory subunit of the XPD/RAD3 helicase plays a crucial role in the transcriptional activity of TFIIH
48. Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans
49. Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity
50. DNA repair investigations in nine Italian patients affected by trichothiodystrophy
51. Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy
52. RAD3 protein of Saccharomyces cerevisiae is a DNA helicase
53. Mutation of lysine-48 to arginine in the yeast RAD3 protein abolishes its ATPase and DNA helicase activities but not the ability to bind ATP
54. Human xeroderma pigmentosum group D gene encodes a DNA helicase
55. Defects in the repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum
56. Defects in the DNA repair and transcription gene ERCC2 (XPD) in trichothiodystrophy
57. Xeroderma pigmentosum p48 gene enhances global genomic repair and suppresses UV-induced mutagenesis
58. Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene
59. Reconstitution of the transcription factor TFIIH: Assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7
60. Nucleotide excision repair gene XPD polymorphisms and genetic predisposition to melanoma
61. Deficient repair of the transcribed strand of active genes in Cockayne's syndrome cells
62. Cells from XP-D and XP-D-CS patients exhibit equally inefficient repair of UV-induced damage in transcribed genes but different capacity to recover UV-inhibited transcription
63. Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFIIH)
64. ERCC-2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3
65. TFIIH with inactive XPD helicase functions in transcription initiation but is defective in DNA repair