Transcriptional changes in trichothiodystrophy cells

DNA Repair - Tập 7 - Trang 1364-1371 - 2008
Judith Offman1, Nipurna Jina2, Therina Theron1, Jacky Pallas3, Mike Hubank2, Alan Lehmann1
1Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton BN1 9RQ, UK
2Molecular Haematology & Cancer Biology Unit, Institute of Child Health, 30 Guildford Street, London WC1N 1EH, UK
3Department of Computer Science, University College London, Gower Street, London WC1E 6BT, UK

Tài liệu tham khảo

Kraemer, 1987, Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases, Arch. Dermatol., 123, 241, 10.1001/archderm.1987.01660260111026 Kraemer, 2007, Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype–phenotype relationship, Neuroscience, 145, 1388, 10.1016/j.neuroscience.2006.12.020 Bergmann, 2001, Trichothiodystrophy, a transcription syndrome, Trends Genet., 17, 279, 10.1016/S0168-9525(01)02280-6 Lehmann, 2003, DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy, Biochimie, 85, 1101, 10.1016/j.biochi.2003.09.010 Itin, 1990, Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias, J. Am. Acad. Dermatol., 22, 705, 10.1016/0190-9622(90)70096-Z Lehmann, 1988, Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light, Cancer Res., 48, 6090 Schaeffer, 1994, The ERCC2/DNA repair protein is associated with the class II BTF2/TFIIH transcription factor, EMBO J., 13, 2388, 10.1002/j.1460-2075.1994.tb06522.x Coin, 1999, Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH, EMBO J., 18, 1357, 10.1093/emboj/18.5.1357 Dubaele, 2003, Basal transcription defects discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients, Mol. Cell, 11, 1635, 10.1016/S1097-2765(03)00182-5 Reardon, 1996, Isolation and characterization of two human transcription factor IIH (TFIIH)-related complexes: ERCC2/CAK and TFIIH, Proc. Natl. Acad. Sci. U.S.A., 93, 6482, 10.1073/pnas.93.13.6482 Drapkin, 1996, Human cyclin-dependent kinase-activating kinase exists in three distinct complexes, Proc. Natl. Acad. Sci. U.S.A., 93, 6488, 10.1073/pnas.93.13.6488 Giglia-Mari, 2004, A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A, Nat. Genet., 36, 714, 10.1038/ng1387 Ranish, 2004, Identification of TFB5, a new component of general transcription and DNA repair factor IIH, Nat. Genet., 36, 707, 10.1038/ng1385 Coin, 1998, Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH, Nat. Genet., 20, 184, 10.1038/2491 Bootsma, 1993, DNA repair. Engagement with transcription, Nature, 363, 114, 10.1038/363114a0 Taylor, 1997, Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene, Proc. Natl. Acad. Sci. U.S.A., 94, 8658, 10.1073/pnas.94.16.8658 de Boer, 1998, A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy, Mol. Cell, 1, 981, 10.1016/S1097-2765(00)80098-2 Keriel, 2002, XPD mutations prevent TFIIH-dependent transactivation by nuclear receptors and phosphorylation of RARa, Cell, 109, 125, 10.1016/S0092-8674(02)00692-X Drane, 2004, Selective regulation of vitamin D receptor-responsive genes by TFIIH, Mol. Cell, 16, 187, 10.1016/j.molcel.2004.10.007 Compe, 2005, Dysregulation of the peroxisome proliferator-activated receptor target genes by XPD mutations, Mol. Cell Biol., 25, 6065, 10.1128/MCB.25.14.6065-6076.2005 Compe, 2007, Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH, Nat. Neurosci., 10.1038/nn1990 Viprakasit, 2001, Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy, Hum. Mol. Genet., 10, 2797, 10.1093/hmg/10.24.2797 Broughton, 1994, Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy, Nat. Genet., 7, 189, 10.1038/ng0694-189 Lehmann, 1993, Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation, J. Med. Genet., 30, 679, 10.1136/jmg.30.8.679 Wu, 2004, Preprocessing of oligonucleotide array data, Nat. Biotechnol., 22, 656, 10.1038/nbt0604-656b Storey, 2003, Statistical significance for genomewide studies, Proc. Natl. Acad. Sci. U.S.A., 100, 9440, 10.1073/pnas.1530509100 Smyth, 2004, Linear models and empirical Bayes methods for assessing differential expression in microarray experiments, Stat. Appl. Genet. Mol. Biol., 3, 10.2202/1544-6115.1027 Lee, 2001, Increased frequencies of glutathione S-transferase (GSTM1 and GSTT1) gene deletions in Korean patients with acquired aplastic anemia, Blood, 98, 3483, 10.1182/blood.V98.12.3483 Nakabayashi, 2005, Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy, Am. J. Hum. Genet., 76, 510, 10.1086/428141 Pemble, 1994, Human glutathione S-transferase theta (GSTT1): cDNA cloning and the characterization of a genetic polymorphism, Biochem. J., 300, 271, 10.1042/bj3000271 Doniger, 2003, MAPPFinder: using Gene Ontology and GenMAPP to create a global gene-expression profile from microarray data, Genome Biol., 4, R7, 10.1186/gb-2003-4-1-r7 Hosack, 2003, Identifying biological themes within lists of genes with EASE, Genome Biol., 4, R70, 10.1186/gb-2003-4-10-r70 da Costa, 2005, Transcriptional profiles of unirradiated or UV-irradiated human cells expressing either the cancer-prone XPB/CS allele or the noncancer-prone XPB/TTD allele, Oncogene, 24, 1359, 10.1038/sj.onc.1208288 Selzer, 2002, Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells, Nucleic Acids Res., 30, 782, 10.1093/nar/30.3.782 de Boer, 1999, Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition, Cancer Res., 3489 Hohl, 1995, The small proline-rich proteins constitute a multigene family of differentially regulated cornified cell envelope precursor proteins, J. Invest. Dermatol., 104, 902, 10.1111/1523-1747.ep12606176 Park, 2002, Identification of radiation-specific responses from gene expression profile, Oncogene, 21, 8521, 10.1038/sj.onc.1205977 Koch-Paiz, 2004, Functional genomics of UV radiation responses in human cells, Mutat. Res., 549, 65, 10.1016/j.mrfmmm.2004.01.010 Sesto, 2002, Analysis of the ultraviolet B response in primary human keratinocytes using oligonucleotide microarrays, Proc. Natl. Acad. Sci. U.S.A., 99, 2965, 10.1073/pnas.052678999 Boerma, 2005, Microarray analysis of gene expression profiles of cardiac myocytes and fibroblasts after mechanical stress, ionising or ultraviolet radiation, BMC Genomics, 6, 6, 10.1186/1471-2164-6-6 Botta, 2002, Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy, Hum. Mol. Genet., 11, 2919, 10.1093/hmg/11.23.2919