DNAREP-S-08-00112.pdf (372.91 kB)
Transcriptional changes in trichothiodystrophy cells
journal contribution
posted on 2023-06-07, 23:33 authored by Judith Offman, Nipurna Jina, Therina Theron, Jacky Pallas, Mike Hubank, Alan LehmannAlan LehmannMutations in three of the genes encoding the XPB, XPD and TTDA components of transcription factor TFIIH can result in the clinical phenotype of trichothiodystrophy (TTD). Different mutations in XPB and XPD can instead cause xeroderma pigmentosum (XP). The completely different features of these disorders have been attributed to TTD being a transcription syndrome. In order to detect transcriptional differences between TTD and XP cells from the XP-D complementation group, we have compared gene expression profiles in cultured fibroblasts from normal, XP and TTD donors. Although we detected transcriptional differences between individual cell strains, using an algorithm of moderate stringency, we did not identify any genes whose expression was reproducibly different in proliferating fibroblasts from each type of donor. Following UV-irradiation, many genes were up- and down-regulated in all three cell types. The microarray analysis indicated some apparent differences between the different donor types, but on more detailed inspection, these turned out to be false positives. We conclude that there are minimal differences in gene expression in proliferating fibroblasts from TTD, XP-D and normal donors.
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Publication status
- Published
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- Submitted version
Journal
DNA RepairISSN
1568-7864Publisher
ElsevierExternal DOI
Issue
8Volume
7Page range
1364-1371Department affiliated with
- Sussex Centre for Genome Damage Stability Publications
Full text available
- Yes
Peer reviewed?
- Yes
Legacy Posted Date
2012-02-06Usage metrics
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