| http://purl.uniprot.org/citations/26996949 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26996949 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26996949 | http://www.w3.org/2000/01/rdf-schema#comment | "The general transcription factor IIE (TFIIE) is essential for transcription initiation by RNA polymerase II (RNA pol II) via direct interaction with the basal transcription/DNA repair factor IIH (TFIIH). TFIIH harbors mutations in two rare genetic disorders, the cancer-prone xeroderma pigmentosum (XP) and the cancer-free, multisystem developmental disorder trichothiodystrophy (TTD). The phenotypic complexity resulting from mutations affecting TFIIH has been attributed to the nucleotide excision repair (NER) defect as well as to impaired transcription. Here, we report two unrelated children showing clinical features typical of TTD who harbor different homozygous missense mutations in GTF2E2 (c.448G>C [p.Ala150Pro] and c.559G>T [p.Asp187Tyr]) encoding the beta subunit of transcription factor IIE (TFIIEβ). Repair of ultraviolet-induced DNA damage was normal in the GTF2E2 mutated cells, indicating that TFIIE was not involved in NER. We found decreased protein levels of the two TFIIE subunits (TFIIEα and TFIIEβ) as well as decreased phosphorylation of TFIIEα in cells from both children. Interestingly, decreased phosphorylation of TFIIEα was also seen in TTD cells with mutations in ERCC2, which encodes the XPD subunit of TFIIH, but not in XP cells with ERCC2 mutations. Our findings support the theory that TTD is caused by transcriptional impairments that are distinct from the NER disorder XP."xsd:string |
| http://purl.uniprot.org/citations/26996949 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2016.02.008"xsd:string |
| http://purl.uniprot.org/citations/26996949 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2016.02.008"xsd:string |
| http://purl.uniprot.org/citations/26996949 | http://purl.uniprot.org/core/author | "Stefanini M."xsd:string |
| http://purl.uniprot.org/citations/26996949 | http://purl.uniprot.org/core/author | "Stefanini M."xsd:string |
| http://purl.uniprot.org/citations/26996949 | http://purl.uniprot.org/core/author | "Zhao Y."xsd:string |
| http://purl.uniprot.org/citations/26996949 | http://purl.uniprot.org/core/author | "Zhao Y."xsd:string |
| http://purl.uniprot.org/citations/26996949 | http://purl.uniprot.org/core/author | "Baranello L."xsd:string |
| http://purl.uniprot.org/citations/26996949 | http://purl.uniprot.org/core/author | "Baranello L."xsd:string |
| http://purl.uniprot.org/citations/26996949 | http://purl.uniprot.org/core/author | "Seneca S."xsd:string |
| http://purl.uniprot.org/citations/26996949 | http://purl.uniprot.org/core/author | "Seneca S."xsd:string |
| http://purl.uniprot.org/citations/26996949 | http://purl.uniprot.org/core/author | "Stephens R."xsd:string |
| http://purl.uniprot.org/citations/26996949 | http://purl.uniprot.org/core/author | "Stephens R."xsd:string |
| http://purl.uniprot.org/citations/26996949 | http://purl.uniprot.org/core/author | "Lehmann A.R."xsd:string |
| http://purl.uniprot.org/citations/26996949 | http://purl.uniprot.org/core/author | "Lehmann A.R."xsd:string |
| http://purl.uniprot.org/citations/26996949 | http://purl.uniprot.org/core/author | "Nardo T."xsd:string |
| http://purl.uniprot.org/citations/26996949 | http://purl.uniprot.org/core/author | "Nardo T."xsd:string |
| http://purl.uniprot.org/citations/26996949 | http://purl.uniprot.org/core/author | "Levens D."xsd:string |
| http://purl.uniprot.org/citations/26996949 | http://purl.uniprot.org/core/author | "Levens D."xsd:string |
| http://purl.uniprot.org/citations/26996949 | http://purl.uniprot.org/core/author | "Heller E."xsd:string |
| http://purl.uniprot.org/citations/26996949 | http://purl.uniprot.org/core/author | "Heller E."xsd:string |
| http://purl.uniprot.org/citations/26996949 | http://purl.uniprot.org/core/author | "Keymolen K."xsd:string |
| http://purl.uniprot.org/citations/26996949 | http://purl.uniprot.org/core/author | "Keymolen K."xsd:string |