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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
7
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pubmed:dateCreated |
1998-7-29
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pubmed:abstractText |
The sun-sensitive form of the severe neurodevelopmental, brittle hair disorder trichothiodystrophy (TTD) is caused by point mutations in the essential XPB and XPD helicase subunits of the dual functional DNA repair/basal transcription factor TFIIH. The phenotype is hypothesized to be in part derived from a nucleotide excision repair defect and in part from a subtle basal transcription deficiency accounting for the nonrepair TTD features. Using a novel gene-targeting strategy, we have mimicked the causative XPD point mutation of a TTD patient in the mouse. TTD mice reflect to a remarkable extent the human disorder, including brittle hair, developmental abnormalities, reduced life span, UV sensitivity, and skin abnormalities. The cutaneous symptoms are associated with reduced transcription of a skin-specific gene strongly supporting the concept of TTD as a human disease due to inborn defects in basal transcription and DNA repair.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1097-2765
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
1
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
981-90
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:9651581-Animals,
pubmed-meshheading:9651581-Artificial Gene Fusion,
pubmed-meshheading:9651581-Cells, Cultured,
pubmed-meshheading:9651581-DNA Helicases,
pubmed-meshheading:9651581-DNA Repair,
pubmed-meshheading:9651581-DNA-Binding Proteins,
pubmed-meshheading:9651581-Disease Models, Animal,
pubmed-meshheading:9651581-Female,
pubmed-meshheading:9651581-Growth,
pubmed-meshheading:9651581-Hair,
pubmed-meshheading:9651581-Hair Diseases,
pubmed-meshheading:9651581-Humans,
pubmed-meshheading:9651581-Male,
pubmed-meshheading:9651581-Mice,
pubmed-meshheading:9651581-Mice, Inbred C57BL,
pubmed-meshheading:9651581-Mice, Mutant Strains,
pubmed-meshheading:9651581-Mutagenesis, Site-Directed,
pubmed-meshheading:9651581-Mutation,
pubmed-meshheading:9651581-Proteins,
pubmed-meshheading:9651581-Skin,
pubmed-meshheading:9651581-Survival Analysis,
pubmed-meshheading:9651581-Syndrome,
pubmed-meshheading:9651581-Transcription, Genetic,
pubmed-meshheading:9651581-Transcription Factors,
pubmed-meshheading:9651581-Xeroderma Pigmentosum,
pubmed-meshheading:9651581-Xeroderma Pigmentosum Group D Protein
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pubmed:year |
1998
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pubmed:articleTitle |
A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy.
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pubmed:affiliation |
MGC-Department of Cell Biology and Genetics Erasmus University, Rotterdam, The Netherlands.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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