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Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder.

The repair-deficient form of trichothiodystrophy (TTD) most often results from mutations in the genes XPB or XPD, encoding helicases of the transcription/repair factor TFIIH. The genetic defect in a third group, TTD-A, is unknown, but is also caused by dysfunctioning TFIIH. None of the TFIIH subunits carry a mutation and TFIIH from TTD-A cells is active in both transcription and repair. Instead, immunoblot and immunofluorescence analyses reveal a strong reduction in the TFIIH concentration. Thus, the phenotype of TTD-A appears to result from sublimiting amounts of TFIIH, probably due to a mutation in a gene determining the complex stability. The reduction of TFIIH mainly affects its repair function and hardly influences transcription.

Pubmed ID: 11062469

Authors

  • Vermeulen W
  • Bergmann E
  • Auriol J
  • Rademakers S
  • Frit P
  • Appeldoorn E
  • Hoeijmakers JH
  • Egly JM

Journal

Nature genetics

Publication Data

November 13, 2000

Associated Grants

None

Mesh Terms

  • Abnormalities, Multiple
  • Cell Line, Transformed
  • Cockayne Syndrome
  • Cysteine Endopeptidases
  • DNA Damage
  • DNA Helicases
  • DNA Repair
  • DNA Repair Enzymes
  • DNA-Binding Proteins
  • Fibroblasts
  • Genetic Complementation Test
  • Genetic Heterogeneity
  • Hair Diseases
  • HeLa Cells
  • Humans
  • Macromolecular Substances
  • Multienzyme Complexes
  • Proteasome Endopeptidase Complex
  • Protein Subunits
  • Proteins
  • Skin Diseases
  • Syndrome
  • Transcription Factor TFIIH
  • Transcription Factors
  • Transcription Factors, TFII
  • Transcription, Genetic
  • Xeroderma Pigmentosum
  • Xeroderma Pigmentosum Group D Protein