Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy

Nat Genet. 1994 Jun;7(2):189-94. doi: 10.1038/ng0694-189.


DNA repair defects in the xeroderma pigmentosum (XP) group D complementation group can be associated with the clinical features of two quite different disorders; XP, a sun-sensitive and cancer-prone disorder, or trichothiodystrophy (TTD) which is characterized by sulphur-deficient brittle hair and a variety of other associated abnormalities, but no skin cancer. The XPD gene product, a DNA helicase, is required for nucleotide excision repair and recent evidence has demonstrated a role in transcription. We have now identified causative mutations in XPD in four TTD patients. The patients are all compound heterozygotes and the locations of the mutations enable us to suggest relationships between different domains in the gene and its roles in excision repair and transcription.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Cell Line
  • DNA / genetics
  • DNA Helicases / genetics
  • DNA Repair / genetics*
  • Genetic Complementation Test
  • Hair Diseases / genetics*
  • Humans
  • Models, Genetic
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Sequence Deletion
  • Transcription, Genetic
  • Xeroderma Pigmentosum / genetics*


  • DNA
  • DNA Helicases