DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient
Article first published online: 7 JAN 1999
Copyright © 1997 Wiley-Liss, Inc.
Volume 9, Issue 6, pages 519–525, 1997
How to Cite
Takayama, K., Danks, D. M., Salazar, E. P., Cleaver, J. E. and Weber, C. A. (1997), DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient. Hum. Mutat., 9: 519–525. doi: 10.1002/(SICI)1098-1004(1997)9:6<519::AID-HUMU4>3.0.CO;2-X
- Issue published online: 7 JAN 1999
- Article first published online: 7 JAN 1999
- Manuscript Accepted: 24 JUL 1996
- Manuscript Received: 30 OCT 1995
- March of Dimes. Grant Number: FY95-0338
- U.S. Dept. Energy. Grant Number: W-7405-ENG-48
- DNA repair;
Patient TTD183ME is male and has typical trichothiodystrophy characteristics, including brittle hair, ichthyosis, characteristic face with receding chin and protruding ears, sun sensitivity, and mental and growth retardation. The relative amount of NER carried out by a TTD183ME fibroblast cell strain after ultraviolet (UV) exposure was ∼65% of normal as determined by a method that converts repair patches into quantifiable DNA breaks. UV survival curves show a reduction in survival only at doses greater than 4 J/m2. Nucleotide sequence analysis of the ERCC2 (XPD) DNA repair and transcription gene cDNA revealed both a Leu461-to-Val substitution and a deletion of amino acids 716–730 in one allele and an Ala725-to-Pro substitution in the other allele. The first allele has also been reported in one xeroderma pigmentosum group D patient and two other trichothiodystrophy patients, while the second allele has not been previously reported. Comparisons suggest that the mutation of Ala725 to Pro correlates with TTD with intermediate UV sensitivity. Hum Mutat 9:519–525, 1997. © 1997 Wiley-Liss, Inc.