A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy

M. Stefanini, W. Vermeulen, G. Weeda, S. Giliani, T. Nardo, M. Mezzina, A. Sarasin, J. I. Harper, C. F. Arlett, J. H.J. Hoeijmakers, A. R. Lehmann*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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The sun-sensitive, cancer-prone genetic disorder xeroderma pigmentosum (XP) is associated in most cases with a defect in the ability to carry out excision repair of UV damage. Seven genetically distinct complementation groups (i.e., A-G) have been identified. A large proportion of patients with the unrelated disorder trichothiodystrophy (TTD), which is characterized by hair-shaft abnormalities, as well as by physical and mental retardation, are also deficient in excision repair of UV damage. In most of these cases the repair deficiency is in the same complementation group as is XP group D. We report here on cells from a patient, TTD1BR, in which the repair defect complements all known XP groups (including XP-D). Furthermore, microinjection of various cloned human repair genes fails to correct the repair defect in this cell strain. The defect in TTD1BR cells is therefore in a new gene involved in excision repair in human cells. The finding of a second DNA repair gene that is associated with the clinical features of TTD argues strongly for an involvement of repair proteins in hair-shaft development.

Original languageEnglish
Pages (from-to)817-821
Number of pages5
JournalAmerican Journal of Human Genetics
Issue number4
Publication statusPublished - Oct 1993


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