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

摘要: The sun-sensitive, cancer-prone genetic disorder xeroderma pigmentosum (XP) is associated in most cases with a defect 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 patients unrelated trichothiodystrophy (TTD), which characterized by hair-shaft abnormalities, as well physical and mental retardation, are also deficient In these deficiency same group XP D. We report here on cells from patient, TTD1BR, complements all known (including XP-D). Furthermore, microinjection various cloned human genes fails correct this cell strain. TTD1BR therefore new gene involved cells. finding second DNA that clinical features TTD argues strongly for an involvement proteins development.