Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD ( ERCC 2) repair/transcription gene

• DOI: 10.1073/pnas.94.16.8658
• Publication Date: 2002-07-26T14:42:40Z
• Authors: Elaine M. Taylor; Bernard C. Broughton; Elena Botta; Miria Stefanini; Alain Sarasin; Nicolaas G. J. Ja...; Heather Fawcett; Susan A. Harcourt; Colin F. Arlett; Alan R. Lehmann
• Keywords: Cockayne syndrome; ERCC2; Null allele

The xeroderma pigmentosum group D (XPD) protein has a dual function, both in nucleotide excision repair of DNA damage and basal transcription. Mutations the XPD gene can result three distinct clinical phenotypes, XP, trichothiodystrophy (TTD), XP with Cockayne syndrome. To determine if phenotypes TTD be attributed to sites mutations, we have identified mutations large XP-D patients. Most differed between TTD, but there are at which same mutation is found Since corresponding patients were all compound heterozygotes different two alleles, alleles tested separately yeast complementation assay. behaved as null suggesting that disease phenotype was determined by other allele. If eliminate remaining mutagenic pattern consistent site determining phenotype.