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Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repairytranscription gene

journal contribution
posted on 2023-06-07, 23:00 authored by Elaine M Taylor, Bernard C Broughton, Elena Botta, Miria Stefanini, Alain Sarasin, Nicolaas G J Jaspers, Heather Fawcett, Susan A Harcourt, Colin F Arlett, Alan LehmannAlan Lehmann
The xeroderma pigmentosum group D (XPD) protein has a dual function, both in nucleotide excision repair of DNA damage and in basal transcription. Mutations in the XPD gene can result in three distinct clinical phenotypes, XP, trichothiodystrophy (TTD), and XP with Cockayne syndrome. To determine if the clinical phenotypes of XP and TTD can be attributed to the sites of the mutations, we have identified the mutations in a large group of TTD and XP-D patients. Most sites of mutations differed between XP and TTD, but there are three sites at which the same mutation is found in XP and TTD patients. Since the corresponding patients were all compound heterozygotes with different mutations in the two alleles, the alleles were tested separately in a yeast complementation assay. The mutations which are found in both XP and TTD patients behaved as null alleles, suggesting that the disease phenotype was determined by the other allele. If we eliminate the null mutations, the remaining mutagenic pattern is consistent with the site of the mutation determining the phenotype.

History

Publication status

  • Published

Journal

Proceedings of the National Academy of Sciences

Publisher

National Academy of Sciences

Issue

16

Volume

94

Page range

8658-8663

ISBN

0027-8424

Department affiliated with

  • Sussex Centre for Genome Damage Stability Publications

Full text available

  • No

Peer reviewed?

  • Yes

Legacy Posted Date

2012-02-06

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