A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy

James E. Cleaver, Larry H. Thompson, Audrey S. Richardson, J. Christopher States

Research output: Contribution to journalArticle

157 Scopus citations

Abstract

The human diseases xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy are caused by mutations in a set of interacting gene products, which carry out the process of nucleotide excision repair. The majority of the genes have now been cloned and many mutations in the genes identified. The relationships between the distribution of mutations in the genes and the clinical presentations can be used for diagnosis and for understanding the functions and the modes of interaction among the gene products. The summary presented here represents currently known mutations that can be used as the basis for future studies of the structure, function, and biochemical properties of the proteins involved in this set of complex disorders, and may allow determination of the critical sites for mutations leading to different clinical manifestations. The summary indicates where more data are needed for some complementation groups that have few reported mutations, and for the groups for which the gene(s) are not yet cloned. These include the Xeroderma pigmentosum (XP) variant, the trichothiodystrophy group A (TTDA), and ultraviolet sensitive syndrome (UV(s)) groups. We also recommend that the XP-group E should be defined explicitly through molecular terms, because assignment by complementation in culture has been difficult. XP-E by this definition contains only those cell lines and patients that have mutations in the small subunit, DDB2, of a damage-specific DNA binding protein.

Original languageEnglish (US)
Pages (from-to)9-22
Number of pages14
JournalHuman Mutation
Volume14
Issue number1
DOIs
StatePublished - 1999
Externally publishedYes

Keywords

  • Cockayne syndrome
  • DNA repair
  • Mutation
  • Trichothiodystrophy
  • Xeroderma pigmentosum

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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