Mutation Update

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

  1. James E. Cleaver1,*,
  2. Larry H. Thompson2,
  3. Audrey S. Richardson3,
  4. J. Christopher States3

Article first published online: 1 JUL 1999

DOI: 10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6

Issue

Human Mutation

Human Mutation

Volume 14, Issue 1, pages 9–22, 1999

Additional Information

How to Cite

Cleaver, J. E., Thompson, L. H., Richardson, A. S. and States, J. C. (1999), A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. Human Mutation, 14: 9–22. doi: 10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6

Author Information

  1. 1

    UCSF Cancer Center and Department of Dermatology, University of California, San Francisco, California

  2. 2

    Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory, Livermore, California

  3. 3

    Institute of Chemical Toxicology, Wayne State University, Detroit, Michigan

*UCSF Cancer Center and Department of Dermatology, Box 0808, University of California, San Francisco, CA 94143-0808

Publication History

  1. Issue published online: 1 JUL 1999
  2. Article first published online: 1 JUL 1999
  3. Manuscript Accepted: 8 APR 1999
  4. Manuscript Received: 14 DEC 1998

Funded by

  • The Cancer Research Coordinating Committee and the Academic Senate Committee on Research, both of the University of California San Francisco
  • American Cancer Society. Grant Number: CN-156
  • NIH. Grant Numbers: ES08061 (to JEC), R01 ES06460 (to JCS)
  • XP Society, Poughkeepsie, NY (to JEC)
  • High school research apprenticeship. Grant Number: R25 RR12242 (to ASM)
  • US Department of Energy. Grant Number: W-7405-ENG-48 (to LHT).

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Keywords:

  • xeroderma pigmentosum;
  • Cockayne syndrome;
  • trichothiodystrophy;
  • DNA repair;
  • mutation

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 (UVs) 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. Hum Mutat 14:9–22, 1999. © 1999 Wiley-Liss, Inc.

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