Xeroderma pigmentosum group E and DDB2, a smaller subunit of damage-specific DNA binding protein: proposed classification of xeroderma pigmentosum, Cockayne syndrome, and ultraviolet-sensitive syndrome

J Dermatol Sci. 2006 Feb;41(2):87-96. doi: 10.1016/j.jdermsci.2005.10.010. Epub 2005 Dec 1.

Abstract

Xeroderma pigmentosum is a rare photosensitive syndrome that comprises eight different genetic diseases (A to G; variant (V)). Although genotype-phenotype correlations have been evaluated in most XP groups, the relationship between the E subgroup of xeroderma pigmentosum (XP-E) and damage-specific DNA binding protein (DDB) still remained a mystery. Recent studies have provided new insight for XP-E and the role(s) of DDB2, a smaller subunit of DDB. Reclassification studies have confirmed that mutations in DDB2 give rise to XP-E. The mouse model of XP-E demonstrated that DDB2 was well conserved between mouse and human and was critical in controlling proper cell-survival through regulating the tumor suppressor p53-mediated responses after ultraviolet (UV)-irradiation: i.e. defective DDB2 causes the resistance to cell-killing by UV-irradiation due to decreased p53-mediated apoptosis. These phenotypes are unique to XP-E because other XP groups show normal (XP-V) or hypersensitivity (XP-A, B, C, D, F, and G) to UV-irradiation. Thus XP-E is defined as a skin cancer prone disease with unique resistance to UV-irradiation.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Cell Survival
  • Cockayne Syndrome / classification*
  • Cockayne Syndrome / genetics
  • Cockayne Syndrome / pathology
  • DNA Damage*
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / physiology
  • Humans
  • Mice
  • Mice, Knockout
  • Mutation
  • Photosensitivity Disorders / classification*
  • Photosensitivity Disorders / genetics
  • Photosensitivity Disorders / pathology
  • Tumor Suppressor Protein p53 / physiology
  • Ultraviolet Rays*
  • Xeroderma Pigmentosum / classification*
  • Xeroderma Pigmentosum / diagnosis
  • Xeroderma Pigmentosum / genetics

Substances

  • DDB2 protein, human
  • DNA-Binding Proteins
  • Tumor Suppressor Protein p53