WRN mutations in Werner syndrome

Hum Mutat. 1999;13(4):271-9. doi: 10.1002/(SICI)1098-1004(1999)13:4<271::AID-HUMU2>3.0.CO;2-Q.

Abstract

Werner syndrome (WS) is one of a group of human genetic diseases that have recently been linked to deficits in cellular helicase function. We review the spectrum of WS-associated WRN mutations, the organization and potential functions of the WRN protein, and potential mechanistic links between the loss of WRN function and pathogenesis of the WS clinical and cellular phenotypes.

Publication types

  • Comparative Study
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • Chromosomes, Human, Pair 8
  • DNA Helicases / chemistry
  • DNA Helicases / genetics*
  • DNA Mutational Analysis
  • Disease Models, Animal
  • Exodeoxyribonucleases
  • Humans
  • Mice
  • Models, Genetic
  • Mutation*
  • Nuclear Localization Signals
  • Polymorphism, Genetic
  • Protein Processing, Post-Translational
  • RecQ Helicases
  • Werner Syndrome / diagnosis
  • Werner Syndrome / genetics*
  • Werner Syndrome Helicase

Substances

  • Nuclear Localization Signals
  • Exodeoxyribonucleases
  • DNA Helicases
  • RecQ Helicases
  • WRN protein, human
  • Werner Syndrome Helicase