Werner syndrome (WRN) gene variants and their association with altered function and age-associated diseases.
Ageing Res Rev 2017 Nov 13. Epub 2017 Nov 13.
Departments of Pathology and Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Werner syndrome (WS) is a heritable autosomal recessive human disorder characterized by the premature onset of several age-associated pathologies including cancer. The protein defective in WS patients, WRN, is encoded by a member of the human RECQ gene family that contains both a DNA exonuclease and a helicase domain. WRN has been shown to participate in several DNA metabolic pathways including DNA replication, recombination and repair, as well as telomere maintenance and transcription modulation. Read More