Journal
AGEING RESEARCH REVIEWS
Volume 41, Issue -, Pages 82-97Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.arr.2017.11.003
Keywords
Werner syndrome; Single nucleotide polymorphisms; Age-related phenotypes; Longevity; Cancer
Categories
Funding
- Canadian Institute of Health Research
- U.S. National Cancer Institute [P01 CA077852]
- NATIONAL CANCER INSTITUTE [P01CA077852] Funding Source: NIH RePORTER
Ask authors/readers for more resources
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. Here we review base pair-level genetic variation that has been documented in WRN, with an emphasis on non-synonymous coding single nucleotide polymorphisms (SNPs) and their associations with anthropomorphic features, longevity and disease risk. These associations have been challenging to identify, as many reported WRN SNP associations appear to be further conditioned upon ethnic, age, gender or other environmental co-variables. The WRN variant phenotypic associations identified to date are intriguing, and several are of clear clinical import. Consequently, it will be important to extend these initial associations and to identify the mechanisms and conditions under which specific WRN variants may compromise WRN function to drive cellular and organismal phenotypes as well as disease risk.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available