Ontology highlight
ABSTRACT:
SUBMITTER: Kamath-Loeb AS
PROVIDER: S-EPMC5343477 | biostudies-literature | 2017 Mar
REPOSITORIES: biostudies-literature
Kamath-Loeb Ashwini S AS Zavala-van Rankin Diego G DG Flores-Morales Jeny J Emond Mary J MJ Sidorova Julia M JM Carnevale Alessandra A Cárdenas-Cortés Maria Del Carmen MD Norwood Thomas H TH Monnat Raymond J RJ Loeb Lawrence A LA Mercado-Celis Gabriela E GE
Scientific reports 20170309
Loss-of-function mutations in the WRN helicase gene cause Werner syndrome- a progeroid syndrome with an elevated risk of cancer and other age-associated diseases. Large numbers of single nucleotide polymorphisms have been identified in WRN. We report here the organismal, cellular, and molecular phenotypes of variant rs3087425 (c. 2500C > T) that results in an arginine to cysteine substitution at residue 834 (R834C) and up to 90% reduction of WRN helicase activity. This variant is present at a hi ...[more]