PDF(Pubmed)
Abstract：
Werner syndrome (WS) is an autosomal recessive disease caused by loss of function of WRN. WS is a segmental progeroid disease and shows early onset or increased frequency of many characteristics of normal aging. WRN possesses helicase, annealing, strand exchange, and exonuclease activities and acts on a variety of DNA substrates, even complex replication and recombination intermediates. Here, we review the genetics, biochemistry, and probably physiological functions of the WRN protein. Although its precise role is unclear, evidence suggests WRN plays a role in pathways that respond to replication stress and maintain genome stability particularly in telomeric regions.
摘要：
Werner综合征（WS）是由WRN功能丧失引起的常染色体隐性遗传疾病。WS是一种节段性早衰性疾病，显示出正常衰老的许多特征的早期发作或频率增加。WRN拥有解旋酶，退火,链交换，和外切核酸酶活性，并作用于各种DNA底物，甚至复杂的复制和重组中间体。这里,我们回顾遗传学，生物化学,可能是WRN蛋白的生理功能。尽管其确切作用尚不清楚，有证据表明,WRN在响应复制应激和维持基因组稳定性的途径中发挥作用,特别是在端粒区.
