RECQL4 in genomic instability and aging

被引:66
作者
Croteau, Deborah L. [1 ]
Singh, Dharmendra Kumar [1 ]
Ferrarelli, Leslie Hoh [1 ]
Lu, Huiming [1 ]
Bohr, Vilhelm A. [1 ]
机构
[1] NIA, Lab Mol Gerontol, NIH, Baltimore, MD 21040 USA
基金
美国国家卫生研究院;
关键词
ROTHMUND-THOMSON-SYNDROME; SYNDROME GENE-PRODUCT; BASE EXCISION-REPAIR; DNA-REPLICATION; OXIDATIVE STRESS; CHROMOSOMAL INSTABILITY; SYNDROME PROTEINS; FAMILY HELICASES; HUMAN-CELLS; MITOCHONDRIA;
D O I
10.1016/j.tig.2012.08.003
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Helicases are ubiquitous proteins that unwind DNA and participate in DNA metabolism including replication, repair, transcription, and chromatin organization. The highly conserved RecQ helicase family proteins are important in these transactions and have been termed the guardians of the genome. Humans have five members of this family: WRN, BLM, RECQL4, RECOL1, and RECQL5. The first three of are associated with premature aging and cancer prone syndromes, but the latter two proteins have not yet been implicated in any human disease. Although WRN and BLM have been fairly well characterized, RECOL4 has only recently been intensively investigated. The sum of this work to date has shown that RECQL4 has helicase activity and localizes to telomeres and mitochondria. In addition, new protein partners are emerging, implicating RECQL4 in novel processes. Here, we describe these recent findings which place RECQL4 at the crossroads of genomic instability and aging processes.
引用
收藏
页码:624 / 631
页数:8
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