Laboratory of Molecular Gerontology, National Institute on Aging, NIH, NIH Biomedical Research Center, 251 Bayview Blvd, Baltimore, MD 21224, USA.
DNA Repair (Amst). 2010 Mar 2;9(3):315-24. doi: 10.1016/j.dnarep.2009.12.010. Epub 2010 Jan 12.
Five human RecQ helicases (WRN, BLM, RECQ4, RECQ5, RECQ1) exist in humans. Of these, three are genetically linked to diseases of premature aging and/or cancer. Neither RECQ1 nor RECQ5 has yet been implicated in a human disease. However, cellular studies and genetic analyses of model organisms indicate that RECQ1 (and RECQ5) play an important role in the maintenance of genomic stability. Biochemical studies of purified RECQ1 protein demonstrate that the enzyme catalyzes DNA unwinding and strand annealing, and these activities are likely to be important for its role in DNA repair. RECQ1 also physically and functionally interacts with proteins involved in genetic recombination. In this review, we will summarize our current knowledge of RECQ1 roles in cellular nucleic acid metabolism and propose avenues of investigation for future studies.
人类中存在五种 RecQ 解旋酶（WRN、BLM、RECQ4、RECQ5、RECQ1）。其中三种与早发性衰老和/或癌症相关的遗传疾病有关。RECQ1 和 RECQ5 均未与人类疾病有关。然而，细胞研究和模式生物的遗传分析表明，RECQ1（和 RECQ5）在维持基因组稳定性方面发挥着重要作用。对纯化的 RECQ1 蛋白的生化研究表明，该酶可催化 DNA 解旋和链退火，这些活性可能对其在 DNA 修复中的作用很重要。RECQ1 还与参与遗传重组的蛋白质发生物理和功能相互作用。在这篇综述中，我们将总结我们目前对 RECQ1 在细胞核酸代谢中的作用的认识，并为未来的研究提出研究途径。
