多方面的范可尼贫血信号通路。
Multifaceted Fanconi Anemia Signaling.
机构信息
University of Hawaii Cancer Center, University of Hawaii, Honolulu, HI, USA; Graduate Program of Molecular Biosciences and Bioengineering, University of Hawaii, Honolulu, HI, USA.
Department of Laboratory Medicine and Pathology, Mayo Clinic Foundation, USA.
出版信息
Trends Genet. 2018 Mar;34(3):171-183. doi: 10.1016/j.tig.2017.11.006. Epub 2017 Dec 16.
Abstract
In 1927 Guido Fanconi described a hereditary condition presenting panmyelopathy accompanied by short stature and hyperpigmentation, now better known as Fanconi anemia (FA). With this discovery the genetic and molecular basis underlying FA has emerged as a field of great interest. FA signaling is crucial in the DNA damage response (DDR) to mediate the repair of damaged DNA. This has attracted a diverse range of investigators, especially those interested in aging and cancer. However, recent evidence suggests FA signaling also regulates functions outside the DDR, with implications for many other frontiers of research. We discuss here the characteristics of FA functions and expand upon current perspectives regarding the genetics of FA, indicating that FA plays a role in a myriad of molecular and cellular processes.
摘要
1927 年，Guido Fanconi 描述了一种遗传性疾病，表现为全髓病，伴有身材矮小和色素沉着过度，现在被称为范可尼贫血（FA）。随着这一发现，FA 的遗传和分子基础已经成为一个非常感兴趣的领域。FA 信号在 DNA 损伤反应（DDR）中至关重要，以介导受损 DNA 的修复。这吸引了众多不同领域的研究人员，尤其是对衰老和癌症感兴趣的研究人员。然而，最近的证据表明，FA 信号也调节 DDR 之外的功能，这对许多其他研究领域都有影响。我们在这里讨论 FA 功能的特点，并扩展关于 FA 遗传学的当前观点，表明 FA 在许多分子和细胞过程中发挥作用。
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Oncotarget. 2017 Mar 3;8(31):50930-50940. doi: 10.18632/oncotarget.15871. eCollection 2017 Aug 1.
2
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J Clin Invest. 2017 Aug 1;127(8):3013-3027. doi: 10.1172/JCI92069. Epub 2017 Jul 10.
3
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4
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Mol Cell. 2017 Jun 1;66(5):622-634.e8. doi: 10.1016/j.molcel.2017.04.022.
5
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