Molecular and cellular functions of the FANCJ DNA helicase defective in cancer and in Fanconi anemia.
Molecular and cellular functions of the FANCJ DNA helicase defective in cancer and in Fanconi anemia.
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DOI：
10.3389/fgene.2014.00372
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发表时间：
2014
影响因子：
3.7
通讯作者：
Cantor SB
中科院分区：
文献类型：
--
作者：
Brosh RM Jr;Cantor SB
FANCJ DNA解旋酶在遗传性乳腺癌和卵巢癌以及进行性骨髓衰竭障碍Fanconi贫血(FA)中发生突变。FANCJ通过与遗传性乳腺癌相关基因产物BRCA1直接相互作用，与癌症抑制和DNA双链断裂修复有关。FANCJ还作用于链间交联修复的FA途径，并有助于同源重组。FANCJ与许多参与DNA损伤检测和修复的DNA代谢蛋白合作，在细胞周期检查点控制中发挥重要作用。除了在经典的FA途径中发挥作用外，FANCJ被认为还有其他以减轻复制应激为中心的功能。FANCJ解决了已知影响细胞复制和转录的G-四链(G4)DNA结构，并可能在端粒等染色体结构的保存和功能中发挥作用。最近的研究表明，当复制叉遇到DNA损伤或替代DNA结构(如G4)时，FANCJ通过促进复制叉的顺利进行来帮助维持染色质结构和保持表观遗传稳定性。正在进行的研究表明，FANCJ在转录调控、染色体结构和功能以及DNA损伤修复中发挥着重要但仍不清楚的作用，以维持基因组的稳定。这篇综述将综合我们目前对FANCJ的分子和细胞功能的理解，这些功能对染色体的完整性至关重要。
The FANCJ DNA helicase is mutated in hereditary breast and ovarian cancer as well as the progressive bone marrow failure disorder Fanconi anemia (FA). FANCJ is linked to cancer suppression and DNA double strand break repair through its direct interaction with the hereditary breast cancer associated gene product, BRCA1. FANCJ also operates in the FA pathway of interstrand cross-link repair and contributes to homologous recombination. FANCJ collaborates with a number of DNA metabolizing proteins implicated in DNA damage detection and repair, and plays an important role in cell cycle checkpoint control. In addition to its role in the classical FA pathway, FANCJ is believed to have other functions that are centered on alleviating replication stress. FANCJ resolves G-quadruplex (G4) DNA structures that are known to affect cellular replication and transcription, and potentially play a role in the preservation and functionality of chromosomal structures such as telomeres. Recent studies suggest that FANCJ helps to maintain chromatin structure and preserve epigenetic stability by facilitating smooth progression of the replication fork when it encounters DNA damage or an alternate DNA structure such as a G4. Ongoing studies suggest a prominent but still not well-understood role of FANCJ in transcriptional regulation, chromosomal structure and function, and DNA damage repair to maintain genomic stability. This review will synthesize our current understanding of the molecular and cellular functions of FANCJ that are critical for chromosomal integrity.
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DOI：
10.1038/nrg3296
发表时间：
2012-11
期刊：
Nature reviews. Genetics
影响因子：
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作者：
通讯作者：
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影响因子：
16
作者：
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DOI：
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发表时间：
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期刊：
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影响因子：
--
作者：
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DOI：
10.1073/pnas.90.22.10529
发表时间：
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影响因子：
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作者：
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影响因子：
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Oshima J