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RIDDLE 综合征小鼠模型中的基因组不稳定性、精子发生缺陷、免疫缺陷和癌症。

Genomic instability, defective spermatogenesis, immunodeficiency, and cancer in a mouse model of the RIDDLE syndrome.

机构信息

Ontario Cancer Institute, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Canada.

出版信息

PLoS Genet. 2011 Apr;7(4):e1001381. doi: 10.1371/journal.pgen.1001381. Epub 2011 Apr 28.


DOI:10.1371/journal.pgen.1001381
PMID:21552324
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3084200/
Abstract

Eukaryotic cells have evolved to use complex pathways for DNA damage signaling and repair to maintain genomic integrity. RNF168 is a novel E3 ligase that functions downstream of ATM,γ-H2A.X, MDC1, and RNF8. It has been shown to ubiquitylate histone H2A and to facilitate the recruitment of other DNA damage response proteins, including 53BP1, to sites of DNA break. In addition, RNF168 mutations have been causally linked to the human RIDDLE syndrome. In this study, we report that Rnf168(-/-) mice are immunodeficient and exhibit increased radiosensitivity. Rnf168(-/-) males suffer from impaired spermatogenesis in an age-dependent manner. Interestingly, in contrast to H2a.x(-/-), Mdc1(-/-), and Rnf8(-/-) cells, transient recruitment of 53bp1 to DNA double-strand breaks was abolished in Rnf168(-/-) cells. Remarkably, similar to 53bp1 inactivation, but different from H2a.x deficiency, inactivation of Rnf168 impairs long-range V(D)J recombination in thymocytes and results in long insertions at the class-switch junctions of B-cells. Loss of Rnf168 increases genomic instability and synergizes with p53 inactivation in promoting tumorigenesis. Our data reveal the important physiological functions of Rnf168 and support its role in both γ-H2a.x-Mdc1-Rnf8-dependent and -independent signaling pathways of DNA double-strand breaks. These results highlight a central role for RNF168 in the hierarchical network of DNA break signaling that maintains genomic integrity and suppresses cancer development in mammals.

摘要

真核细胞已经进化出复杂的途径来进行 DNA 损伤信号转导和修复,以维持基因组的完整性。RNF168 是一种新型的 E3 连接酶,它作为 ATM、γ-H2A.X、MDC1 和 RNF8 的下游因子发挥作用。它已被证明可以泛素化组蛋白 H2A,并促进其他 DNA 损伤反应蛋白,包括 53BP1,招募到 DNA 断裂部位。此外,RNF168 突变与人类 RIDDLE 综合征有关。在这项研究中,我们报告 Rnf168(-/-) 小鼠免疫缺陷,并表现出对辐射的敏感性增加。Rnf168(-/-) 雄性小鼠以年龄依赖的方式出现精子发生受损。有趣的是,与 H2a.x(-/-)、Mdc1(-/-)和 Rnf8(-/-)细胞不同,在 Rnf168(-/-)细胞中,53bp1 对 DNA 双链断裂的瞬时募集被消除。值得注意的是,与 53bp1 失活相反,但与 H2a.x 缺乏不同,Rnf168 的失活会损害胸腺细胞中的长距离 V(D)J 重组,并导致 B 细胞的类别转换接头处出现长插入。Rnf168 的缺失会增加基因组不稳定性,并与 p53 失活协同促进肿瘤发生。我们的数据揭示了 Rnf168 的重要生理功能,并支持其在 γ-H2a.x-Mdc1-Rnf8 依赖和独立的 DNA 双链断裂信号通路中的作用。这些结果突出了 RNF168 在维持基因组完整性和抑制哺乳动物癌症发展的 DNA 断裂信号分层网络中的核心作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9da5/3084200/79307177ba1d/pgen.1001381.g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9da5/3084200/71a9024c5281/pgen.1001381.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9da5/3084200/ab2b157993ae/pgen.1001381.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9da5/3084200/2743ee33478a/pgen.1001381.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9da5/3084200/3a7f57bd2eef/pgen.1001381.g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9da5/3084200/da4d7aea198c/pgen.1001381.g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9da5/3084200/fdaaf29cd482/pgen.1001381.g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9da5/3084200/c30ab3fc9161/pgen.1001381.g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9da5/3084200/79307177ba1d/pgen.1001381.g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9da5/3084200/71a9024c5281/pgen.1001381.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9da5/3084200/ab2b157993ae/pgen.1001381.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9da5/3084200/2743ee33478a/pgen.1001381.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9da5/3084200/3a7f57bd2eef/pgen.1001381.g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9da5/3084200/da4d7aea198c/pgen.1001381.g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9da5/3084200/fdaaf29cd482/pgen.1001381.g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9da5/3084200/c30ab3fc9161/pgen.1001381.g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9da5/3084200/79307177ba1d/pgen.1001381.g008.jpg

相似文献

[1]
Genomic instability, defective spermatogenesis, immunodeficiency, and cancer in a mouse model of the RIDDLE syndrome.

PLoS Genet. 2011-4-28

[2]
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Proc Natl Acad Sci U S A. 2013-12-9

[3]
Rnf8 deficiency impairs class switch recombination, spermatogenesis, and genomic integrity and predisposes for cancer.

J Exp Med. 2010-4-12

[4]
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[6]
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[7]
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[8]
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[10]
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[2]
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Cancers (Basel). 2023-11-7

[3]
The ubiquitin codes in cellular stress responses.

Protein Cell. 2024-2-29

[4]
Ubiquitin-Proteasome System-Regulated Protein Degradation in Spermatogenesis.

Cells. 2022-3-21

[5]
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J Clin Endocrinol Metab. 2022-2-17

[6]
The Ubiquitin Proteasome System in Genome Stability and Cancer.

Cancers (Basel). 2021-5-6

[7]
Catalysis-dependent and redundant roles of Dma1 and Dma2 in maintenance of genome stability in Saccharomyces cerevisiae.

J Biol Chem. 2021

[8]
RNF168 regulates R-loop resolution and genomic stability in BRCA1/2-deficient tumors.

J Clin Invest. 2021-2-1

[9]
UBC13-Mediated Ubiquitin Signaling Promotes Removal of Blocking Adducts from DNA Double-Strand Breaks.

iScience. 2020-4-24

[10]
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本文引用的文献

[1]
DNA double-strand break signaling and human disorders.

Genome Integr. 2010-11-5

[2]
Rnf8 deficiency impairs class switch recombination, spermatogenesis, and genomic integrity and predisposes for cancer.

J Exp Med. 2010-4-12

[3]
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J Exp Med. 2010-4-12

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J Exp Med. 2010-4-5

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Cell. 2010-4-1

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Proc Natl Acad Sci U S A. 2009-12-22

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