BRCA1 突变细胞中串联重复形成的机制。

Mechanism of tandem duplication formation in BRCA1-mutant cells.

作者信息

Willis Nicholas A, Frock Richard L, Menghi Francesca, Duffey Erin E, Panday Arvind, Camacho Virginia, Hasty E Paul, Liu Edison T, Alt Frederick W, Scully Ralph

机构信息

Department of Medicine, Division of Hematology-Oncology and Cancer Research Institute, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts, USA.

Boston Children's Hospital, Howard Hughes Medical Institute and Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.

出版信息

Nature. 2017 Nov 30;551(7682):590-595. doi: 10.1038/nature24477. Epub 2017 Nov 22.

Abstract

Small, approximately 10-kilobase microhomology-mediated tandem duplications are abundant in the genomes of BRCA1-linked but not BRCA2-linked breast cancer. Here we define the mechanism underlying this rearrangement signature. We show that, in primary mammalian cells, BRCA1, but not BRCA2, suppresses the formation of tandem duplications at a site-specific chromosomal replication fork barrier imposed by the binding of Tus proteins to an array of Ter sites. BRCA1 has no equivalent role at chromosomal double-stranded DNA breaks, indicating that tandem duplications form specifically at stalled forks. Tandem duplications in BRCA1 mutant cells arise by a replication restart-bypass mechanism terminated by end joining or by microhomology-mediated template switching, the latter forming complex tandem duplication breakpoints. Solitary DNA ends form directly at Tus-Ter, implicating misrepair of these lesions in tandem duplication formation. Furthermore, BRCA1 inactivation is strongly associated with ~10 kilobase tandem duplications in ovarian cancer. This tandem duplicator phenotype may be a general signature of BRCA1-deficient cancer.

摘要

在与BRCA1相关而非BRCA2相关的乳腺癌基因组中,存在大量约10千碱基的微小同源性介导的串联重复。在此,我们确定了这种重排特征背后的机制。我们发现,在原代哺乳动物细胞中,BRCA1而非BRCA2可抑制由Tus蛋白与一系列Ter位点结合所形成的位点特异性染色体复制叉屏障处串联重复的形成。BRCA1在染色体双链DNA断裂处没有同等作用,这表明串联重复是在停滞的复制叉处特异性形成的。BRCA1突变细胞中的串联重复通过由末端连接终止的复制重启-绕过机制或通过微小同源性介导的模板转换产生,后者形成复杂的串联重复断点。单独的DNA末端直接在Tus-Ter处形成,这表明这些损伤的错误修复与串联重复形成有关。此外,BRCA1失活与卵巢癌中约10千碱基的串联重复密切相关。这种串联重复表型可能是BRCA1缺陷型癌症的一个普遍特征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65c0/5728692/766f2f8607e4/nihms911888f6.jpg

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