Attenuation of RNA polymerase II pausing mitigates BRCA1-associated R-loop accumulation and tumorigenesis

نویسندگان

  • Xiaowen Zhang
  • Huai-Chin Chiang
  • Yao Wang
  • Chi Zhang
  • Sabrina Smith
  • Xiayan Zhao
  • Sreejith J Nair
  • Joel Michalek
  • Ismail Jatoi
  • Meeghan Lautner
  • Boyce Oliver
  • Howard Wang
  • Anna Petit
  • Teresa Soler
  • Joan Brunet
  • Francesca Mateo
  • Miguel Angel Pujana
  • Elizabeth Poggi
  • Krysta Chaldekas
  • Claudine Isaacs
  • Beth N Peshkin
  • Oscar Ochoa
  • Frederic Chedin
  • Constantine Theoharis
  • Lu-Zhe Sun
  • Tyler J Curiel
  • Richard Elledge
  • Victor X Jin
  • Yanfen Hu
  • Rong Li
چکیده

Most BRCA1-associated breast tumours are basal-like yet originate from luminal progenitors. BRCA1 is best known for its functions in double-strand break repair and resolution of DNA replication stress. However, it is unclear whether loss of these ubiquitously important functions fully explains the cell lineage-specific tumorigenesis. In vitro studies implicate BRCA1 in elimination of R-loops, DNA-RNA hybrid structures involved in transcription and genetic instability. Here we show that R-loops accumulate preferentially in breast luminal epithelial cells, not in basal epithelial or stromal cells, of BRCA1 mutation carriers. Furthermore, R-loops are enriched at the 5' end of those genes with promoter-proximal RNA polymerase II (Pol II) pausing. Genetic ablation of Cobra1, which encodes a Pol II-pausing and BRCA1-binding protein, ameliorates R-loop accumulation and reduces tumorigenesis in Brca1-knockout mouse mammary epithelium. Our studies show that Pol II pausing is an important contributor to BRCA1-associated R-loop accumulation and breast cancer development.

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عنوان ژورنال:

دوره 8  شماره 

صفحات  -

تاریخ انتشار 2017