Transcription of the 300 copies of ribosomal RNA (rRNA) genes (rDNA) by RNA polymerase I (Pol I) is the first critical step in ribosome biogenesis, and accounts for 35~60% of all cellular transcription. Dysregulation of rDNA transcription is a consistent feature of human cancers. Although rDNA transcription is growth limiting, only a subset of rRNA genes is transcribed at any given time(1, 2).
Our studies utilising the Em-Myc transgenic mouse model of B-cell lymphoma demonstrate a dramatic increase in rDNA transcription rates as B-cells progress towards malignancy. Our laboratory has also demonstrated that inhibition of Pol I transcription by CX-5461 can selectively kill B-lymphoma cells in vivo, while sparing wild type B-cells (3). However, the mechanisms underlying sensitivity to CX-5461 are still unclear.
We have undertaken a systematic approach across a panel of ovarian cancer (OVCA) cell lines to examine their sensitivity to CX-5461. Our preliminary data show that OVCA cell lines display similar sensitivities to Pol I transcription inhibition however they exhibit differential cellular responses, involving either an immediate or a delayed cell cycle arrest. Furthermore, our studies suggest that increased active rDNA chromatin and not rDNA transcription rate per se is associated with a prompt growth inhibitory response to CX-5461 treatment of OVCA cells.
Further, the highly repetitive nature of rRNA genes renders the rDNA loci one of the most fragile sites in the genome and its structural alterations have been reported in over 50% of solid human cancers (4).
Our preliminary data utilizing genome-editing tools to delete rDNA repeats suggests that cancer cells with reduced rDNA content display genomic instability and defects in cell proliferation despite minimal changes in rDNA transcription rate. Thus, rDNA plays an important role in promoting genome stability independent of rDNA transcription. Taken together, our data suggest a role for rDNA instability in cancer development.