RECQL5 controls transcript elongation and suppresses genome instability associated with transcription stress

Cell. 2014 May 22;157(5):1037-49. doi: 10.1016/j.cell.2014.03.048. Epub 2014 May 15.


RECQL5 is the sole member of the RECQ family of helicases associated with RNA polymerase II (RNAPII). We now show that RECQL5 is a general elongation factor that is important for preserving genome stability during transcription. Depletion or overexpression of RECQL5 results in corresponding shifts in the genome-wide RNAPII density profile. Elongation is particularly affected, with RECQL5 depletion causing a striking increase in the average rate, concurrent with increased stalling, pausing, arrest, and/or backtracking (transcription stress). RECQL5 therefore controls the movement of RNAPII across genes. Loss of RECQL5 also results in the loss or gain of genomic regions, with the breakpoints of lost regions located in genes and common fragile sites. The chromosomal breakpoints overlap with areas of elevated transcription stress, suggesting that RECQL5 suppresses such stress and its detrimental effects, and thereby prevents genome instability in the transcribed region of genes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Genome, Human
  • Genomic Instability*
  • HEK293 Cells
  • Humans
  • RNA Polymerase II / metabolism
  • RecQ Helicases / metabolism*
  • Transcription Elongation, Genetic*
  • Transcription, Genetic*


  • RECQL5 protein, human
  • RNA Polymerase II
  • RecQ Helicases

Associated data

  • GEO/GSE49134