BMC Genomics (Oct 2011)

Establishing the baseline level of repetitive element expression in the human cortex

  • Kramer Melissa,
  • Parla Jennifer,
  • McCombie W,
  • Yolken Robert H,
  • Tyekucheva Svitlana,
  • Wheelan Sarah J,
  • Sabunciyan Sarven

Journal volume & issue
Vol. 12, no. 1
p. 495


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Abstract Background Although nearly half of the human genome is comprised of repetitive sequences, the expression profile of these elements remains largely uncharacterized. Recently developed high throughput sequencing technologies provide us with a powerful new set of tools to study repeat elements. Hence, we performed whole transcriptome sequencing to investigate the expression of repetitive elements in human frontal cortex using postmortem tissue obtained from the Stanley Medical Research Institute. Results We found a significant amount of reads from the human frontal cortex originate from repeat elements. We also noticed that Alu elements were expressed at levels higher than expected by random or background transcription. In contrast, L1 elements were expressed at lower than expected amounts. Conclusions Repetitive elements are expressed abundantly in the human brain. This expression pattern appears to be element specific and can not be explained by random or background transcription. These results demonstrate that our knowledge about repetitive elements is far from complete. Further characterization is required to determine the mechanism, the control, and the effects of repeat element expression.