The University of Queensland

NHMRC Career Development Fellowship (R.D Wright Biomedical CDF Level1): L1 retrotransposition in human development and disease (2013–2015)

Abstract:

In most complex diseases only a minor proportion of susceptibility is due to common genetic variants. Rare or somatic variants of profound effect may play a much larger role than first thought. I hypothesise that L1 retrotransposons, a class of mobile genetic element active in the human genome, produce somatic variants and genomic instability in multiple spatiotemporal contexts including, but not limited to, the brain. By mapping L1 genomic integration sites with retrotransposon capture sequencing (RC-seq) my laboratory recently demonstrated that L1 retrotransposition occurs in the normal human brain during life. Using RC-seq, we are currently examining L1 mobilisation in healthy organs and in tumours. This fellowship will support my efforts to render a "big picture" view of these experiments and a) explain how L1 escapes suppression in somatic cells, b) identify factors that govern the logic of L1 insertional preference and c) determine how L1-mediated mutagenesis results in disease.

Grant type:

NHMRC Career Development Fellowship

Researchers:

• 

  Professor Geoff Faulkner

  Professor in Neuroscience
  

  Queensland Brain Institute

Funded by:

National Health and Medical Research Council