MRC Human Genetics Unit
Medical Research Council Human Genetics Unit

Javier Caceres Research Group

Post-transcriptional regulation of gene expression

Javier Caceres
Professor Javier Caceres - Section Head: Genome Regulation

Section Head: Genome Regulation

Research in a Nutshell 

The flow of genetic information from DNA to RNA to protein involves complex mechanisms of regulation, most of which act downstream of the process of transcription, which produces RNA molecules from a DNA template. Pre-mRNA splicing is the process by which non-coding intervening sequences, termed introns, are excised from precursor RNAs and the precise joining of coding sequences of exons act to form the mature messenger RNA that is exported from the nucleus for translation. Although most RNA molecules are processed in a constitutive fashion, i.e. all mRNA molecules encode the same protein; a further level of complexity is added by Alternative Splicing (AS), where a series of different mRNA molecules can be produced by the differential use of splice sites within the pre-mRNA. Thus, alternative splicing enables a single gene to increase its coding capacity, allowing the synthesis of several structurally and functionally distinct protein isoforms. A single alternative splicing decision can drastically influence gene expression, affecting cellular processes as diverse as signal transduction, transcriptional regulation, cellular transformation and cell death. We are also focusing on surveillance mechanisms that eliminate mRNAs harbouring premature termination codons since accumulation of those would be deleterious for the cell. Finally, we study the mechanism by which short non-coding RNAs (termed microRNAs) regulate the expression of cellular mRNAs. Our research programme is at the basic end of the spectrum and we expect to contribute a greater understanding on how proteins that bind to RNA direct the posttranscriptional regulation of gene expression. This research will illustrate how alterations in RNA binding proteins-mediated gene regulation can contribute to human disease.


Research Programme

Javier Caceres group


Professor Javier F. Caceres Group Leader
Dr Dagmar Longman  Investigator Scientist
Dr Magdalena Maslon  Postdoctoral Scientist
Dr Nele Hug  Postdoctoral Scientist 
Miss Fiona Haward Postdoctoral Scientist 
Miss Kathryn Jones PhD Student
Miss Michaela Raab Masters Student/Visitor 



  • Dr Ian Adams, MRC Human Genetics Unit, University of Edinburgh 
  • Professor Martin Taylor, MRC Human Genetics Unit, University of Edinburgh
  • Dr. Dimitrios Papadopoulos (MRC HGU)
  • Dr Maria Doitsidou (University of Edinburgh)
  • Professor Oscar Llorca (CNIO, Madrid, Spain) 
  • Professor Michael Sattler, Helmholtz Zentrum and Technical University (Munich, Germany)

Partners and Funders

Scientific Themes

RNA biology, Gene expression, Nonsense-mediated decay, Alternative splicing, microRNAs