Research Biographies

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Head of Genome Regulation

Javier Caceres

Contact Details

E-mail address:
Telephone: +44 (0)131 651 8699
Fax: +44 (0)131 651 8800
Address: MRC Human Genetics Unit MRC IGMM, University of Edinburgh Western General Hospital, Crewe Road, Edinburgh EH4 2XU
Research Programme: RNA Processing in Eukaryotes





Javier Caceres is Head of the Chromosomes and Gene Expression Section at the MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM) at the University of Edinburgh. He is also a Professor at the School of Molecular, Genetic and Population Health Sciences, University of Edinburgh. He holds a Personal Chair in RNA and Gene Expression. He studied for a B.Sc. and a Ph.D. in Molecular Biology both at the University of Buenos Aires in Argentina. In 1989, he moved to the USA to carry out postdoctoral research in the laboratory of Jim Dahlberg (University of Wisconsin-Madison), where he studied transcriptional control of small nuclear RNA genes. In 1991, he joined Adrian Krainer’s laboratory at Cold Spring Harbor, where he worked on alternative splicing regulation. He joined the MRC Human Genetics Unit in 1997. His laboratory is interested on the regulation of gene expression. Their focus is on the role of RNA-binding proteins (RNABPs) in gene expression and how alterations to RNA processing mechanisms can contribute to human disease. He serves in numerous International reviewing panels and Editorial Boards. He was elected as a member of the European Molecular Biology Organization (EMBO) in 2008 and as a fellow of the Royal Society of Edinburgh in 2011.


Academic Qualifications

  • Master
    • 1985, Master in Science, University of Buenos Aires, Argentina
  • Doctorate
    • 1989, Doctor of Science, University of Buenos Aires, Argentina

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, 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.