pt en

Carmo-Fonseca, Maria

RNA & Gene Regulation

Understanding the genomic programme of the human organism requires knowledge of how the information encoded in DNA is processed to generate messenger RNAs that can be translated into proteins, the building blocks of the different tissues in the body. In the cell, extensive modification and alternative processing of the initial products of gene transcription can profoundly affect the diversity and function of the proteins that are generated from a single gene.

Our lab is interested in identifying mechanisms of mRNA biogenesis to better understand diseases caused by errors that affect these processes. Making use of a multidisciplinary approach that combines live-cell microscopy, computational modeling, molecular biology, biochemistry and bioinformatics, our group developed expertise to study how the dynamic properties of RNA-protein complexes contribute to post-transcriptional gene regulation.

  • Research Areas

    • Cell and Molecular Biology
    • Biogenesis of messenger RNA
    • RNA splicing
    • Diseases of RNA metabolism
  • Research Team

    • Ongoing Research Projects

      • 2012/2016 PIRSES-GA-2012-318981.
      • 2011/2013 The role of RNA polymerase II in splicing regulation.
      • 2011/2014 PIOF-GA-2010-274037.
      • 2011/2015 PITN-GA-2011-289007.
      • 2012/2015 Splicing and stochasticity in programmed cell death decisions.
      • 2012/2015 Identification and manipulation of molecular pathways relevant for age-dependent tissue regeneration.
      • 2011/2014 Splicing-coupled mechanisms of chromatin remodeling and their global role in transcription.
      • 2011/2014 Oncobiologia: novas ferramentas educativas para as futuras gerações de investigadores clínicos
      • 2013/2014 FCT/CAPES – RNA.
      • 2013/2014 Determining the effect of CLK inhibitors on cancer-associated alternative splicing.
      • 2013/2015 Programme of Cooperation in Science and Technology between China and Portugal.
      • 2013/2014 GAPIC-FML/IGC-2012 - Terapia da Distrofia Muscular de Duchenne por modulação do splicing: teste da eficiência de oligonucleótidos LNA na indução de "exon skipping" e na reversão do fenótipo em modelos de DMD.
    • Prizes

      • 2013 Prémio D. Antónia Ferreira (Portuguese award for Entrepreneurial women)
      • 2010 Prémio Pessoa (Portuguese award in Culture, Art and Sciences)
      • 2007 Gulbenkian Science Award (Fundação Calouste Gulbenkian, Portugal)
      • 2006 Amélia da Silva de Mello Prize for Health Sciences "Altered BMP signalling in a celular model of Oculophanryngeal Muscular Distrophy" (awarded to Patricia Calado, Sandra Caldeira, Anita Gomes, Ana Rita Grosso, Natalie Thorne, Maria Carmo-Fonseca)
      • 2005 Best poster presentation in the 5º Meeting of the European Light Microscopy Initiative (ELMI 2005) (awarded to J. Rino)
      • 2005 Young Investigator Award - Sociedade Portuguesa de Genética Humana- (awarded to P. Calado)
      • 2004 Estímulo à Ciência Award - Fundação Ciência e Tecnologia (awarded to M. Carmo-Fonseca)
      • 2004 Young Investigator Award - Sociedade Portuguesa de Genética Humana (awarded to A. Gomes)
      • 2004 L'Oreal Portugal/Unesco Award For Women in Science (awarded to M. Gama-Carvalho)
    • Selected Publications

      • Braga J, Desterro JM, Carmo-Fonseca M (2004) Intracellular macromolecular mobility measured by fluorescence recovery after photobleaching with confocal laser scanning microscopes. Mol. Biol. Cell 15: 4749-4760. (Times cited: 85)
      • Desterro, J., Keegan, L., Lafarga, M., Berciano, M.T., O'Connell, M., and Carmo-Fonseca, M. (2003) Dynamic association of RNA editing enzymes with the nucleolus. J. Cell Sci. 116: 1805-1818. (Times cited: 63)
      • Calapez, A., Pereira, H.M., Calado, A., Braga, J., Rino, J., Carvalho, C., Tavanez, J.P., Wahle, E., Rosa, A.C., and Carmo-Fonseca, M. (2002) The intranuclear mobility of messenger RNA binding proteins is ATP-dependent and temperature-sensitive. J. Cell Biol. 159:795-805 (Times cited: 78)
      • Calado, A., Tomé, F.M.S., Brais, B., Rouleau, G.A., Kühn, U., Wahle, E., and Carmo-Fonseca, M. (2000) Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA. Human Molecular Genetics 9:2321-2328. (Times cited: 118)
      • Custódio, N., Carmo-Fonseca, M., Geraghty, F., Pereira, H.S., Grosveld, F., Antoniou, M. (1999) Inefficient processing impairs release of RNA from the site of transcription. EMBO J. 18, 2855-2866. (Times cited: 145)

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