pt en

Carmo-Fonseca, Maria

RNA & Gene Regulation


Gene regulation is central to all biology. RNA molecules, with their ability to both encode information and exert catalytic activities, play a key role in the regulation of gene expression.

Our group aims to discover molecular pathways and mechanisms implicating RNA in human health and disease. More specifically, we study RNA splicing and its role in the regulation of gene expression in cancer and genetic diseases, and we are exploring new medical applications for RNA.

  • Research Areas

    • Cell Biology
    • Genomics
    • RNA splicing
    • RNA in disease
  • Research Team

    • Ongoing Research Projects

      • 2014/2017  Epigenetics and alternative splicing: Role in immune T cell differenciation and leukemogenesis
      • 2015/2020 Exploring the role of IncRNAs and chromatin modifying complexes for the establishment of defined chromatin states
      • 2015/2020  The non-coding transcriptome in stemness and aging
      • 2016/2017  Pesquisa de mutações nos genes IDH
      • 2016/2019  The non-coding transcriptome in stemness and aging
      • 2016/2019  Molecular constraints to pre-mRNA splicing in fast dividing cells
      • 2016/2019  Making sense of antisense transcription
      • 2016/2019  Comprehensive study of the dynamics of epigenetic processes involving lncRNAs during iPSC reprogramming
      • 2016/2019  PRECISE: Accelarating progress toward the new era of precision medicine
      • 2017/2021  LysoMod: Genetic and small molecule modifiers of Lysomomal Function
      • 2017/2024  The Discoveries CTR: Implementation of the discoveries centre for regenerative and precision medicine, a new centre of excellence in Portugal
    • 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

      • Nojima T, Gomes T, Grosso AR, Kimura H, Dye MJ, Dhir S, Carmo-Fonseca M, and Proudfoot N. (2015) Mammalian NET-seq reveals genome-wide nascent transcription coupled to RNA processing. Cell 161: 526-540. (Journal IF 32.2; Citations: 131)


      • Martin, RM, Rino, J, Carvalho, C, Kirchhausen, T, Carmo-Fonseca, M. (2013) Live-cell visualization of pre-mRNA splicing with single-molecule sensitivity. Cell Reports 4 (6): 1144-1155. (Journal IF 8.3; Citations: 70)


      • de Almeida, SF, Grosso, AR, Koch, F, Fenouil, R, Carvalho, S, Andrade, J, Levezinho, H, Gut, M, Eick, D, Gut, I, Andrau, JC, Ferrier P, Carmo-Fonseca, M (2011) Splicing enhances recruitment of methyltransferase HYPB/Setd2 and methylation of histone H3 Lys36. Nature Struct. Mol. Biol. 18 (9): 977-983. (Journal IF 13.3; Citations: 175)


      • Martins, SB, Rino, J., Carvalho, T., Carvalho, C., Yoshida, M., Klose JM, de Almeida, SF, Carmo-Fonseca, M. (2011) Spliceosome assembly is coupled to RNA polymerase II dynamics at the 3’ end of human genes. Nature Struct. Mol. Biol. 18 (10): 1115-1123. (Journal IF 13.3; Citations: 62)


      • Grosso, A.R., Gomes, A.Q., Barbosa-Morais, N.L., Caldeira, S., Thorne, N.P., Grech, G., von Lindern, M., and Carmo-Fonseca, M (2008) Tissue-specific splicing factor gene expression signatures. Nucleic Acids Research 36: 4823-32. (Journal IF 9.1; Citations: 116)

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