GER – Gene Expression and Regulation

Margarida Gama-Carvalho

The main goal of the Gene Expression and Regulation Group is to explore the regulation of eukaryotic gene expression programs at the transcriptional and post-transcriptional levels and their connection to signaling pathways, using a combination of cell and molecular biology studies with transcriptomics and bioinformatic approaches.

The group aims to tackle scientific problems that are relevant for human health and disease therapy and to explore applications to the development of targeted therapeutic strategies bridging Gene Expression Mechanisms to Systems Function and Therapy Development. The group is composed of four research teams located at the academic campus of FCUL (RNA Biology and Bioinformatics lab, lead by the group coordinator), the INSA campus (‘Signaling pathways in gene expression lab’ and the ‘mRNA Metabolism lab’), and at the University of Trás-os-Montes (‘Genome organization lab’). Each team explores independent but interconnected scientific aims within the overall objectives, contributing towards the development of a coherent research program in the area of eukaryotic control of gene expression.

A significant part of the group’s research involves the application and development of bioinformatic tools for RNA-seq data analysis, supported by a server infrastructure with capacity for analysis of eukaryotic transcriptomes.

Specific research interests include: 1) basic mechanism of gene expression and RNA-based therapy developments; 2) characterization of gene expression pathways underlying rare genetic disorders; 3) role of RNA pathways in neuronal function and neurodegeneration; 4) signaling pathways in cell function and cancer and their connection to splicing; 5) translational control and mRNA surveillance in cell function and cancer; 6) role of repetitive DNA sequences in genome organization and function.

Due to the focus on fundamental pathways for cell function and regulation and the extended use of transcriptomics and bioinformatic approaches, the GE&R group is in a pivotal position within BioISI contributing towards all thematic strands (TS) and being particularly involved in the Biomedicine and Bioinformatics and Modeling TS.

Team

Group Leader: Margarida Gama-Carvalho mhcarvalho@fc.ul.pt

Recent Publications

In Silico Exploration of Mycobacterium tuberculosis Metabolic Networks Shows Host-Associated Convergent Fluxomic Phenotypes

Santamaria G, Rodriguez-Ruiz P, Renau-Mínguez C, Pinto FR, Coscollá M (2022) In Silico Exploration of Mycobacterium tuberculosis Metabolic Networks Shows Host-Associated Convergent Fluxomic Phenotypes. Biomolecules, 12(3), 376. doi: 10.3390/biom12030376

Pro-Inflammatory Cytokines Trigger the Overexpression of Tumour-Related Splice Variant RAC1B in Polarized Colorectal Cells

Pereira JFS, Bessa C, Matos P, Jordan P (2022) Pro-Inflammatory Cytokines Trigger the Overexpression of Tumour-Related Splice Variant RAC1B in Polarized Colorectal Cells. Cancers, 14(6), 1393. doi: 10.3390/cancers14061393

Endogenous VIP VPAC1 Receptor Activation Modulates Hippocampal Theta Burst Induced LTP: Transduction Pathways and GABAergic Mechanisms

Rocha-Caulino A, Rodrigues NC, Ribeiro JA, Cunha-Reis D (2022) Endogenous VIP VPAC1 Receptor Activation Modulates Hippocampal Theta Burst Induced LTP: Transduction Pathways and GABAergic Mechanisms. Biology, 11, 627. doi: 10.3390/biology11050627

Comprehensive Analysis of Retrotransposon Insertions within the Survival Motor Neuron Genes Involved in Spinal Muscular Atrophy

Pinto A, Cunha C, Chaves R, Butchbach MER, Adega F (2022) Comprehensive Analysis of Retrotransposon Insertions within the Survival Motor Neuron Genes Involved in Spinal Muscular Atrophy. Research Square. doi: 10.21203/rs.3.rs-1239736/v1

Developmental bifurcation of human T follicular regulatory cells

Kumar S, Fonseca VR, Ribeiro F, Basto AP, Água-Doce A, Monteiro M, Elessa D, Miragaia RJ, Gomes T, Piaggio E, Segura E, Gama-Carvalho M, Teichmann SA, Graca L. (2021) Sci Immunol. 6(59):eabd8411.

Characterization of Two Variants at Met 1 of the Human LDLR Gene Encoding the Same Amino Acid but Causing Different Functional Phenotypes

Graça, Rafael, Rafael Fernandes, Ana C. Alves, Juliane Menezes, Luísa Romão, and Mafalda Bourbon. (2021) Biomedicines 9, no. 9: 1219. https://doi.org/10.3390/biomedicines9091219