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Zebrafish and the study of rare developmental diseases

Crédit: Pr Éric Samarut

Description du projet

Ribosomopathies are diseases caused by defects in ribosome biogenesis and/or function; they include various afflictions such as anemia, craniofacial abnormalities, and cancer. These diseases have genetic origins, they are very rare, and our knowledge of their molecular bases is quite limited.

We initiated a research project on a novel ribosomopathy that alters the nervous system. Young patients suffer from developmental retardation, hypotonia and early onset dystonia. Genome sequencing lead to the identification of mutations in a gene that is highly conserved in eukaryotes. More recently, studies in the yeast Saccharomyces cerevisiae showed that these mutations perturb ribosome biogenesis. To better understand the neurological disorders caused by these mutations, we sought to use the zebrafish Danio rerio as a genetic model system because it is perfectly amenable to such studies. As a first step, we will generate a knockout model for this gene to analyze the morphological and behavioural consequences in zebrafish. In addition, we will express mutated forms of the gene in embryos in order to follow the early manifestations caused by the mutations. Altogether, our investigations will provide a deeper understanding of the molecular events that trigger a novel rare disease that adds to the growing list of ribosomopathies

Laboratory

Principal investigator: Pr François Dragon (UQAM)
Collaborator: Pr Kessen Patten (INRS)
Laureate: 2019 Collaborative Research Grant

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