L’étude de la régulation transcriptionnelle de l’expression du gène GATA4 est indispensable à notre compréhension des processus biologiques entourant son activité, autant dans un contexte sain que pathologique. En effet, le facteur de transcription GATA4 agit en tant qu’activateur ou répresseur de gènes cibles spécifiques à chaque tissu au cours du développement. Il occupe donc une place de choix dans la suite d’événements allant de la différenciation et l’identité cellulaire à la morphogenèse de plusieurs organes et la survie cellulaire à l’âge adulte. Puisqu’il est un facteur primordial, il semble évident qu’un défaut dans l’expression du gène ou dans la fonction de la protéine soit lié à certaines pathologies ou anomalies du développement.
Les séquences régulatrices telles que des enhancers sont plus fréquemment l’hôte de SNP ou de mutations, lesquelles sont associées à diverses maladies. Dans ce contexte, il apparait primordial qu’une meilleure compréhension des mécanismes de régulation entourant ces enhancers ait une importance marquée pour plusieurs applications cliniques. L’étude des mécanismes compensatoires mis en place par la cellule pour assurer un niveau protéique adéquat est également un phénomène important qui se doit d’être étudié plus en profondeur. Une dérégulation de ces mécanismes pourrait avoir des conséquences importantes dans l’expression du facteur et dans ses fonctions. Les résultats de cette maîtrise sont un pas en avant vers la compréhension des mécanismes moléculaires à l’origine de la régulation transcriptionnelle de l’expression gène Gata4. Ces informations permettront d’ouvrir une voie dans la compréhension des conséquences pathologiques qui découlent d’une altération de ces mécanismes lors du développement.
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