Use of Zebrafish (Danio rerio) as an animal model to elucidate the functional effect of allelic variants identified in patients with differences in sexual development

Abstract

Differences in sex development (DSD) represent a set of congenital disorders in which the development of chromosomal, gonadal, or anatomical sex is atypical. Current knowledge allows establishing a molecular diagnosis in only about 50% of patients. New mechanisms of gene regulation are emerging as new causes of DDS and explaining different phenotypes caused by the same gene mutation. The identification of the molecular causes of DSDs expands the knowledge of the mechanisms of gonadal determination. In this project, we will use new resources to approach the human genome with the development of zebrafish models for the characterization and analysis of potentially deleterious allelic variants identified by the Sanger method or by large-scale sequencing (genome or exome study) in patients with DDS.