Spatiotemporal characterization of the prr12 paralogues in zebrafish
Abstract
Pathogenic variants in the human PRR12 (Proline Rich 12) gene are associated with PRR12-related Neuroocular Syndrome. However, little is known about the gene/protein function. The zebrafish was utilized to address this, as its attributes place it as a premier model to study genes involved in human development and disease. In situ hybridization and RT-PCR of embryos and larvae, and qRT-PCR of adult tissues revealed the spatial and temporal distributions of the prr12 paralogues: prr12a and prr12b. Both paralogues were detected from the maternal and zygotic transcriptomes in a global and diffuse expression pattern, and there was enrichment of prr12a in the ovary and prr12b in the male mesencephalon of adult zebrafish. Overall, research into the PRR12 zebrafish orthologues, provides new information to help elucidate its function in humans; and more importantly, it sets the stage for using zebrafish as a model to study this and other rare human disorders.