DEVELOPING CURATED RESOURCES FOR RASOPATHIES RESEARCH

Abstract

The RASopathies are a diverse set of genetic diseases that are caused by mutations to the RAS/MAPK signaling pathway, which is crucial in embryonic and early development. Biomedical model studies are important for developing understanding of mechanisms of the RAS/MAPK pathway and their individual effects on disease phenotype, however these studies are hindered by lack of standard nomenclature and functional annotations. We selected chicken as a comparative model, and analyzed a human RAS/MAPK pathway gene set to identify chicken orthologs. These orthologs were then assessed and standardized gene nomenclature, as well as updated ortholog and Ensembl ID mappings. Functional annotations for these genes were assessed for overall functional annotation increases as well as annotation increases related to biological function. This work improved accessibility to existing data in order to allow researchers to more rapidly obtain gene functional data across species when studying RASopathies in chicken.