"Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis" is now published in Communications Biology! This study led by C4CI postdoc Caroline Caetano da Silva functionally tested the pathogenicity of human ESRP1/2 gene variants in zebrafish and murine cells, showing that many variants predicted to be pathogenic in silico were functionally benign. Furthermore, this study showed that Esrp1 is co-expressed with Ctnnd1 in the embryonic and oral epithelium, as well as identified 13 CTNND1 variants from genome sequencing of orofacial cleft cohorts. Overall, this study highlights the critical need for functional assessment of human gene variants and the important role of Esrp-Ctnnd1 in regulating palatogenesis in the embryonic epithelium.
Congratulations to the team!
