Elucidating the Function of an Evolutionarily Conserved Embryonic Splice Variant of Type II Collagen During Vertebrate Development

Abstract

This study investigates the role of exon 2 in the zebrafish col2a1a gene, a paralog of the human COL2A1 gene essential for connective tissue and skeletal development. Exon 2 encodes the von Willebrand Factor Type C (VWF-C) domain, which binds TGF-β ligands involved in embryonic dorsoventral patterning. Using CRISPR-Cas9, we aim to delete exon 2 and prevent expression of the embryonic splice variant (v1), forcing premature use of the post-embryonic variant (v2). We hypothesize that loss of the VWF-C domain will disrupt TGF-β signaling, leading to defects in embryonic development and vertebral formation