The ferlin protein family are group of membrane proteins composed of multiple C2 domains with emerging roles in calcium regulated membrane trafficking and vesicle fusion events. Ferlin mutations are associated with muscular dystrophy and deafness, as well as infertility in Caenorhabditis elegans and Drosophila. Ferlin genes appear early in eukaryotic evolution and members are found in all eukaryotic kingdoms. Despite their prevalence, several vertebrate ferlins remain completely uncharacterized.
We present results of studies conducted on Fer1L-6, one of the uncharacterized vertebrate ferlins, in zebrafish. Fer1L-6 expression occurred early in zebrafish development and peaked 48 hpf, with greatest expression levels in muscle and brain. Knockdown of Fer1L-6 expression resulted in defects in skeletal muscle patterning, as well as cardiac chamber development and heart valve formation. We conclude that Fer1L-6 plays a critical role in the development of skeletal muscle and the heart.