Knockout of zebrafish desmin genes does not cause skeletal muscle degeneration but alters calcium flux [article]

Gulsum Kayman Kurekci, Ecem Kural Mangit, Cansu Koyunlar, Seyda Unsal, Berk Saglam, Bora Ergin, Ismail Uyanik, Niloufar Duz, Beril Talim, Nuhan Purali, Simon M Hughes, Pervin R Dincer
2020 bioRxiv   pre-print
Desmin is a muscle-specific intermediate filament protein that has fundamental role in muscle structure and force transmission. Whereas human desmin protein is encoded by a single gene, two desmin paralogs (desma and desmb) exist in zebrafish. Desma and desmb show differential spatiotemporal expression during zebrafish embryonic and larval development, being similarly expressed in skeletal muscle until hatching, after which expression of desmb shifts to gut smooth muscle. We generated knockout
more » ... KO) mutant lines carrying loss-of-function mutations for each gene by using CRISPR/Cas9. Desma;desmb double mutants are viable and fertile, and lack obvious skeletal muscle, heart or intestinal defects. In contrast to morphants, knockout of each gene did not cause any overt muscular phenotype, but did alter calcium flux in myofibres. These results point to a possible compensation mechanism in these mutant lines generated by targeting nonsense mutations to the first coding exon.
doi:10.1101/2020.10.16.342485 fatcat:r4ikmrucyrew7kg43otsl3puqu