PT  - JOURNAL ARTICLE
AU  - Gulsum Kayman Kurekci
AU  - Ecem Kural Mangit
AU  - Cansu Koyunlar
AU  - Seyda Unsal
AU  - Berk Saglam
AU  - Bora Ergin
AU  - Ismail Uyanik
AU  - Niloufar Düz
AU  - Beril Talim
AU  - Nuhan Purali
AU  - Simon M. Hughes
AU  - Pervin R. Dincer
TI  - Knockout of zebrafish desmin genes does not cause skeletal muscle degeneration but alters calcium flux
AID  - 10.1101/2020.10.16.342485
DP  - 2020 Jan 01
TA  - bioRxiv
PG  - 2020.10.16.342485
4099  - http://biorxiv.org/content/early/2020/10/17/2020.10.16.342485.short
4100  - http://biorxiv.org/content/early/2020/10/17/2020.10.16.342485.full
AB  - 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 (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.Competing Interest StatementThe authors have declared no competing interest.