PUBLICATION

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

Authors
Kayman Kürekçi, G., Kural Mangit, E., Koyunlar, C., Unsal, S., Saglam, B., Ergin, B., Gizer, M., Uyanik, I., Boustanabadimaralan Düz, N., Korkusuz, P., Talim, B., Purali, N., Hughes, S.M., Dincer, P.R.
ID
ZDB-PUB-210407-73
Date
2021
Source
Scientific Reports   11: 7505 (Journal)
Registered Authors
Hughes, Simon M.
Keywords
none
MeSH Terms
  • Animals
  • Base Sequence
  • Calcium/metabolism*
  • Desmin/genetics*
  • Desmin/metabolism
  • Embryo, Nonmammalian/metabolism
  • Gene Expression Profiling
  • Gene Expression Regulation, Developmental
  • Gene Knockout Techniques*
  • Larva/genetics
  • Muscle Fibers, Skeletal/pathology
  • Muscle, Skeletal/metabolism*
  • Muscle, Skeletal/pathology*
  • Muscle, Skeletal/ultrastructure
  • Mutation/genetics
  • Neuromuscular Junction/pathology
  • RNA, Messenger/genetics
  • RNA, Messenger/metabolism
  • Zebrafish/embryology
  • Zebrafish/genetics*
PubMed
33820917 Full text @ Sci. Rep.
Abstract
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. 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.
Genes / Markers
Figures
Figure Gallery
Expression
Phenotype
Mutation and Transgenics
Human Disease / Model Data
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping
Errata and Notes