Utilizing CRISPR-Cas13d-knockdown in zebrafish to study a rare monogenic bone fragility syndrome.

ABSTRACT: Pathogenic variants in the human SGMS2 gene coding for SMS2 protein result in a rare form of primary osteoporosis, "Calvarial doughnut lesions with bone fragility" (CDL). To obtain a better understanding of the SGMS2 gene's function and the molecular mechanisms underlying CDL, we studied mRNA expression of the zebrafish orthologs for SGMS2, sgms2a and sgms2b, in WT zebrafish and developed zebrafish models using the novel CRISPR-Cas13d-knockdown. The sgms2a, sgms2b, and sgms2a+b knockdown zebrafish were analyzed by embryo phenotype at 2 d post-fertilization and cartilage and bone staining at 7 d post-fertilization. In situ hybridization studies of embryonic and early larval WT zebrafish demonstrated sgms2a expression in the brai

SUBMITTER: Maatta K 

PROVIDER: S-EPMC12548727 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature