CCDC57

Cilia effects upon perturbation of CCDC57

Cilia number / % ciliated:

No Effect

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.20) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

decreased mean corpuscular hemoglobin, decreased hemoglobin content, decreased mean corpuscular volume, decreased body weight, decreased circulating potassium level, decreased hematocrit

Mouse ciliopathy phenotype:

abnormal cranium morphology

Ciliopathy associations

• Visceral Heterotaxy / Situs Inversus

Subcellular localization

basal body

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation

Function

Ccdc57 localizes on BBs as a rotationally-asymmetric punctum, which polarizes away from the BF in BBs having achieved the rotational polarity to probably fix the BF-AO relationship. To explore the ciliary role of Ccdc57, ciliogenesis in BV was examined by immunofluorescence. The cilia in BV were much shorter than cilia in the spinal canal at 48 hpf, but no obvious differences in lengths and morphology were found between WT and MZccdc57 mutant embryos. Ccdc57 is not required for ciliogenesis (PMID: 36669737). CCDC57 depletion via morpholino in Xenopus leads to abnormal cilia in multiciliated cells and defects in left-right patterning. Human patient with situs inversus identified.

Model organism evidence