Figure 5 | Scientific Reports

Figure 5

From: Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function

Figure 5

Schematic model for C2CD3-deficient mouse and human cells.

(a) In normal conditions, the centrosome moves to the cell surface and the mother centriole with subdistal and distal appendage proteins docks to the membrane. Prior to docking CP110 is removed from the distal end of the mother centriole, a step essential for axonemal extension. (b) In C2CD3-deficient mouse cells, the mother centriole does not form distal appendages or anchor to the plasma membrane and shows defective removal of CP11020,23. (c) In C2CD3-deficient human G3P1 cells, the subdistal and distal appendage proteins are localised normally at the mother centriole and basal body, but CP110 is not efficiently removed, hence blocking axonemal extension and ciliogenesis.

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