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Figure 6 | Orphanet Journal of Rare Diseases

Figure 6

From: Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation

Figure 6

Spindle defects in CDK5RAP2 mutant patients cells. Subcellular localization of CDK5RAP2 and α-tubulin throughout the cell cycle in immortalized lymphocytes of (A) control and (B) MCPH3 patient 2. In controls, CDK5RAP2 is weak and centrosomal during interphase and shows abnormal spindle formation. In patients, spindle pole formation did not appear to be as precise as in the control cells, with the chromosomes not as uniformly positioned at the spindle poles. Cells were stained with CDK5RAP2 (red), α-tubulin (green) as a centrosomal marker, and DNA is stained with DAPI (blue). Scale bars 10 μm. (C) Quantification results of abnormal spindles (unfocused α-tubulin staining at spindle poles), multipolar spindles and spindle pole distance.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172