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Figure 4 | Orphanet Journal of Rare Diseases

Figure 4

From: Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation

Figure 4

WDR62 in immortalized lymphocytes and dispersion of centrosomal proteins γ-tubulin and CDK5RAP2 in WDR62 mutant patients cells. Subcellular localization of WDR62 (red) and γ-tubulin (green) throughout the cell cycle in immortalized lymphocytes of (A) controls and (B) the MCPH2 patient. In controls, WDR62 colocalized with γ-tubulin and was present on the centrosome with high levels throughout mitosis until anaphase and telophase, thereafter the signal intensity dropped to interphase levels. Gamma-tubulin immunostaining shows distinct centrosomes in controls whereas in patient cells the γ-tubulin-marked centrosomes appear broad and dispersed. (C) Quantification results of abnormal centrosomes with a dispersed γ-tubulin staining around the centrosome (n = 100 metaphase lymphoblastoid cells, p = 0.0006, Student’s t-test). (D) Abnormal localization of centrosomal protein CDK5RAP2 (red) in WDR62 mutant patient immortalized lymphocytes (see also Figure 5). Cells were stained for WDR62, for the centrosome marker CDK5RAP2, and for α-tubulin as a microtubuli marker. DNA was stained with DAPI (blue).

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