Human osteoblasts carrying <i>POC5</i>^<i>A429V</i> show short cilia.

Representative immunodetection of POC5 and acetylated-α-tubulin by immunofluorescence in osteoblasts from normal (non scoliotic) (a, b, c, d) and cells with the POC5A429V (e, f, g, h). Merged images (d and h) show differential colocalization of POC5 with respect to cilia. Zoomed image shows that POC5 is located at the cilium level marked by acetylated-α-tubulin. Human osteoblasts carrying the variant POC5A429V (e, f, g, h), show decreased staining intensity and absence or retraction of cilium (h). POC5A429V protein was seen to be localized within the nucleus (zoomed image). POC5 (green coloration), acetylated-α-tubulin (red coloration) and the nucleus were stained with DAPI (blue). Images were taken using the Zeiss microscopy. Mag x 40. Scale bar 1.6 μm. (I) The graphs represent the percentage of cilia for each length category in NOB and AIS cells (POC5A429V). Each bar represents the mean of three independent experiments (±SD). PPOC5A429V mutation.