Skip to main content
. 2020 Jan 29;29(5):845–858. doi: 10.1093/hmg/ddaa002

Figure 7.

Figure 7

SPECC1L variants from non-syndromic patients result in reduced association with acetylated microtubules. (A–C) Representative images of U2OS cells transfected with WT (A and B) and Q415P (C) SPECC1L in U2OS cells. SPECC1L (green) was visualized by immunofluorescence and counterstained with DAPI (blue). (D) Transfected cells were scored for elaborate (A) or incomplete/abnormal microtubule patterning (B and C). The four variants identified in syndromic patients showed no changes, while the Q415P syndromic mutation resulted in a markedly reduced proportion of elaborate patterning. (E–G) Transfected cells were co-stained with SPECC1L (green) and acetylated-α-tubulin (red) and binned into high (E), moderate (F), or low (G) groups based on the extent of SPECC1L-associated acetylated tubulin staining. (H) Compared to wild-type, cells transfected with the A86T- and R546Q-SPECC1L constructs exhibited a significantly increased proportion of cells in the low group, and a significantly decreased proportion in the high (A86T, R546Q) and moderate (A86T) correlation groups. Scale bars are 20 μm.