Fig. 1

Pathogenic variants in TUBG1 alter neuronal positioning. a Linear representation of TUBG1 polypeptide. Black arrows indicate relative position of the four investigated mutations. b Coronal sections of E18.5 brains electroporated at E14.5 with either a control-empty vector, the WT form or one of the four TUBG1 mutated forms and co-electroporated with a GFP-encoding reporter (green), stained with DAPI (blue) Scale bar 50 µm. c Percentage of fluorescent cells in three different regions: CP, IZ, VZ/SVZ. Data from at least three embryos per condition were analyzed with Two-way ANOVA with Tukey’s multiple comparisons test, ****p < 0.0001, compared to control-empty vector or TUBG1 wild type overexpression. d Coronal sections of E18.5 brains electroporated at E14.5 with the Tyr92Cys variant and stained for the upper-layer marker Cux1 (cyan), deep layers markers CTIP2 (magenta), TBR1 (gray) and DAPI (blue). Scale bar 50 µm. e Coronal sections of P8 brains electroporated at E14.5 with either a control-empty vector or one of the four mutant TUBG1 forms. Sections were stained for the upper-layer marker SATB2 (cyan), lower layer marker TBR1 (yellow) and with DAPI (blue). White arrows show ectopic SATB2⁺ cells in the white matter (WM). Scale bar 250 µm. CP, cortical plate; IZ, intermediate zone; VZ/SVZ, ventricular zone/subventricular zone. Data are represented as mean ± s.e.m. Source data are provided in the Source Data file