ZFIN is incorporating published figure images and captions as part of an ongoing project. Figures from some publications have not yet been curated, or are not available for display because of copyright restrictions.

ZFIN is incorporating published figure images and captions as part of an ongoing project. Figures from some publications have not yet been curated, or are not available for display because of copyright restrictions.

Pedigree of UK Family SC32 in which a putative gene mutation has been found. (A) Open circles and squares indicate unaffected individuals. Blackened circles and squares indicate affected females and males respectively. The arrow indicates family proband (SC32.1) and NGS sequenced patients are indicate by asterisks (SC32.1, SC32.16). (B) Standing posterior radiographs of proband V:3 of family SC32, showing right thoracolumbar spinal curvature in the absence of congenital vertebral abnormality. Cobb angle measurement of 40° at time of diagnosis (left panel), Cobb angle measurement of 56° before corrective surgery (middle panel), and spinal fusion (right panel). (C) Sequence obtained by Sanger sequencing of gDNA from scoliotic patient revealing the insertion of TT inducing a framshift (DE0193 lower chromatogram), compare to normal sequence of non-scoliotic patient (DE0194 upper chromatogram). (D) Representation of Human TTLL11 isoform 1 and 2 with the TTL domain showing the p.Pro524PhefsTer4 mutation (upper panel, black arrow), and partial alignment of TTLL11 by MUSCLE⁹⁶ from different species to identify conserved domains (lower panel, black arrow represents the mutated proline).

WT and mutant TTLL11 mRNA expression after starvation. WT (DE0194) and mutant (DE0193) fibroblasts were treated with medium without FBS for different times. Cells were then processed for mRNA isolation and the relative mRNA expression of both transcript 1 (A) and 2 (B) of TTLL11 at different time point after serum starvation were determined by qPCR. The levels of mRNAs were plotted relative to cells harvested at 0 h (n = 3). Error bars represent SD. The difference between one independent group and the control group 0 h was examined by unpaired, two-tailed Student’s t-test, *P ≤ 0.05, **P ≤ 0.01, ***P ≤ 0.001.

Knockdown of ttll11 leads to scoliosis phenotype in zebrafish larvae. Ttll11 knock-down zebrafish showed body curvature phenotype compared to control. (A) Representation of the blocking antisense morpholino oligonucleotide targeting zebrafish ttll11 (NM_001077375.1). (B) Mutant and control zebrafish phenotype (3–5 dpf). (C) Incidence of body axial deformity after MOs injection into fertilised zebrafish eggs at the one- to two-cell stages.

Effect of ttll11-mut in zebrafish body axis and lethality. (A) Sequence obtain by Sanger sequencing of the mut-ttll11 zebrafish (left panel, lower chromatogram) compared to WT (left panel, upper chromatogram) and protein consequences (right panel). (B) Mut-ttll11 display different type of 3D curvature of the body axis in 8 days old mut-ttll11 zebrafish. (C) Incidence of scoliosis phenotype in 8 days old mut-ttll11 zebrafish. 6% of the mut-ttll11 zebrafish show a 3D curvature of the body axis. n = 250. (D) Lethality of scoliosis phenotype in 8 days old mut-ttll11 zebrafish. All the mut-ttll11 zebrafish expressing 3D curvature died after 2 weeks, 20% the first week and 80% the second week. All the WT and mut-ttll11 no curved were alive after 2 weeks. n = 15. (E) lateral view (left panels) of WT, mut-ttll11 and mut-ttll11 with scoliosis adult zebrafish. MicroCT lateral (middle panels) and dorsal (right panels) images reveal a 3D curvature for the mut-ttll11 with scoliosis fish compared to WT and mut-ttll11 without scoliosis phenotype.