Fig. 2: Genetic mechanism of biallelic pathogenic THOC6 variants. | Nature Communications

Fig. 2: Genetic mechanism of biallelic pathogenic THOC6 variants.

From: TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

Fig. 2

A Schematic of TREX core tetrameric assembly mediated by THOC6 with functional implications for mRNA processing and export based on the published crystal TREX structure25. B Amino acid alignment showing conservation of affected residues (blue font) for pathogenic variants in present clinical study. Variants mapped to C THOC6 folded β-propeller structure and D THO/TREX complex. Missense variant residues are represented with purple cartoon spheres; nonsense variant residues are represented with green cartoon spheres. E Steady-state protein abundance for THO/TREX complex members. This experiment was independently repeated four times with similar results. F THOC6 and ALYREF abundance following co-immunoprecipitation with THOC5 for unaffected control, unaffected missense heterozygous, and affected missense homozygous iPSCs. This experiment was independently repeated three times with similar results. Source data are provided as a Source Data file.

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