Fig. 5: Functional consequences of EIF6 variants.
From: Convergent somatic evolution commences in utero in a germline ribosomopathy
a Atomic model of human eIF6 bound to the 60S ribosomal subunit (PDBID: 7OW7). CP central protuberance. Stabilising interactions formed by eIF6 residues N106 (b), I58 (c) and R96 (d) are predicted to be lost with somatic mutation. Figures were generated using Pymol v1.2. eL24 is coloured salmon; uL14, gold; eIF6, green. e Cell extracts from HEK293T cells expressing empty vector, human eIF6-WT-FLAG or eIF6-M1T-FLAG mutant for 24 h were immunoblotted to detect eIF6, FLAG and actin as loading control. f, g Overexpression of eIF6 variants in WT flies. Genotypes of fly samples are indicated in Supplementary Table 2. f Extracts from larvae with the stated genotypes were immunoblotted to detect the indicated proteins (minimum 3 replicates). Control, da-GAL4 line. g Proportion of indicated fly genotypes that eclosed (minimum 5 replicates, minimum n = 216; error bars represent mean ± SD). h Genetic complementation of Sbds-deficient Drosophila (Sbds P/P) with SDS-related eIF6 variants. Proportion of indicated genotypes developing to the pupal stage is shown (minimum 5 replicates, minimum n = 256; error bars represent mean ± SD; ***two tailed t-test, p(1) = 0.00060711; p(2) = 2.56426E−07; p(3) = 2.3141E−13. Source data are provided as a Source Data file.
