Extended Data Fig. 1: Structural and functional analysis of AIRIM variants.
From: A programmed decline in ribosome levels governs human early neurodevelopment
a Close-up views and structural details of AIRIM residues mutated in neurodevelopmental syndromes. Wild-type and mutant AIRIM variants predicted by AlphaFold 3 are shown in cartoon representation, and coloured light green or grey respectively. Mutated residues are shown as ball & sticks; N- and C-termini are indicated. AFG2A, AFG2B and CINP subunits have been removed for clarity. b. Top view of the 55LCC structure (PDBid: 8RHN), showing the arrangement of the 55LCC “Lid” unit. Cartoon models of the AIRIM–CINP heterodimer, and of the N-termini of AFG2A and AFG2B are coloured in light green, blue, purple and light orange respectively. Missing loops within each CINP protomer or unstructured regions in the AFG2A N-termini are indicated with dashed lines; superscript numbers refer to the AFG2A and AFG2B subunits. Dashed black rectangles highlight regions where AIRIM mutants and interacting residues are located (left). Close-up views and structural details of AIRIM residues mutated in neurodevelopmental syndromes. Disease-related and interacting residues are labelled in bold and roman respectively and shown as ball & sticks (right) NTD = N-terminal domain. c. Western blot of FLAG-immunoprecipitation (IP) and input samples from HEK293T transiently expressing FLAG–HA-AIRIM variants, empty vector (EV), or wild-type (WT). n = 3 biological replicates.
