Figure 3.
MAGEL2 WT and p.Gln666Profs∗47 interact with proteins involved in RNA metabolism and gene expression as well as disease related SMN (spinal muscular atrophy) and FMRP (fragile-X syndrome)
(A) Venn diagrams of protein interaction partners for MAGEL2 WT and p.Gln666Profs∗47 identified by BioID or GFP-CoIP.
(B) Gene enrichment analysis for Biological Processes (2023) in either BioID or GFP-CoIP employing enrichR. Shades of blue depict top 5 hits by combined score.60 Gray circles indicate that the respective GO term is among the top hits in another condition. GO terms with an adjusted p value > 0.05 were excluded.
(C) Heatmap for enriched proteins (gene names are depicted) in MAGEL2 WT and p.Gln666Profs∗47 by BioID and GFP-CoIP. GO term enrichment analyses for Biological Process and KEGG Pathways from Figure S1 were grouped to broader functional terms as shown in Table S9 are written in the respective colors (Gene Ontology). Gene ontology “others” include novel interaction partners of interest which could not be assigned to the remaining annotated terms.
(D) Western blots of proteins which co-immunoprecipitated with WT GFP-MAGEL2 or GFP-p.Gln666Profs∗47 (n = 3). 5% of the lysate were used in input fractions.