Fig. 2
- ID
- ZDB-FIG-250116-9
- Publication
- Li et al., 2024 - Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease
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Functional assays in inducible Flp-In TRex 293 cells with TOM7 variant. (a) Predicted structure of transmembrane domain of TOM7 by I-TASSER43 with full-length TOM7 (amino acids 1∼55) and annotated with PyMol. Angles of the kinks were determined by α-carbon of residue Glu7, Trp25, and Gly39 with PyMol. (b) Zoom-in view of the Pro29 residue (yellow) in the α-helix of wild-type TOM7. Red dotted lines represent the predicted hydrogen bonds. Zoom-in view of the Leu29 residue (orange) in the α-helix of TOM7 variant. Red dotted lines represent the predicted hydrogen bonds. (c) Immunoblotting of TOM7 with anti-myc antibody in whole-cell lysate or mitochondria-enriched lysate from Flp-In TRex293 cells expressing myc-tagged WT TOM7 or TOM7P29L. (d) Representative z-stack confocal images and line profile of immunofluorescent staining with anti-myc antibody (green; staining TOM7), anti-TOM40 antibody (Red; staining mitochondria) and DAPI (blue) in Flp-In TRex 293 cells carrying myc-tagged wild-type TOM7 or TOM7P29L. Zoom-in views were taken from a single z-plane. Tringle indicates non-mitochondrial TOM7P29L staining. (e) Representative z-stack confocal images and line profile of immunofluorescent staining with anti-myc antibody (green; staining TOM7), anti-Calnexin antibody (Red; staining ER) and DAPI (blue) in Flp-In TRex 293 cells carrying WT TOM7 or TOM7P29L. Zoom-in views were taken from a single z-plane. Triangles indicate co-localized ER and TOM7P29L staining. (f) Immunoprecipitation of TOM7 with anti-myc antibody pulled down the members of TOM complex, TOM22 and TOM40, in Flp-In TRex 293 cells expressing myc-tagged WT TOM7 or TOM7P29L. WT, wild-type TOM7; PL, TOM7p.P29L. |