Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy
J. Clin. Invest. Joachim Schessl, et al. 118:904 doi:10.1172/JCI34450 [Go to this article.]

Figure 4
Transfection of mutant FHL1 H123Y and C132F in COS-7 cells. (A) COS-7 cells transfected with GFP-tagged mutant constructs developed dense juxtanuclear inclusions (arrow), which colabeled with FHL1 antibody. (B) Most COS-7 cells transfected with wild-type FHL1 and labeled for FHL1 generated a lattice-like network within the cells but without clear aggregates in the majority of cells. (C and D) Electron microscopy images of COS-7 cell transfected with wild-type FHL1 without formed inclusions (C) in contrast to an H123Y FHL1 mutant transfected cell with a dense juxtanuclear inclusion (arrow) (D) Stars indicate nuclei. (E) COS-7 cells cotransfected with mutant GFP-tagged construct and wild-type V5-tagged FHL1 constructs. Detection with V5 antibody (red) and GFP antibody (green) shows that both mutant and wild-type constructs aggregated in the same inclusions, indicating that mutant FHL1 traps wild-type FHL1 in the aggregates (arrows). Scale bars: 10 μm (A, B, and E); 2 μm (C and D).