fig4

Figure 4. Human genetic diseases associated with GDF11 mutations. (A) 7 mutation sites have been identified in the GDF11 gene associated with several defects such as cleft palate and skeletal abnormalities. Mutations 1 and 2 are located in the prodomain, Mutations 3 and 4 in the Furin cleavage site, and Mutations 5-7 in the mature domain of GDF11. (B) Summary table of GDF11 mutations identified in humans. (+) indicates defects; (-) indicates no defect. + Ribs suggest skeleton defects. (C) Schematic depicting the functional impact of mutation 3, located in the Furin cleavage site, highlighting the importance of Furin cleavage for GDF11 activity.