Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency
Figure 3
Confocal microscopy analysis of apoptosis in COS-1 cells following 48 h induction of apoptosis with sodium butyrate. In cells transfected with wild type (WT, upper row) or p.Glu120Lys mutant (Mut, lower row) GFP-tagged NANOS3, expression of green NANOS3-GFP is seen predominantly in the nucleus. Red Annexin-V staining in the cytoplasm and plasma membrane, indicating apoptosis, is seen in cells expressing p.Glu120Lys mutant NANOS3 but not in those expressing WT NANOS3.
