Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency
Figure 1
A Mutational analysis of NANOS3 revealed a homozygous c.358G>A substitution in exon 1 in two sisters with primary amenorrhea. The GAG to AAG change in codon 120 results in a substitution from glutamic acid to lysine in the codified protein (p.Glu120Lys). B, Cartoon representation of the NANOS3 protein (192 amino acids), with the zinc finger domain (amino acid 76 to 130) depicted in yellow, showing the location of the p.Glu120Lys mutation. Glutamic acid 120 (shown as E120) is localized within one of two highly conserved Cys-Cys-His-Cys (C2HC) motifs (shaded red and yellow boxes). Conservation among species of the second C2HC motif sequence (human residues 112 to 128) is shown in detail; glutamic acid 120 (E) is highly conserved. Alignment was performed in Clustal Omega using protein sequences obtained from UniProt.
