Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans
J. Clin. Invest. Daniel Kelberman, et al. 116:2442 doi:10.1172/JCI28658 [Go to this article.]

Figure 4
Mutation analysis of SOX2. (A) Schematic diagram of the single exon of SOX2 showing the position of the HMG domain and transactivation domain. The position of sequence changes identified in the cohort reported here are shown with their relative positions within the gene; frameshift and nonsense mutations are shown in black, nonsynonymous changes in blue, and synonymous variants and a single nucleotide polymorphism in the 3′ untranslated region in gray. (B) Electropherograms of the frameshift, nonsense, and nonsynonymous coding variants with the position of each mutation marked by an arrow, demonstrating that each mutation is heterozygous. Also shown is a sequence trace from a cloned PCR product from patient 2 with the c.70del20 mutation showing the extent of the deletion by alignment with wild-type SOX2 sequence. Note patient 7 with the G130A variant had an additional heterozygous synonymous sequence change 2 bp upstream (c.387C→G). “N” denotes heterozygous peaks in the electropherogram. (C) Alignment of predicted SOX2 mutant proteins with part of the wild-type SOX2 protein sequence showing the extent of the truncations. The mutations c.60insG and c.70del20 were predicted to produce proteins that completely remove the HMG box (underlined). Amino acids shown in blue result from frameshifts and do not align to the wild-type SOX2 sequence. Asterisk indicates the position of L97.