Fig. 2.

Schema of OTX2 genomic organization and protein structure. Reported OTX2 gene mutations associated with human pituitary abnormalities or pituitary hormone deficiency are shown. Missense and frameshift mutations are indicated by black dots. The two missense mutations enclosed in boxes show the dominant negative effect on wild-type OTX2. Numbers next to the protein indicate amino acid positions of domain boundaries. NRS, nuclear retention signal; OTX, OTX family domain; white boxes, exon; HD, homeodomain. The closed triangles represent two tandem repeat conserved transactivation motifs.