Figure 3.
Structure of the Satb2 tetramerisation domain and upper incisors in the patient with intragenic SATB2 duplication. (A) The four subunits of the tetramer are shown in different colours and those parts, which are duplicated in the mutant, are shown in space-filled presentation. This duplication will affect the interfaces between the dimers that form the tetramer (black arrows). Thus, the intragenic duplication is expected to hamper formation of the tetramer, which was suggested to play an important role for long-range chromatin organisation and coordination in gene regulation.12 (B) Double row of upper incisors in the patient with 32 kb pathogenic duplication within SATB2 at age 3 3/12 years.