Figures & data
Figure 1 Pax2 mutation spectrum (NM_003987.5) and the structure of protein in human. (A) Pax2 mutation spectrum. Mutations identified in patients with neurodevelopment disorders are indicated with red characters, most common mutation identified in patients with renal and eye abnormalities is in blue. (B) PAX2 protein contains a DNA binding domain of 128 amino acids (paired domain, PD, yellow) at the amino-terminal and a transactivation domain (TD, Orange) at the carboxyl-terminal, and a conserved octapeptide (OP, purple) motif and a homeodomain (HD, brown). The exons 1–4 encode the PD, exon 5 encodes the OP, and exons 8–11 encode the TD of the PAX2 protein.
Table 1 List of Pax2 Variants in Neurodevelopmental Disorders
Figure 2 A possible mechanism by which Pax2 mutations leads to neurodevelopmental disorders. On the one hand, Pax2 gene mutations affect the normal formation of the midbrain and hindbrain boundary leading to neurodevelopmental disorders, such as autism spectrum disorders. On the other hand, Pax2 gene disrupts the excitation-inhibitory (E-I) balance in the brain leading to neurodevelopmental disorders by regulating the cell fate of GABAergic interneurons.
Figure 3 PAX2-associated transcriptional networks and PAX2-binding proteins. As a gene encoded transcription factor, PAX2 is not only regulated by upstream transcription factors, but also can activate or inhibit the expression of downstream genes. +: activate; -: inhibit.
