Disease relevance of PAX2

• Loss-of-function experiments suggest that the Pax2 gene plays a key role in the development of the cochlear duct and acoustic ganglion [1].

High impact information on PAX2

• In transient ectopic expression experiments in the chick embryo, Odd1 can promote expression of the mesonephric precursor markers Pax2 and Lim1 [2].
• Several regional markers of the inner ear, such as Pax2, EphA4, SOHo1 and Wnt3a, are incorrectly expressed in VAD otocysts, and the sensory patches and vestibulo-acoustic ganglia are either greatly reduced or absent [3].
• In addition, Shh signals differentially influenced expression patterns of genes involved in ocular tissue specification (Pax6, Pax2, and Otx2) and dorsal--ventral patterning (cVax) within the ventral but not dorsal optic cup [4].
• We conclude that the anterior mesencephalon and the diencephalon are able to retain or activate Pax2 expression under caudal influences, and to develop as a tectal structure at later developmental stages [5].
• In this study, by implanting Fgf8-beads in the chick neural tube, we show that Fgf8 induces a heterogeneous pattern of Pax2 expression in the diencephalon [5].

Biological context of PAX2

• A distinct preisthmic histogenetic domain is defined by overlap of Otx2 and Pax2 gene expression in the avian caudal midbrain [6].
• To explore the mechanisms controlling this asymmetric induction and the down-regulation of Pax2 in the anterior mesencephalon we performed antero-posterior inversions of diencephalic and/or mesencephalic neuroepithelium, with or without Fgf8-bead implantation [5].

Anatomical context of PAX2

• Pax2 expression patterns in the developing chick inner ear [1].
• Despite all these data, the role of Pax2 gene in the specification of the otic epithelium is still only poorly defined [1].
• The torus semicircularis-the inferior colliculus homolog-expressed Otx2 in its ventricular lining exclusively, but it never expressed Pax2 [6].
• Furthermore, the normally restricted expression of two genes (En1 and Pax2) in the mid/hindbrain junction region are expanded, reflecting the morphological defects [7].

References