Members of the mammalian PAX (paired box) family of genes
were initially identified due to sequence homology to the Drosophila segmentation
genes paired and gooseberry (Burri
et al, 1989).
PAX2 mutations are associated with kidney and retinal
defects in both mouse Krd and human (optic nerve coloboma with renal disease).
PAX family by Amy
Voltz
Expression Patterns:
Pax-2 is expressed prior to somite formation in the presumptive
mid/hindbrain region. Shortly thereafter, Wnt-1 (the wingless orthologue)
and Engrailed-1 are expressed in overlapping regions within the Pax-2 domain.
Thus, the spatial and temporal expression of Pax-2 is consistent with a
possible regulatory role in the activation of Wnt-1 and En-1. (Rowitch
D. H., 1995)
Expression patterns:
En-1,
En-2, Pax-2 and Wnt-7a in developing murine cerebellum.
Regulatory Regions:
Mutations and Knockouts:
Pax2 mutations are associated with kidney and retinal defects
in both mouse Krd and human (optic nerve coloboma with renal disease) (See
PAX family DB).
Bibliography:
Plaza, 1994
Pax-QNR/Pax-6, a paired- and homeobox-containing protein, recognizes Ets
binding sites and can alter the transactivating properties of Ets transcription
factors.
Gene Expr 4, 43-52 (1994) [95143936]
Plaza, 1995
C-Myb acts as transcriptional activator of the quail PAX6 (PAX-QNR) promoter
through two different mechanisms.
Oncogene 10, 329-340 (1995) [95140422]
Plaza, 1995
Identification and characterization of a neuroretina-specific enhancer
element in the quail Pax-6 (Pax-QNR) gene.
Mol Cell Biol 15, 892-903 (1995) [95124347]
Two
Pax-binding sites are required for early embryonic brain expression of
an Engrailed-2 transgene. Development 122: 627-635 (1996)
Pax-2
expression in the murine neural plate precedes and encompasses the expression
domains of Wnt-1 and En-1. Mech Dev 52: 3-8 (1995)
En-1,
En-2, Pax-2 and Wnt-7a in developing murine cerebellum.
Vert-Net
HOX-pro DB