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Concept
Pax genes
Summary
In evolutionary developmental biology, Paired box (Pax) genes are a family of genes coding for tissue specific transcription factors containing an N-terminal paired domain and usually a partial, or in the case of four family members (PAX3, PAX4, PAX6 and PAX7), a complete homeodomain to the C-terminus. An octapeptide as well as a Pro-Ser-Thr-rich C terminus may also be present. Pax proteins are important in early animal development for the specification of specific tissues, as well as during epimorphic limb regeneration in animals capable of such.
The paired domain was initially described in 1987 as the "paired box" in the Drosophila protein paired (prd; ).
Within the mammalian family, there are four well defined groups of Pax genes.
Pax group 1 (Pax 1 and 9),
Pax group 2 (Pax 2, 5 and 8),
Pax group 3 (Pax 3 and 7) and
Pax group 4 (Pax 4 and 6).
Two more families, Pox-neuro and Pax-α/β, exist in basal bilaterian species. Orthologous genes exist throughout the Metazoa, including extensive study of the ectopic expression in Drosophila using murine Pax6. The two rounds of whole-genome duplications in vertebrate evolution is responsible for the creation of as many as 4 paralogs for each Pax protein.
PAX1 has been identified in mice with the development of vertebrate and embryo segmentation, and some evidence this is also true in humans. It transcribes a 440 amino acid protein from 4 exons and 1,323 in humans.
PAX2 has been identified with kidney and optic nerve development. It transcribes a 417 amino acid protein from 11 exons and 4,261 in humans. Mutation of PAX2 in humans has been associated with renal-coloboma syndrome as well as oligomeganephronia.
PAX3 has been identified with ear, eye and facial development. It transcribes a 479 amino acid protein in humans. Mutations in it can cause Waardenburg syndrome. PAX3 is frequently expressed in melanomas and contributes to tumor cell survival.
PAX4 has been identified with pancreatic islet beta cells. It transcribes a 350 amino acid protein from 9 exons and 2,010 in humans.
Official source
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