Pax genes
Family of transcription factors
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The paired domain was initially described in 1987 as the "paired box" in the Drosophila protein paired (prd; P06601).
Groups
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.
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- 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 1,323bps in humans. In the mouse Pax1 mutation has been linked to undulated mutant suffering from skeletal malformations.
- PAX2 has been identified with kidney and optic nerve development. It transcribes a 417 amino acid protein from 11 exons and 4,261 bps 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 bps in humans. Knockout mice lacking Pax4 expression fail to develop insulin-producing cells. Pax4 undergoes mutual reciprocal interaction with the transcription factor Arx to endow pancreatic endocrine cells with insulin and glucagon cells respectively
- PAX5 has been identified with neural and spermatogenesis development and b-cell differentiation. It transcribes a 391 amino acid protein from 10 exons and 3,644bps in humans.
- PAX6 (eyeless) is the most researched and appears throughout the literature as a "master control" gene for the development of eyes and sensory organs, certain neural and epidermal tissues as well as other homologous structures, usually derived from ectodermal tissues.
- PAX7 has been possibly associated with myogenesis. It transcribes a protein of 520 amino acids from 8 exons and 2,260bps in humans. PAX7 directs postnatal renewal and propagation of myogenic satellite cells but not for the specification.
- PAX8 has been associated with thyroid specific expression. It transcribes a protein of 451 amino acids from 11 exons and 2,526bps in humans. Pax8 loss-of-function mutant mice lack follicular cells of the thyroid gland.
- PAX9 has found to be associated with a number of organ and other skeletal developments, particularly teeth. It transcribes a protein of 341 amino acids from 4 exons and 1,644bps in humans.
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