Pax genes and organogenesis.
Pax genes are a family of developmental control genes that encode nuclear transcription factors. They are characterized by the presence of the paired domain, a conserved amino acid motif with DNA-binding activity. Originally, paired-box-containing genes were detected in Drosophila melanogaster, where they exert multiple functions during embryogenesis. In vertebrates, Pax genes are also involved in embryogenesis. Mutations in four out of nine characterized Pax genes have been associated with either congenital human diseases such as Waardenburg syndrome (PAX3), Aniridia (PAX6), Peter's anomaly (PAX6), renal coloboma syndrome (PAX2) or spontaneous mouse mutants (undulated (Pax1), Splotch (Pax3), Small eye (Pax6), Pax2(1)Neu), which all show defects in development. Recently, analysis of spontaneous and transgenic mouse mutants has revealed that vertebrate pax genes are key regulators during organogenesis of kidney, eye, ear, nose, limb muscles, vertebral column and brain. Like their Drosophila counterparts, vertebrate Pax genes are involved in pattern formation during embryogenesis, possibly by determining the time and place of organ initiation or morphogenesis. For most tissues, however, the nature of the primary developmental action of Pax transcription factors remains to be elucidated. One predominant theme is signal transduction during tissue interactions, which may lead to a position-specific regulation of cell proliferation.
Dahl
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GSF-National Research Center for Environment and Health, Institute for Mammalian Genetics, Neuherberg, Germany.
Koseki
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Balling
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D000818:Animals; D004268:DNA-Binding Proteins / Q000235:genetics*; D004331:Drosophila melanogaster; D005314:Embryonic and Fetal Development / Q000235:genetics*; D005136:Eye Proteins; D018398:Homeodomain Proteins; D006801:Humans; D051379:Mice; D051762:PAX2 Transcription Factor; D000072041:PAX3 Transcription Factor; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; D005136:Eye Proteins; D018398:Homeodomain Proteins; D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; C497319:Pax2 protein, mouse; C000605732:Pax6 protein, mouse; D012097:Repressor Proteins; D014157:Transcription Factors; C068686:Pax3 protein, mouse