title: Genetic and biochemical diversity in the Pax gene family.
abstract: The mammalian Pax gene family comprises nine members that are characterized by a conserved DNA-binding motif, the paired domain, which was originally described in the Drosophila protein paired. Both loss- and gain-of-function studies reveal that Pax genes carry out essential roles during embryogenesis, and in some instances, may function as master regulatory genes. This review focuses on both genetic and biochemical aspects of the Pax family, and emphasizes important differences in the activity of individual Pax genes and their protein products.
authors: Department of Medical Genetics, University of Alberta, Edmonton, Canada. alan.underhill@ualberta.ca
authors: D A
authors: DA
authors: Underhill
mesh_terms: D020816:Amino Acid Motifs; D000818:Animals; D001665:Binding Sites; D002471:Cell Transformation, Neoplastic / Q000235:genetics; D004247:DNA / Q000235:genetics / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D004331:Drosophila melanogaster / Q000196:embryology / Q000235:genetics; D004475:Ectoderm / Q000166:cytology; D005314:Embryonic and Fetal Development / Q000235:genetics; D019143:Evolution, Molecular; D005136:Eye Proteins; D018628:Gene Dosage; D018507:Gene Expression Regulation, Developmental; D014644:Genetic Variation; D018398:Homeodomain Proteins / Q000235:genetics / Q000502:physiology; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D008954:Models, Biological; D009024:Morphogenesis / Q000235:genetics; D005810:Multigene Family; D009419:Nerve Tissue Proteins / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D009420:Nervous System / Q000196:embryology; D000072041:PAX3 Transcription Factor; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D010641:Phenotype; D017434:Protein Structure, Tertiary; D012097:Repressor Proteins; D014157:Transcription Factors / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D014158:Transcription, Genetic; D014714:Vertebrates / Q000196:embryology / Q000235:genetics; D014849:Waardenburg Syndrome / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D005136:Eye Proteins; D018398:Homeodomain Proteins; D009419:Nerve Tissue Proteins; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; C000605732:Pax6 protein, mouse; D012097:Repressor Proteins; D014157:Transcription Factors; C068686:Pax3 protein, mouse; D004247:DNA