title: Transcription factors regulating pituitary development.
abstract: This review will address contributions of nuclear transcription factors to the embryologic development and definitive function of the anterior pituitary gland. The HESX1, PITX1, PITX2, PROP1 and POU1F1 genes are of particular interest because of their recognized or potential associations with human disease. Mutations of any of the first three genes produce complex disease phenotypes such as septo-optic dysplasia, Treacher Collins Franceschetti syndrome or Rieger syndrome that may include deficiency of one or more pituitary hormones. Mutations in PROP1 or POU1F1, or their mouse homologous, result in severe hypopituitarism as well as morphological abnormalities of the pituitary gland.
authors.affiliation: Division of Pediatric Endocrinology and Diabetes, Emory University School of Medicine, Atlanta, GA 30322, USA. jparks@emory.edu
authors.forename: J S
authors.initials: JS
authors.lastname: Parks
authors.forename: M R
authors.initials: MR
authors.lastname: Brown
mesh_terms: D000818:Animals; D051792:Basic Helix-Loop-Helix Proteins; D004195:Disease Models, Animal; D005801:Genes, Homeobox; D018398:Homeodomain Proteins / Q000235:genetics / Q000502:physiology; D006801:Humans; D007018:Hypopituitarism / Q000196:embryology / Q000235:genetics / Q000503:physiopathology; D051379:Mice; D008817:Mice, Mutant Strains; D009687:Nuclear Proteins; D051761:Paired Box Transcription Factors; D010641:Phenotype; D010902:Pituitary Gland / Q000196:embryology* / Q000502:physiology; D012097:Repressor Proteins; D000072056:Transcription Factor HES-1; D014157:Transcription Factors / Q000235:genetics / Q000502:physiology*; D000097577:Homeobox Protein PITX2
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D018398:Homeodomain Proteins; D009687:Nuclear Proteins; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins; D000072056:Transcription Factor HES-1; D014157:Transcription Factors; D000097577:Homeobox Protein PITX2; C489736:HESX1 protein, human; C489734:Hes1 protein, mouse; C489733:Hesx1 protein, mouse; C102134:Prophet of Pit-1 protein; C101485:homeobox protein PITX1; C433629:homeobox protein PITX3; C078493:HES1 protein, human