title: The Pitx2 protein in mouse development.
abstract: The Rieger syndrome, an autosomal dominant disorder involving ocular, dental, and umbilical defects is caused by mutations in PITX2, a Bicoid-type homeobox protein. Mouse Pitx2 mRNA is expressed in eye, tooth and umbilicus consistent with the human Riegers phenotype. Moreover, Pitx2 is involved in the Nodal/Sonic hedgehog pathway that determines left/right polarity. In this report we demonstrate a 32-kDa polypeptide on Western blots of nuclear extracts from a rat pituitary cell line, using a Pitx2 specific antibody (designated P2R10). We describe also for the first time expression of the Pitx2 protein in mouse. Pitx2 protein immunostaining was detectable during the development of the eye, tooth, umbilicus, and also in the pituitary, heart, gut, and limb. We demonstrate for the first time directly that Pitx2 is asymmetrically expressed in early heart, gut, and lung development.
authors.affiliation: Department of Pediatrics, University of Iowa, Iowa City 52242, USA.
authors.forename: T A
authors.initials: TA
authors.lastname: Hjalt
authors.forename: E V
authors.initials: EV
authors.lastname: Semina
authors.forename: B A
authors.initials: BA
authors.lastname: Amendt
authors.forename: J C
authors.initials: JC
authors.lastname: Murray
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D000595:Amino Acid Sequence; D000818:Animals; D000906:Antibodies; D003001:Cloning, Molecular; D005124:Eye Abnormalities / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D018507:Gene Expression Regulation, Developmental; D005799:Genes, Dominant; D006321:Heart / Q000196:embryology / Q000502:physiology; D018398:Homeodomain Proteins / Q000032:analysis / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007422:Intestines / Q000002:abnormalities / Q000502:physiology; D051379:Mice; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D051761:Paired Box Transcription Factors; D011247:Pregnancy; D012333:RNA, Messenger / Q000032:analysis; D011817:Rabbits; D014070:Tooth / Q000196:embryology / Q000502:physiology; D014157:Transcription Factors / Q000032:analysis / Q000235:genetics* / Q000276:immunology; D014472:Umbilicus / Q000196:embryology / Q000502:physiology; D000097577:Homeobox Protein PITX2
chemical_list: D000906:Antibodies; D018398:Homeodomain Proteins; D009687:Nuclear Proteins; D051761:Paired Box Transcription Factors; D012333:RNA, Messenger; D014157:Transcription Factors; D000097577:Homeobox Protein PITX2; C101485:homeobox protein PITX1; C433629:homeobox protein PITX3