Hjalt T A, Semina E V, Amendt B A, Murray J C
Department of Pediatrics, University of Iowa, Iowa City 52242, USA.
Dev Dyn. 2000 May;218(1):195-200. doi: 10.1002/(SICI)1097-0177(200005)218:1<195::AID-DVDY17>3.0.CO;2-C.
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.
里格尔综合征是一种常染色体显性疾病，涉及眼部、牙齿和脐部缺陷，由双尾型同源框蛋白PITX2的突变引起。小鼠Pitx2 mRNA在眼睛、牙齿和脐部表达，与人类里格尔综合征的表型一致。此外，Pitx2参与决定左右极性的Nodal/音猬因子信号通路。在本报告中，我们使用Pitx2特异性抗体（命名为P2R10）在大鼠垂体细胞系核提取物的蛋白质印迹上证实了一种32 kDa的多肽。我们还首次描述了Pitx2蛋白在小鼠中的表达。在眼睛、牙齿、脐部发育过程中以及垂体、心脏、肠道和肢体中均可检测到Pitx2蛋白免疫染色。我们首次直接证明Pitx2在心脏、肠道和肺的早期发育中不对称表达。
