Constitutive Activation of HH-GLI Signaling in the Metanephric Mesenchyme causes Ureteropelvic Junction Obstruction during Mammalian Embryogenesis

This study explores the underlying pathogenic mechanisms of congenital intrinsic obstruction of the ureteropelvic junction. A hedgehog-dependent mechanism underlying mammalin intrinsic ureteropelvic obstruction is defined. Overall design: Tissue was microdissected from the kidney-ureter junction at E13.5, one day after the onset of Ptc2-lacZ expression, from PTC-/-MM mice; 2 PTC2+ and 2 PTC2- cell populations were isolated using antibodies specific for PTC2 and FACS sorting.

本研究探讨了先天性肾盂输尿管连接部梗阻（congenital intrinsic obstruction of the ureteropelvic junction）的潜在致病机制，并明确了哺乳动物固有肾盂输尿管梗阻的音猬因子（Hedgehog）依赖型致病机制。
整体实验设计：于Ptc2-lacZ表达启动后1天的胚胎第13.5天，从PTC-/-MM小鼠的肾-输尿管连接部显微切割获取组织；利用靶向PTC2的特异性抗体及荧光激活细胞分选（fluorescence-activated cell sorting, FACS）技术，分离得到2个PTC2阳性细胞群与2个PTC2阴性细胞群。