Neonatal lethality of LGR5 null mice is associated with ankyloglossia and gastrointestinal distension
Neonatal lethality of LGR5 null mice is associated with ankyloglossia and gastrointestinal distension
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DOI：
10.1128/mcb.24.22.9736-9743.2004
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发表时间：
2004-11-01
影响因子：
5.3
通讯作者：
Hsueh, AJW
中科院分区：
文献类型：
--
作者：
Morita, H;Mazerbourg, S;Hsueh, AJW
孤儿G蛋白偶联受体，LGR 5，的生理作用进行了研究，有针对性地删除这个七跨膜蛋白含有一个大的N-末端胞外结构域与富含亮氨酸的重复序列。LGR 5敲除小鼠表现出100%的新生儿致死率，其特征在于胃肠道因空气而扩张，并且胃中没有乳汁。大体和组织学检查显示，融合的舌的突变体新生儿和LGR 5表达的舌上皮和野生型胚胎的下颌骨的口腔底部和免疫染色。观察到的舌系带过短表型提供了一个模型，用于了解这种颅面缺陷在人类的遗传基础，并有机会阐明LGR 5信号系统在胚胎发育过程中的生理作用。
The physiological role of an orphan G protein-coupled receptor, LGR5, was investigated by targeted deletion of this seven-transmembrane protein containing a large N-terminal extracellular domain with leucine-rich repeats. LGR5 null mice exhibited 100% neonatal lethality characterized by gastrointestinal tract dilation with air and an absence of milk in the stomach. Gross and histological examination revealed fusion of the tongue to the floor of oral cavity in the mutant newborns and immunostaining of LGR5 expression in the epithelium of the tongue and in the mandible of the wild-type embryos. The observed ankyloglossia phenotype provides a model for understanding the genetic basis of this craniofacial defect in humans and an opportunity to elucidate the physiological role of the LGR5 signaling system during embryonic development.