The leucine-rich repeats and PDZ (LAP) family of genes are crucial for the maintenance of cell polarity as well as for epithelial homeostasis and tumor suppression in both vertebrates and invertebrates.Four members of...The leucine-rich repeats and PDZ (LAP) family of genes are crucial for the maintenance of cell polarity as well as for epithelial homeostasis and tumor suppression in both vertebrates and invertebrates.Four members of this gene family are known:densin,erbin,scribble and lano.Here,we identified the four members of the LAP gene family in Xenopus tropicalis and studied their expression patterns during embryonic development.The Xenopus LAP proteins show a conserved domain structure that is similar to their homologs in other vertebrates.In Xenopus embryos,these genes were detected in animal cap cells at the early gastrula stage.At later stages of development,they were widely expressed in epithelial tissues that are highly polar in nature,including the neural epithelia,optic and otic vesicles,and in the pronephros.These data suggest that the roles of the Xenopus LAP genes in the control of cell polarity and morphogenesis are conserved during early development.Erbin and lano show similar expression patterns in the developing head,suggesting potential functional interactions between the two molecules in vivo.展开更多
目的筛选中枢神经系统病变组织中神经管缺陷(NTDs)发病相关的Scribble(SCRIB)基因的突变位点,并探讨突变来源,鉴定其是否为体细胞突变。方法用Ion Personal Genome Machine(PGM)测序技术检测28例NTDs患儿病变处和脐带组织DNA,筛选体细...目的筛选中枢神经系统病变组织中神经管缺陷(NTDs)发病相关的Scribble(SCRIB)基因的突变位点,并探讨突变来源,鉴定其是否为体细胞突变。方法用Ion Personal Genome Machine(PGM)测序技术检测28例NTDs患儿病变处和脐带组织DNA,筛选体细胞突变位点,并用Sanger测序对病变处和脐带、皮肤、心脏、肌肉、胸腺和肺组织DNA进行测序。进一步扩大样本量(51例病例)验证已发现突变。结果对28名NTDs患儿进行PGM测序,在1例患儿病变处检测到c.1931G>C突变;另1例患儿病变处检测到c.1265C>T突变;在该2名患儿脐带组织中未检测到相应的突变,提示c.1931G>C和c.1265C>T为体细胞突变。其中1名患儿用Sanger法测序在皮肤、心脏、肌肉、胸腺和肺组织均检测到c.1931G>C突变;另1名患儿的各非病变组织均未检测到c.1265C>T突变。扩大样本量研究没有检测到c.1931G>C突变;在5名患儿的病变处及各非病变组织中均检测到c.1265C>T多态性变异,提示此突变在这5名患者中可能来源于父母。结论 NTDs的发生不仅与SCRIB基因来源于父母的突变有关,还与体细胞突变有关,体细胞突变理论可为NTDs发生的遗传机制提供新的思路。展开更多
基金supported by the Key State Research Program from Ministry of Science and Technology of China (Grant No.2007CB947201)the State Key Laboratory of Genetic Resources and Evolution
文摘The leucine-rich repeats and PDZ (LAP) family of genes are crucial for the maintenance of cell polarity as well as for epithelial homeostasis and tumor suppression in both vertebrates and invertebrates.Four members of this gene family are known:densin,erbin,scribble and lano.Here,we identified the four members of the LAP gene family in Xenopus tropicalis and studied their expression patterns during embryonic development.The Xenopus LAP proteins show a conserved domain structure that is similar to their homologs in other vertebrates.In Xenopus embryos,these genes were detected in animal cap cells at the early gastrula stage.At later stages of development,they were widely expressed in epithelial tissues that are highly polar in nature,including the neural epithelia,optic and otic vesicles,and in the pronephros.These data suggest that the roles of the Xenopus LAP genes in the control of cell polarity and morphogenesis are conserved during early development.Erbin and lano show similar expression patterns in the developing head,suggesting potential functional interactions between the two molecules in vivo.
文摘目的筛选中枢神经系统病变组织中神经管缺陷(NTDs)发病相关的Scribble(SCRIB)基因的突变位点,并探讨突变来源,鉴定其是否为体细胞突变。方法用Ion Personal Genome Machine(PGM)测序技术检测28例NTDs患儿病变处和脐带组织DNA,筛选体细胞突变位点,并用Sanger测序对病变处和脐带、皮肤、心脏、肌肉、胸腺和肺组织DNA进行测序。进一步扩大样本量(51例病例)验证已发现突变。结果对28名NTDs患儿进行PGM测序,在1例患儿病变处检测到c.1931G>C突变;另1例患儿病变处检测到c.1265C>T突变;在该2名患儿脐带组织中未检测到相应的突变,提示c.1931G>C和c.1265C>T为体细胞突变。其中1名患儿用Sanger法测序在皮肤、心脏、肌肉、胸腺和肺组织均检测到c.1931G>C突变;另1名患儿的各非病变组织均未检测到c.1265C>T突变。扩大样本量研究没有检测到c.1931G>C突变;在5名患儿的病变处及各非病变组织中均检测到c.1265C>T多态性变异,提示此突变在这5名患者中可能来源于父母。结论 NTDs的发生不仅与SCRIB基因来源于父母的突变有关,还与体细胞突变有关,体细胞突变理论可为NTDs发生的遗传机制提供新的思路。
