Previous studies have shown that octamer-binding transcription factor 4（Oct4） plays a significant role in early embryonic development of mammalian animals, and different Oct4 expression levels induce multi-lineage d...Previous studies have shown that octamer-binding transcription factor 4（Oct4） plays a significant role in early embryonic development of mammalian animals, and different Oct4 expression levels induce multi-lineage differentiation which are regulated by DNA methylation. To explore the relationship between the methylation pattern of Oct4 gene exon 1 and embryonic development, in this work, five different tissues（heart, liver, lung, cerebrum and cerebellum） from three germ layers were chosen from low age（50–60 d） and advanced age（60–70 d） of fetal cattle and the differences between tissues or ages were analyzed, respectively. The result showed that the DNA methylation level of Oct4 gene exon 1 was significant different（P〈0.01） between any two of three germ layers in low age（〈60 d）, but kept steady of advanced age（P〉0.05）（〉60 d）, suggesting that 60-d post coital was an important boundary for embryonic development. In addition, in ectoderm（cerebrum and cerebellum）, there was no significant methylation difference of Oct4 gene exon 1 between low age and advanced age（P〉0.05）, but the result of endoderm（liver and lung） and mesoderm（heart） were on the contrary（P〈0.01）, which indicated the development of ectoderm was earlier than endoderm and mesoderm. The methylation differences from the 3rd, 5th and 9th Cp G-dinucleotide loci of Oct4 gene exon 1 were significantly different between each two of three germ layers（P〈0.05）, indicating that these three loci may have important influence on bovine embryonic development. This study showed that bovine germ layers differentiation was significantly related to the DNA methylation status of Oct4 gene exon 1. This work firstly identified the DNA methylation profile of bovine Oct4 gene exon 1 and its association with germ layers development in fetus and adult of cattle. Moreover, the work also provided epigenetic information for further studying bovine embryonic development and cellular reprogramming.展开更多
报告中国汉族人群首例VAMP2基因突变致伴有肌张力低下的神经发育障碍和自闭症特征伴或不伴运动过度病(neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements,NEDHAHM),以期为临...报告中国汉族人群首例VAMP2基因突变致伴有肌张力低下的神经发育障碍和自闭症特征伴或不伴运动过度病(neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements,NEDHAHM),以期为临床诊治提供借鉴。患儿为14岁女童,以精神行为异常起病,表现为少言少语,基因检测提示VAMP2基因的3号外显子c.166C>T(p.Arg56Ter)杂合突变。对国外同类报告中12例患者资料回顾后发现,该病多在婴幼儿时期发病,男性多于女性,临床预后不佳,4-氨基吡啶可能为此病潜在性治疗药物,可改善患者症状。展开更多
基金supported by the Natural Science Foundation of Shaanxi Province, China (2014JQ3104)the National Natural Science Foundation of China (31000655)China Postdoctoral Science Foundation funded project (2014M560809)
文摘Previous studies have shown that octamer-binding transcription factor 4（Oct4） plays a significant role in early embryonic development of mammalian animals, and different Oct4 expression levels induce multi-lineage differentiation which are regulated by DNA methylation. To explore the relationship between the methylation pattern of Oct4 gene exon 1 and embryonic development, in this work, five different tissues（heart, liver, lung, cerebrum and cerebellum） from three germ layers were chosen from low age（50–60 d） and advanced age（60–70 d） of fetal cattle and the differences between tissues or ages were analyzed, respectively. The result showed that the DNA methylation level of Oct4 gene exon 1 was significant different（P〈0.01） between any two of three germ layers in low age（〈60 d）, but kept steady of advanced age（P〉0.05）（〉60 d）, suggesting that 60-d post coital was an important boundary for embryonic development. In addition, in ectoderm（cerebrum and cerebellum）, there was no significant methylation difference of Oct4 gene exon 1 between low age and advanced age（P〉0.05）, but the result of endoderm（liver and lung） and mesoderm（heart） were on the contrary（P〈0.01）, which indicated the development of ectoderm was earlier than endoderm and mesoderm. The methylation differences from the 3rd, 5th and 9th Cp G-dinucleotide loci of Oct4 gene exon 1 were significantly different between each two of three germ layers（P〈0.05）, indicating that these three loci may have important influence on bovine embryonic development. This study showed that bovine germ layers differentiation was significantly related to the DNA methylation status of Oct4 gene exon 1. This work firstly identified the DNA methylation profile of bovine Oct4 gene exon 1 and its association with germ layers development in fetus and adult of cattle. Moreover, the work also provided epigenetic information for further studying bovine embryonic development and cellular reprogramming.
文摘报告中国汉族人群首例VAMP2基因突变致伴有肌张力低下的神经发育障碍和自闭症特征伴或不伴运动过度病(neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements,NEDHAHM),以期为临床诊治提供借鉴。患儿为14岁女童,以精神行为异常起病,表现为少言少语,基因检测提示VAMP2基因的3号外显子c.166C>T(p.Arg56Ter)杂合突变。对国外同类报告中12例患者资料回顾后发现,该病多在婴幼儿时期发病,男性多于女性,临床预后不佳,4-氨基吡啶可能为此病潜在性治疗药物,可改善患者症状。
