More and more studies have demonstrated that pseudogenes possess coding ability,and the functions of their transcripts in the development of diseases have been partially revealed.However,the role of pseudogenes in mai...More and more studies have demonstrated that pseudogenes possess coding ability,and the functions of their transcripts in the development of diseases have been partially revealed.However,the role of pseudogenes in maintenance of normal physiological states and life activities has long been neglected.Here,we identify pseudogenes that are dynamically expressed during human early embryogenesis,showing different expression patterns from that of adult tissues.We explore the expression correlation between pseudogenes and the parent genes,partly due to their shared gene regulatory elements or the potential regulation network between them.The essential role of three pseudogenes,PI4KAP1,TMED10P1,and FBXW4P1,in maintaining self-renewal of human embryonic stem cells is demonstrated.We further find that the three pseudogenes might perform their regulatory functions by binding to proteins or microRNAs.The pseudogene-related single-nucleotide polymorphisms are significantly associated with human congenital disease,further illustrating their importance during early embryonic development.Overall,this study is an excavation and exploration of functional pseudogenes during early human embryonic development,suggesting that pseudogenes are not only capable of being specifically activated in pathological states,but also play crucial roles in the maintenance of normal physiological states.展开更多
基金supported by the National Key Research and Development Program of China(2021YFA0805703,2019YFA0801800,and 2019YFA0802600)the National Natural Science Foundation of China(82330007,82122005,92268205 and 81970101)+1 种基金CAMS Innovation Fund for Medical Sciences(2021-I2M1-019)Haihe Laboratory of Cell Ecosystem Innovation Fund(22HHXBSS00027)。
文摘More and more studies have demonstrated that pseudogenes possess coding ability,and the functions of their transcripts in the development of diseases have been partially revealed.However,the role of pseudogenes in maintenance of normal physiological states and life activities has long been neglected.Here,we identify pseudogenes that are dynamically expressed during human early embryogenesis,showing different expression patterns from that of adult tissues.We explore the expression correlation between pseudogenes and the parent genes,partly due to their shared gene regulatory elements or the potential regulation network between them.The essential role of three pseudogenes,PI4KAP1,TMED10P1,and FBXW4P1,in maintaining self-renewal of human embryonic stem cells is demonstrated.We further find that the three pseudogenes might perform their regulatory functions by binding to proteins or microRNAs.The pseudogene-related single-nucleotide polymorphisms are significantly associated with human congenital disease,further illustrating their importance during early embryonic development.Overall,this study is an excavation and exploration of functional pseudogenes during early human embryonic development,suggesting that pseudogenes are not only capable of being specifically activated in pathological states,but also play crucial roles in the maintenance of normal physiological states.
