首页|Combining single-cell profiling and functional analysis explores the role of pseudogenes in human early embryonic development

Combining single-cell profiling and functional analysis explores the role of pseudogenes in human early embryonic development

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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 pseu-dogenes 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 pseudo-genes 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,sug-gesting 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.

PseudogeneHuman early embryonic developmentNon-coding RNAHuman embryonic stem cell

Mengyao Sun、Le Chang、Liu He、Li Wang、Zhengyang Jiang、Yanmin Si、Jia Yu、Yanni Ma

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State Key Laboratory of Common Mechanism Research for Major Diseases,Key Laboratory of RNA and Hematopoietic Regulation,Institute of Basic Medical Sciences,Chinese Academy of Medical Sciences,School of Basic Medicine Peking Union Medical College,Beijing 100005,China

Institute of Blood Transfusion,Chinese Academy of Medical Sciences and Peking Union Medical College,Chengdu,Sichuan 610052,China

Department of Obstetrics,Haidian District Maternity and Child Health Hospital,Beijing 100080,China

Institute of Hematology and Blood Diseases Hospital,Chinese Academy of Medical Sciences and Peking Union Medical Col

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2024

10.1016/j.jgg.2024.07.013

遗传学报
中国遗传学会 中国科学院遗传与发育生物学研究所

遗传学报

CSTPCD
影响因子：0.821
ISSN：1673-8527
年,卷(期)：2024.51(11)