Genes essential for embryonic stem cells are associated with neurodevelopmental disorders

Shahar Shohat, Sagiv Shifman*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


Mouse embryonic stem cells (mESCs) are key components in generating mouse models for human diseases and performing basic research on pluripotency, yet the number of genes essential for mESCs is still unknown. We performed a genome-wide screen for essential genes in mESCs and compared it to screens in human cells. We found that essential genes are enriched for basic cellular functions, are highly expressed in mESCs, and tend to lack paralog genes. We discovered that genes that are essential specifically in mESCs play a role in pathways associated with their pluripotent state.We show that 29.5% of human genes intolerant to loss-of-function mutations are essential in mouse or human ESCs, and that the human phenotypes most significantly associated with genes essential for ESCs are neurodevelopmental. Our results provide insights into essential genes in the mouse, the pathways which govern pluripotency, and suggest that many genes associated with neurodevelopmental disorders are essential at very early embryonic stages.

Original languageAmerican English
Pages (from-to)1910-1918
Number of pages9
JournalGenome Research
Issue number11
StatePublished - 2019

Bibliographical note

Publisher Copyright:
© 2019 Shohat and Shifman.


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