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Review
. 2023 Sep;34(3):357-363.
doi: 10.1007/s00335-023-09984-1. Epub 2023 Mar 10.

Essential genes: a cross-species perspective

Pilar Cacheiro  1 , Damian Smedley  2
Affiliations
Review

Essential genes: a cross-species perspective

Pilar Cacheiro et al. Mamm Genome. 2023 Sep.

Abstract

Protein coding genes exhibit different degrees of intolerance to loss-of-function variation. The most intolerant genes, whose function is essential for cell or/and organism survival, inform on fundamental biological processes related to cell proliferation and organism development and provide a window on the molecular mechanisms of human disease. Here we present a brief overview of the resources and knowledge gathered around gene essentiality, from cancer cell lines to model organisms to human development. We outline the implications of using different sources of evidence and definitions to determine which genes are essential and highlight how information on the essentiality status of a gene can inform novel disease gene discovery and therapeutic target identification.

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Conflict of interest statement

The authors have no conflict of interest to declare.

Figures

Fig. 1
Fig. 1
Essential gene classifications a Essentiality may be cell type/tissue specific, i.e. some genes are essential in all cell lines, some essential genes are only shared by certain lines or tissues and some others may be only essential in one particular tissue. Similarly, for different genetic backgrounds or environments; b Combining information from different sources of evidence (knockout screens in human cell lines and mouse) has led to a distinction between two main sets of essential genes. The boundaries between these categories may not be clearly defined, and the set of ‘core’ or ‘cellular’ essential genes can consenquently differ depending on the criteria and cut-offs selected
Fig. 2
Fig. 2
Genes essential for human organism development Defining a set of essential (lethal) genes in humans may depend on the purpose of the study. A subclassification of lethal genes is suggested based on the associated age of death according to Human Phenotype Ontology (HPO) terms and definitions
See this image and copyright information in PMC

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