Know Your Model: How essential is that essential gene?

Bello, Susan M.; Berry, Michael; Smith, Cynthia L.

doi:10.1038/s41684-019-0444-1

Cited by 2 publications

(1 citation statement)

References 15 publications

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“…Discrepancies in lethality between mouse knockouts from the IMPC and other models collated by MGI can be found in ~ 10% of the lines (Cacheiro et al 2020 ). The impact of genetic background on the particular phenotype of essentiality has been investigated in different model organisms (Hou et al 2019 ; Bello et al 2020 ). Additionally, within one species gene essentiality may be ‘bypassable’ by monogenic suppressors (Li et al 2019 ; van Leeuwen, et al 2020 ).…”

Section: What Is the Actual Number Of Essential Genes?mentioning

confidence: 99%

Essential genes: a cross-species perspective

Cacheiro

Smedley

2023

Mamm Genome

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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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