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Human gene essentiality
Nature Reviews Genetics ( IF 42.7 ) Pub Date : 2017-10-30 , DOI: 10.1038/nrg.2017.75
István Bartha , Julia di Iulio , J. Craig Venter , Amalio Telenti

A gene can be defined as essential when loss of its function compromises viability of the individual (for example, embryonic lethality) or results in profound loss of fitness. At the population level, identification of essential genes is accomplished by observing intolerance to loss-of-function variants. Several computational methods are available to score gene essentiality, and recent progress has been made in defining essentiality in the non-coding genome. Haploinsufficiency is emerging as a critical aspect of gene essentiality: approximately 3,000 human genes cannot tolerate loss of one of the two alleles. Genes identified as essential in human cell lines or knockout mice may be distinct from those in living humans. Reconciling these discrepancies in how we evaluate gene essentiality has applications in clinical genetics and may offer insights for drug development.



中文翻译:

人类基因的重要性

当基因的功能丧失影响个体的生存能力(例如,胚胎致死率)或导致严重的适应能力丧失时,可以将其定义为必不可少的基因。在人群一级,通过观察对功能丧失型变异的不耐受性来鉴定必需基因。有几种计算方法可用于对基因必要性进行评分,并且在定义非编码基因组中的必要性方面已取得了最新进展。单倍性不足正在成为基因必要性的关键方面:大约3,000个人类基因不能忍受两个等位基因之一的丢失。在人类细胞系或基因敲除小鼠中被鉴定为必不可少的基因可能与活着的人类不同。

更新日期:2017-10-30
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