Human gene essentiality

被引：153

作者：

Bartha, Istvan ^{[1
]}

di Iulio, Julia ^{[1
]}

Venter, J. Craig ^{[1
,2
]}

Telenti, Amalio ^{[1
,2
]}

机构：

[1] Human Longev Inc, San Diego, CA 92121 USA

[2] J Craig Venter Inst, Capricorn Lane, La Jolla, CA 92037 USA

来源：

NATURE REVIEWS GENETICS | 2018年 / 19卷 / 01期

关键词：

WHOLE-GENOME ANALYSIS; NONCODING RNAS; CRISPR SCREENS; VARIANTS; IDENTIFICATION; FRAMEWORK; MOUSE; ELEMENTS; LETHALITY; DISCOVERY;

D O I：

10.1038/nrg.2017.75

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：51 / 62

页数：12

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