基本基因:跨物种视角。

IF 2.7 4区 生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY
Mammalian Genome Pub Date : 2023-09-01 Epub Date: 2023-03-10 DOI:10.1007/s00335-023-09984-1
Pilar Cacheiro, Damian Smedley
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引用次数: 0

摘要

蛋白质编码基因对功能缺失变异表现出不同程度的不耐受性。最不耐受变异的基因的功能对细胞或/和生物体的存活至关重要,这些基因提供了与细胞增殖和生物体发育相关的基本生物过程的信息,并为人类疾病的分子机制提供了一个窗口。在此,我们将简要介绍围绕基因本质所收集的资源和知识,从癌症细胞系到模式生物再到人类发育。我们概述了使用不同的证据来源和定义来确定哪些基因是必需基因的意义,并强调了有关基因必需性状态的信息如何为新型疾病基因的发现和治疗靶点的确定提供信息。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Essential genes: a cross-species perspective.

Essential genes: a cross-species perspective.

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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来源期刊
Mammalian Genome
Mammalian Genome 生物-生化与分子生物学
CiteScore
4.00
自引率
0.00%
发文量
33
审稿时长
6-12 weeks
期刊介绍: Mammalian Genome focuses on the experimental, theoretical and technical aspects of genetics, genomics, epigenetics and systems biology in mouse, human and other mammalian species, with an emphasis on the relationship between genotype and phenotype, elucidation of biological and disease pathways as well as experimental aspects of interventions, therapeutics, and precision medicine. The journal aims to publish high quality original papers that present novel findings in all areas of mammalian genetic research as well as review articles on areas of topical interest. The journal will also feature commentaries and editorials to inform readers of breakthrough discoveries as well as issues of research standards, policies and ethics.
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