Circadian clock gene polymorphisms implicated in human pathologies.

IF 13.6 2区 生物学 Q1 GENETICS & HEREDITY
Trends in Genetics Pub Date : 2024-10-01 Epub Date: 2024-06-12 DOI:10.1016/j.tig.2024.05.006
Jesse R Janoski, Ignacio Aiello, Clayton W Lundberg, Carla V Finkielstein
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引用次数: 0

Abstract

Circadian rhythms, ~24 h cycles of physiological and behavioral processes, can be synchronized by external signals (e.g., light) and persist even in their absence. Consequently, dysregulation of circadian rhythms adversely affects the well-being of the organism. This timekeeping system is generated and sustained by a genetically encoded endogenous mechanism composed of interlocking transcriptional/translational feedback loops that generate rhythmic expression of core clock genes. Genome-wide association studies (GWAS) and forward genetic studies show that SNPs in clock genes influence gene regulation and correlate with the risk of developing various conditions. We discuss genetic variations in core clock genes that are associated with various phenotypes, their implications for human health, and stress the need for thorough studies in this domain of circadian regulation.

与人类病症有关的昼夜节律钟基因多态性。
昼夜节律是生理和行为过程的约 24 小时周期,可通过外部信号(如光)实现同步,即使在没有外部信号的情况下也会持续。因此,昼夜节律失调会对生物体的健康产生不利影响。这种计时系统是由基因编码的内源机制产生和维持的,该机制由连锁转录/翻译反馈环路组成,可产生核心时钟基因的节律性表达。全基因组关联研究(GWAS)和前向遗传研究表明,时钟基因中的 SNPs 会影响基因调控,并与罹患各种疾病的风险相关。我们讨论了与各种表型相关的核心时钟基因的遗传变异及其对人类健康的影响,并强调需要对这一昼夜节律调控领域进行深入研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Trends in Genetics
Trends in Genetics 生物-遗传学
CiteScore
20.90
自引率
0.90%
发文量
160
审稿时长
6-12 weeks
期刊介绍: Launched in 1985, Trends in Genetics swiftly established itself as a "must-read" for geneticists, offering concise, accessible articles covering a spectrum of topics from developmental biology to evolution. This reputation endures, making TiG a cherished resource in the genetic research community. While evolving with the field, the journal now embraces new areas like genomics, epigenetics, and computational genetics, alongside its continued coverage of traditional subjects such as transcriptional regulation, population genetics, and chromosome biology. Despite expanding its scope, the core objective of TiG remains steadfast: to furnish researchers and students with high-quality, innovative reviews, commentaries, and discussions, fostering an appreciation for advances in genetic research. Each issue of TiG presents lively and up-to-date Reviews and Opinions, alongside shorter articles like Science & Society and Spotlight pieces. Invited from leading researchers, Reviews objectively chronicle recent developments, Opinions provide a forum for debate and hypothesis, and shorter articles explore the intersection of genetics with science and policy, as well as emerging ideas in the field. All articles undergo rigorous peer-review.
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