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近日节律是生命体生理及行为变量遵循内源性的以接近1 个太阳日的周期进行循环的生物过程，人体近日节律调控机制及其相关疾病研究已成为当前生物医学新兴领域和研究热点。过去二十年间, 以生物钟基因及其相互作用环路为核心的一系列机制研究不断取得新的进展，初步形成了近日节律的分子模型，近年来，生物钟基因在染色体重塑、转录翻译调控、转录后修饰等多个层次的调控模式得到深入的研究。同时，近日节律失控与肿瘤、代谢紊乱等临床疾病的相关性及其影响机的转化研究日益增多，形成了新兴的时间医学。本文谨就近年来近日节律分子机制及其疾病相关研究的概况和最新进展做一总结。

英文摘要:

In mammals, an endogenous timing system synchronizes physiology and behavior to the rhythmic succession of day and night. On the cellular level which is the core mechanism of this system, a number of so-called clock genes were discovered, and these genes and their protein products were shown to organize into a transcriptional/translational feedback loops to give a near 24h rhythm. Recent years, several new clock components have been identified, there is now evidence that transcription may not play an only central role in determining the functioning of the clock: the identification of post-translational modifications of the clock proteins and the chromatin remodeling has revealed new levels of control. Disruption of the genes necessary for the circadian clock to function has diverse effects, including metabolism disorder disease and tumors. This review describes the recent advances in our knowledge of the molecular clockwork and correlated disease with human.

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