《生命科学》 2011, 23(5): 465-469

生物节律基因period3的研究进展

安怀杰¹，俞炜源²，赵晓航^1*

(1 海军总医院全军航海航空医学中心，北京 100037；2 军事医学科学院生物工程研究所，北京 100071)

摘　要：摘　要：昼夜节律是所有真核生物和部分原核生物的基本特征，一组节律表达的生物钟基因形成24 h周期振荡的自主调节转录-翻译反馈回路。period (per)基因家族是生物钟反馈回路中重要组成成分，per3基因是period基因家族成员之一。人类的per3基因定位于染色体1p36，其编码区第18外显子中含有一个灵长类特有的串联重复序列(variable number tandem repeat， VNTR)。该VNTR包含一簇理论上的磷酸化位点，能影响PER3蛋白的磷酸化降解，影响PER3蛋白的功能。近年研究发现，per3基因多态性与睡眠结构、睡眠紊乱发病年龄、睡眠剥夺后次日清晨执行能力等密切相关。
关键词：昼夜节律；钟基因；period3基因；串联重复多态性

Research advances of circadian rhythms gene period3

AN Huai-Jie¹， YU Wei-Yuan²， ZHAO Xiao-Hang^1*

(1 Medical Center of Navigation & Aviation of PLA， Navy General Hospital， Beijing 100037， China; 2 Institute of Bioengineering， Academy of Military Medical Sciences， Beijing 100071， China )

Abstract: Abstract: Circadian rhythms represent a type of cellular regulation common to eukaryotes and some of the prokaryotes. Circadian oscillations are cell autonomous. They operate through a negative feedback loop and a set of genes has been discovered as the genetic basis of this phenomenon. Period (per) gene family is an important component of the 24 h cycle. Among these per family clock genes， per3， located in 1p36， is of special interest since it contains a variable number of tandem repeats (VNTR) polymorphism in the coding region， which is unique to primates. These repeated units contain a cluster of putative phosphorylation sites， and this polymorphism can then influence PER3 function. It is concerned with age at onset of bipolar disorder. Evidences show that the per3 polymorphism predicts sleep structure， as well as the cognitive and executive administration when sleep deprived. The present review will summarize recent findings concerning the relationship between per3 and circadian rhythms.
Key words: circadian rhythm; clock gene; period3 gene; variable number tandem repeat polymorphism (VNTR)