科学家已经发现人的生物钟基因，如果这个基因发生变异，可能导致人的生物节律像早起的鸟一样，也就是说，在清晨四点钟就会起床。生物钟基因的发现打开了通向人类生物钟的遗传基础的一扇窗户。

　　以前，科学家已经在果蝇、小鼠等其它生物体上发现了生物钟基因。当时人们认为，人类也一定存在这种基因，但一直没有找到直接的证据。美国犹他州大学的一个Ying-Hui Fu付映辉研究组对这个难题进行了攻关。

　　Ying-Hui Fu的研究组研究一家患家族性睡眠综合症。研究者认为生物钟基因可能在第二号染色体末端。被研究的这个家庭，几乎没有一个人睡眠正常。在他们的染色体上发现了一个发生突变的基因——hPer2。

　　Ying-Hui Fu和它的同事们正在寻找与由hPer2翻译的蛋白质相关的分子，这是发展调节生物钟药物的第一步。

　　原文：Researchers have identified the first gene involved in the circadian clock of humans. When mutated, the gene turns people into extreme early birds, rising, say, at the ungodly hour of 4:00 a.m. The discovery opens a window into the genetic basis of the human circadian clock, which keeps body activities such as sleeping and eating on a roughly 24-hour rhythm.

　　Genes that drive circadian clocks have been found in fruit flies, mice, and other species. Humans seem to have equivalents, but there was no direct evidence that those genes actually help keep the human clock ticking. Often, the best way to find a gene is to look for a problem, and that was exactly the strategy of a team led by Ying-Hui Fu of the University of Utah in Salt Lake City.

　　Fu's team examined a large family that suffers from a rare syndrome called familial advanced sleep-phase syndrome, which sets their sleep schedules ahead by about 4 hours. Combing through the DNA of family members, the researchers homed in on the end of chromosome 2 as the likely site of the defective gene. Most of the afflicted family members, but none of those who sleep normally, carry a single base-pair mutation in a gene called hPer2, the researchers report 12 January in a paper published online in Science.

　　"It's the first example of a circadian clock gene in a human," says Joseph Takahashi, a geneticist at Northwestern University in Evanston, Illinois. Fu and colleagues are searching for molecules that interact with the protein built by hPer2, as a first step toward developing drugs that might speed up or slow down the clock.

from: sciencenow.sciencemag88

译:中基网　　张继舫

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