Jackson F R, Bargiello T A, Yun S H, Young M W
Nature. 1986;320(6058):185-8. doi: 10.1038/320185a0.
Genes controlling biological rhythms have been identified in Drosophila. The best characterized of these genes is called period (per). Although wild-type flies have daily (circadian) rhythms with a periodicity of approximately 24 h, pers and per1 mutants have 19-h and 29-h rhythms, respectively, and pero mutants are arrhythmic. The pers mutation also enhances the sensitivity of the circadian clock to resetting by light stimuli, and all three types of per mutations affect a much shorter period ultradian rhythm, the 55-s rhythm of the Drosophila courtship song. A fragment of DNA of approximately 7 kilobases (kb) encoding a 4.5-kb poly(A)+ RNA restores rhythmicity when transduced into Drosophila carrying mutations or chromosomal deletions of the per locus. Here we report the sequence of this biologically active segment of DNA. The transcription unit that encodes the 4.5-kb RNA has been mapped, permitting a conceptual translation of a protein of 1,127 amino acids. Several abnormal phenotypes characterized by long-period rhythms are associated with changes in the sequence of untranslated portions of the transcription unit. The structure of some segments of the predicted protein suggests that it is a proteoglycan.
在果蝇中已鉴定出控制生物节律的基因。其中最具特征的基因称为周期基因（per）。虽然野生型果蝇具有约24小时周期的每日（昼夜）节律，但per s和per1突变体分别具有19小时和29小时的节律，而pero突变体则无节律。per s突变还增强了生物钟对光刺激重置的敏感性，并且所有这三种类型的per突变都会影响一种周期更短的超日节律，即果蝇求偶歌的55秒节律。当将一段约7千碱基（kb）编码4.5 kb聚腺苷酸加尾（poly(A)+）RNA的DNA片段导入携带per基因座突变或染色体缺失的果蝇中时，可恢复其节律性。在此我们报告这段具有生物活性的DNA片段的序列。已对编码4.5 kb RNA的转录单位进行了定位，从而可以对一个由1127个氨基酸组成的蛋白质进行概念性翻译。几种以长周期节律为特征的异常表型与转录单位非翻译部分序列的变化有关。预测蛋白质某些片段的结构表明它是一种蛋白聚糖。
