Hamblen M J, White N E, Emery P T, Kaiser K, Hall J C
Department of Biology, Brandeis University, Waltham, Massachusetts 02254, USA.
Genetics. 1998 May;149(1):165-78. doi: 10.1093/genetics/149.1.165.
Of the mutationally defined rhythm genes in Drosophila melanogaster, period (per) has been studied the most. We have molecularly characterized three older per mutants-perT, perClk, and per04-along with a novel long-period one (perSLIH). Each mutant is the result of a single nucleotide change. perT, perClk, and perSLIH are accounted for by amino acid substitutions; per04 is altered at a splice site acceptor and causes aberrant splicing. perSLIH exhibits a long period of 27 hr in constant darkness and entrains to light/dark (L/D) cycles with a later-than-normal evening peak of locomotion. perSLIH males are more rhythmic than females. perSLIH's clock runs faster at higher temperatures and slower at lower ones, exhibiting a temperature-compensation defect opposite to that of perLong. The per-encoded protein (PER) in the perT mutant cycles in L/D with an earlier-than-normal peak; this peak in perSLIH is later than normal, and there was a slight difference in the PER timecourse of males vs. females. PER in per04 was undetectable. Two of these mutations, perSLIH and perClk, lie within regions of PER that have not been studied previously and may define important functional domains of this clock protein.
在黑腹果蝇中经突变定义的节律基因中,周期基因(per)的研究最为深入。我们对三个较老的per突变体——perT、perClk和per04,以及一个新的长周期突变体(perSLIH)进行了分子特征分析。每个突变体都是单个核苷酸变化的结果。perT、perClk和perSLIH是由氨基酸替换引起的;per04在剪接受体位点发生改变,导致异常剪接。perSLIH在持续黑暗中表现出27小时的长周期,并且能与光/暗(L/D)循环同步,其运动的傍晚峰值比正常情况晚。perSLIH雄性比雌性更具节律性。perSLIH的生物钟在较高温度下运行得更快,在较低温度下运行得更慢,表现出与perLong相反的温度补偿缺陷。perT突变体中由per编码的蛋白质(PER)在L/D循环中峰值出现得比正常情况早;perSLIH中的这个峰值比正常情况晚,并且雄性和雌性的PER时间进程存在细微差异。per04中未检测到PER。其中两个突变,perSLIH和perClk,位于之前未研究过的PER区域内,可能定义了这种生物钟蛋白的重要功能域。