Sivanantharajah Lovesha, Percival-Smith Anthony
Department of Biology, University of Western Ontario, London, Ontario N6A 5B7, Canada.
Genetics. 2009 May;182(1):191-203. doi: 10.1534/genetics.109.100438. Epub 2009 Mar 16.
The Drosophila Hox gene, Sex combs reduced (Scr), is required for patterning the larval and adult, labial and prothoracic segments. Fifteen Scr alleles were sequenced and the phenotypes analyzed in detail. Six null alleles were nonsense mutations (Scr(2), Scr(4), Scr(11), Scr(13), Scr(13A), and Scr(16)) and one was an intragenic deletion (Scr(17)). Five hypomorphic alleles were missense mutations (Scr(1), Scr(3), Scr(5), Scr(6), and Scr(8)) and one was a small protein deletion (Scr(15)). Protein sequence changes were found in four of the five highly conserved domains of SCR: the DYTQL motif (Scr(15)), YPWM motif (Scr(3)), Homeodomain (Scr(1)), and C-terminal domain (CTD) (Scr(6)), indicating importance for SCR function. Analysis of the pleiotropy of viable Scr alleles for the formation of pseudotracheae suggests that the DYTQL motif and the CTD mediate a genetic interaction with proboscipedia. One allele Scr(14), a missense allele in the conserved octapeptide, was an antimorphic allele that exhibited three interesting genetic properties. First, Scr(14)/Df had the same phenotype as Scr(+)/Df. Second, the ability of the Scr(14) allele to interact intragenetically with Scr alleles mapped to the first 82 amino acids of SCR, which contains the octapeptide motif. Third, Scr(6), which has two missense changes in the CTD, did not interact genetically with Scr(14).
果蝇同源异型基因“性梳减少”(Scr)对于幼虫和成虫的唇节和前胸节模式形成是必需的。对15个Scr等位基因进行了测序,并详细分析了其表型。6个无效等位基因为无义突变(Scr(2)、Scr(4)、Scr(11)、Scr(13)、Scr(13A)和Scr(16)),1个为基因内缺失(Scr(17))。5个亚效等位基因为错义突变(Scr(1)、Scr(3)、Scr(5)、Scr(6)和Scr(8)),1个为小蛋白缺失(Scr(15))。在SCR的5个高度保守结构域中的4个发现了蛋白质序列变化:DYTQL基序(Scr(15))、YPWM基序(Scr(3))、同源结构域(Scr(1))和C末端结构域(CTD)(Scr(6)),表明这些结构域对SCR功能很重要。对存活的Scr等位基因形成假气管的多效性分析表明,DYTQL基序和CTD介导了与触须基因的遗传相互作用。一个等位基因Scr(14)是保守八肽中的错义等位基因,是一个反效等位基因,表现出三个有趣的遗传特性。第一,Scr(14)/Df与Scr(+)/Df具有相同的表型。第二,Scr(14)等位基因与定位到SCR前82个氨基酸(包含八肽基序)的Scr等位基因进行基因内相互作用的能力。第三,在CTD中有两个错义变化的Scr(6)与Scr(14)没有遗传相互作用。