Hilliker A J
Genetics. 1976 Aug;83(4):765-82. doi: 10.1093/genetics/83.4.765.
Until recently, little was known of the genetic constitution of the heterochromatic segments of the major autosomes of Drosophila melanogaster. Our previous report described the genetic dissection of the proximal, heterochromatic region of chromosome 2 of Drosophila melanogaster by means of a series of overlapping deficiencies generated by the detachment of compound second autosomes (HILLIKER and HOLM 1975). Analysis of these deficiencies by inter se complementation, pseudo-dominance tests with proximal mutations and allelism tests with known deficiencies provided evidence for the existence of at least two loci between the centromere and the light locus in 2L and one locus in 2R between the rolled locus and the centromere. These data in conjunction with cytological observations demonstrated that light and rolled and three loci lying between them are located within the proximal heterochromatin of the second chromosome. The present report describes the further analysis of this region through the induction with ethyl methanesulphonate (EMS) of recessive lethals allelic to the 2L and 2R proximal deficiencies associated with the detachment products. Analysis of the 118 EMS-induced recessive lethals and visible mutations recovered provided evidence for seven loci in the 2L heterochromatin and six loci in the 2R heterochromatin, with multiple alleles being obtained for most sites. Of these loci, one in 2L and two in 2R fall near the heterochromatic-euchromatic junctions of 2L and 2R respectively. None of the 113 EMS lethals behaved as a deficiency, implying that the heterochromatic loci uncovered in this study represent nonrepetitive cistrons. Thus functional genetic loci are found in heterochromatin, albeit at a very low density relative to euchromatin.
直到最近,人们对黑腹果蝇主要常染色体异染色质区段的遗传构成仍知之甚少。我们之前的报告描述了通过一系列由复合第二染色体分离产生的重叠缺失,对黑腹果蝇第二号染色体近端异染色质区域进行的遗传剖析(希利克和霍尔姆,1975年)。通过相互间互补分析、用近端突变进行假显性测试以及用已知缺失进行等位性测试,对这些缺失的分析为2L中着丝粒与浅色位点之间至少存在两个基因座以及2R中卷翅位点与着丝粒之间存在一个基因座提供了证据。这些数据与细胞学观察结果相结合,表明浅色、卷翅以及位于它们之间的三个基因座位于第二号染色体的近端异染色质内。本报告描述了通过用甲磺酸乙酯(EMS)诱导与分离产物相关的2L和2R近端缺失的隐性致死等位基因,对该区域进行的进一步分析。对回收的118个EMS诱导的隐性致死突变和可见突变的分析,为2L异染色质中的七个基因座和2R异染色质中的六个基因座提供了证据,大多数位点都获得了多个等位基因。在这些基因座中,2L中的一个和2R中的两个分别靠近2L和2R的异染色质 - 常染色质交界处。这113个EMS致死突变均未表现出缺失的特征,这意味着本研究中发现的异染色质基因座代表非重复顺反子。因此,尽管相对于常染色质而言密度非常低,但在异染色质中发现了功能基因座。