Dimitri P
Dipartimento di Genetica e Biologia Molecolare, Università di Roma, Italy.
Genetics. 1991 Mar;127(3):553-64. doi: 10.1093/genetics/127.3.553.
This paper reports the cytogenetic characterization of the second chromosome heterochromatin of Drosophila melanogaster. High resolution cytological analysis of a sample of translocations, inversions, deficiencies and free duplications involving the pericentric regions of the second chromosome was achieved by applying sequential Hoechst 33258 and N-chromosome banding techniques to larval neuroblast prometaphase chromosomes. Heterochromatic rearrangements were employed in a series of complementation assays and the genetic elements previously reported to be within or near the second chromosome heterochromatin were thus precisely assigned to specific heterochromatic bands. The results of this analysis reveal a nonhomogeneous distribution of loci along the second chromosome heterochromatin. The l(2)41Aa, l(2)41Ab, rolled (l(2)41Ac) and l(2)41Ad loci are located within the proximal heterochromatin of 2R, while the nine remaining loci in the left arm and two (l(2)41Ae and l(2)41Ah) in the right arm map to h35 and to h46, respectively, the most distal heterochromatic regions. In addition, a common feature of these loci revealed by the cytogenetic analysis is that they map to specific heterochromatic blocks but do not correspond to the blocks themselves, suggesting that they are not as large as the Y fertility factors or the Rsp locus. Mutations of the proximal most heterochromatic loci, l(2)41Aa and rolled, were also examined for their phenotypic effects. Extensive cell death during imaginal disc development was observed in individuals hemizygous for either the EMS 31 and rolled mutations, leading to a pattern of phenotypic defects of adult structures.
本文报道了黑腹果蝇第二条染色体异染色质的细胞遗传学特征。通过将Hoechst 33258和N染色体显带技术依次应用于幼虫神经母细胞前中期染色体,对涉及第二条染色体着丝粒周围区域的易位、倒位、缺失和游离重复样本进行了高分辨率细胞学分析。在一系列互补试验中采用了异染色体重排,从而将先前报道的位于第二条染色体异染色质内部或附近的遗传元件精确地定位到特定的异染色质带。该分析结果揭示了基因座沿第二条染色体异染色质的非均匀分布。l(2)41Aa、l(2)41Ab、rolled(l(2)41Ac)和l(2)41Ad基因座位于2R的近端异染色质内,而左臂上其余9个基因座和右臂上的两个基因座(l(2)41Ae和l(2)41Ah)分别定位于最远端的异染色质区域h35和h46。此外,细胞遗传学分析揭示的这些基因座的一个共同特征是,它们定位于特定的异染色质块,但并不与这些块本身相对应,这表明它们不像Y育性因子或Rsp基因座那么大。还检查了最近端异染色质基因座l(2)41Aa和rolled的突变的表型效应。在半合子个体中,无论是EMS 31还是rolled突变,在成虫盘发育过程中均观察到广泛的细胞死亡,导致成虫结构出现表型缺陷模式。