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果蝇短芒星状刚毛表型与假定的核糖体相关蛋白D-p40对无芒基因的剂量效应有关。

The Drosophila stubarista phenotype is associated with a dosage effect of the putative ribosome-associated protein D-p40 on spineless.

作者信息

Melnick M B, Noll E, Perrimon N

机构信息

Department of Genetics, Harvard Medical School, Boston Massachusetts 02115.

出版信息

Genetics. 1993 Oct;135(2):553-64. doi: 10.1093/genetics/135.2.553.

DOI:10.1093/genetics/135.2.553
PMID:7916731
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1205655/
Abstract

We describe the molecular characterization of the Drosophila melanogaster gene stubarista (sta) that encodes the highly conserved putative ribosome-associated protein D-p40. sta maps to cytological position 2A3-B2 on the X chromosome and encodes a protein (D-p40) of 270 amino acids. D-p40 shares 63% identity with the human p40 ribosomal protein. P element-mediated transformation of a 4.4-kb genomic fragment encompassing the 1-kb transcript corresponding to D-p40 was used to rescue both a lethal (sta2) and a viable (sta1) mutation at the stubarista (sta) locus. Developmental analysis of the sta2 mutation implicates a requirement for D-p40 during oogenesis and imaginal development, which is consistent with the expression of sta throughout development. In addition, we have analyzed the basis of the sta1 visible phenotype which consists of shortened antennae and bristles. sta1 is a translocation of the 1E1-2 to 2B3-4 region of the X chromosome onto the third chromosome at 89B21-C4. We provide genetic evidence that Dp(1;3)sta1 is mutant at the spineless (ss) locus and that it is associated with partial D-p40 activity. We demonstrate that sta1 acts as a recessive enhancer of ss; reduction in the amount of D-p40 provided by the transposed X chromosomal region of sta1 reveals a haplo-insufficient phenotype of the otherwise recessive ss mutations. This phenomenon is reminiscent of the enhancing effect observed with Minute mutations, one of which, rp49, has previously been shown to encode a ribosomal protein.

摘要

我们描述了果蝇黑腹果蝇基因stubarista(sta)的分子特征,该基因编码高度保守的假定核糖体相关蛋白D-p40。sta定位于X染色体的细胞学位置2A3-B2,并编码一个由270个氨基酸组成的蛋白质(D-p40)。D-p40与人p40核糖体蛋白的同一性为63%。利用P因子介导的包含与D-p40对应的1 kb转录本的4.4 kb基因组片段的转化,挽救了stubarista(sta)位点的一个致死突变(sta2)和一个存活突变(sta1)。对sta2突变的发育分析表明,在卵子发生和成虫发育过程中需要D-p40,这与sta在整个发育过程中的表达一致。此外,我们分析了sta1可见表型的基础,该表型由缩短的触角和刚毛组成。sta1是X染色体1E1-2区域到89B21-C4处第三条染色体上2B3-4区域的易位。我们提供了遗传证据,证明Dp(1;3)sta1在无脊椎(ss)位点发生突变,并且它与部分D-p40活性相关。我们证明sta1作为ss的隐性增强子;sta1转座X染色体区域提供的D-p40量的减少揭示了原本隐性的ss突变的单倍体不足表型。这种现象让人想起用Minute突变观察到的增强效应,其中之一rp49先前已被证明编码一种核糖体蛋白。