Ma Jingqun, Brennan Kaelan J, D'Aloia Mitch R, Pascuzzi Pete E, Weake Vikki M
Department of Biochemistry, Purdue University, West Lafayette, Indiana 47907.
Department of Biochemistry, Purdue University, West Lafayette, Indiana 47907 Purdue University Libraries, Purdue University, West Lafayette, Indiana 47907 Purdue University Center for Cancer Research, Purdue University, West Lafayette, Indiana 47907.
G3 (Bethesda). 2016 Aug 9;6(8):2435-45. doi: 10.1534/g3.116.031310.
The Spt-Ada-Gcn5 Acetyltransferase (SAGA) complex is a transcriptional coactivator with histone acetylase and deubiquitinase activities that plays an important role in visual development and function. In Drosophila melanogaster, four SAGA subunits are required for the deubiquitination of monoubiquitinated histone H2B (ubH2B): Nonstop, Sgf11, E(y)2, and Ataxin 7. Mutations that disrupt SAGA deubiquitinase activity cause defects in neuronal connectivity in the developing Drosophila visual system. In addition, mutations in SAGA result in the human progressive visual disorder spinocerebellar ataxia type 7 (SCA7). Glial cells play a crucial role in both the neuronal connectivity defect in nonstop and sgf11 flies, and in the retinal degeneration observed in SCA7 patients. Thus, we sought to identify the gene targets of SAGA deubiquitinase activity in glia in the Drosophila larval central nervous system. To do this, we enriched glia from wild-type, nonstop, and sgf11 larval optic lobes using affinity-purification of KASH-GFP tagged nuclei, and then examined each transcriptome using RNA-seq. Our analysis showed that SAGA deubiquitinase activity is required for proper expression of 16% of actively transcribed genes in glia, especially genes involved in proteasome function, protein folding and axon guidance. We further show that the SAGA deubiquitinase-activated gene Multiplexin (Mp) is required in glia for proper photoreceptor axon targeting. Mutations in the human ortholog of Mp, COL18A1, have been identified in a family with a SCA7-like progressive visual disorder, suggesting that defects in the expression of this gene in SCA7 patients could play a role in the retinal degeneration that is unique to this ataxia.
Spt-Ada-Gcn5 乙酰转移酶(SAGA)复合物是一种具有组蛋白乙酰化酶和去泛素化酶活性的转录共激活因子,在视觉发育和功能中发挥重要作用。在黑腹果蝇中,单泛素化组蛋白H2B(ubH2B)的去泛素化需要四个SAGA亚基:Nonstop、Sgf11、E(y)2和Ataxin 7。破坏SAGA去泛素化酶活性的突变会导致发育中的果蝇视觉系统神经元连接出现缺陷。此外,SAGA的突变会导致人类进行性视觉障碍7型脊髓小脑共济失调(SCA7)。神经胶质细胞在nonstop和sgf11果蝇的神经元连接缺陷以及SCA7患者中观察到的视网膜变性中都起着关键作用。因此,我们试图确定果蝇幼虫中枢神经系统中神经胶质细胞中SAGA去泛素化酶活性的基因靶点。为此,我们使用KASH-GFP标记细胞核的亲和纯化方法从野生型、nonstop和sgf11幼虫视叶中富集神经胶质细胞,然后使用RNA测序检查每个转录组。我们的分析表明,SAGA去泛素化酶活性对于神经胶质细胞中16%的活跃转录基因的正确表达是必需的,特别是那些参与蛋白酶体功能、蛋白质折叠和轴突导向的基因。我们进一步表明,SAGA去泛素化酶激活的基因多重蛋白(Mp)在神经胶质细胞中对于光感受器轴突的正确靶向是必需的。在一个患有SCA7样进行性视觉障碍的家族中,已鉴定出Mp的人类直系同源基因COL18A1中的突变,这表明该基因在SCA7患者中的表达缺陷可能在这种共济失调特有的视网膜变性中起作用。