IGH, Centre National de la Recherche Scientifique, Univ Montpellier, Montpellier, France.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America.
PLoS Genet. 2021 Jan 19;17(1):e1009287. doi: 10.1371/journal.pgen.1009287. eCollection 2021 Jan.
Huntington's disease is a progressive autosomal dominant neurodegenerative disorder caused by the expansion of a polyglutamine tract at the N-terminus of a large cytoplasmic protein. The Drosophila huntingtin (htt) gene is widely expressed during all developmental stages from embryos to adults. However, Drosophila htt mutant individuals are viable with no obvious developmental defects. We asked if such defects could be detected in htt mutants in a background that had been genetically sensitized to reveal cryptic developmental functions. Amyloid precursor protein (APP) is linked to Alzheimer's disease. Appl is the Drosophila APP ortholog and Appl signaling modulates axon outgrowth in the mushroom bodies (MBs), the learning and memory center in the fly, in part by recruiting Abl tyrosine kinase. Here, we find that htt mutations suppress axon outgrowth defects of αβ neurons in Appl mutant MB by derepressing the activity of Abl. We show that Abl is required in MB αβ neurons for their axon outgrowth. Importantly, both Abl overexpression and lack of expression produce similar phenotypes in the MBs, indicating the necessity of tightly regulating Abl activity. We find that Htt behaves genetically as a repressor of Abl activity, and consistent with this, in vivo FRET-based measurements reveal a significant increase in Abl kinase activity in the MBs when Htt levels are reduced. Thus, Appl and Htt have essential but opposing roles in MB development, promoting and suppressing Abl kinase activity, respectively, to maintain the appropriate intermediate level necessary for axon growth.
亨廷顿病是一种渐进的常染色体显性神经退行性疾病,由大细胞质蛋白 N 端的多聚谷氨酰胺链的扩展引起。果蝇亨廷顿基因(htt)在从胚胎到成年的所有发育阶段都广泛表达。然而,果蝇 htt 突变个体具有生存能力,没有明显的发育缺陷。我们想知道,如果在遗传上敏感的背景下检测到 htt 突变体,是否可以检测到这种缺陷,以揭示潜在的发育功能。淀粉样前体蛋白(APP)与阿尔茨海默病有关。Appl 是果蝇 APP 的直系同源物,Appl 信号通过招募 Abl 酪氨酸激酶,调节蘑菇体(MB)中的轴突生长,MB 是苍蝇的学习和记忆中心。在这里,我们发现 htt 突变通过去抑制 Abl 的活性来抑制 Appl 突变体 MB 中αβ神经元的轴突生长缺陷。我们表明 Abl 在 MB αβ 神经元中对于它们的轴突生长是必需的。重要的是,Abl 的过表达和缺乏表达在 MB 中产生相似的表型,表明 Abl 活性需要严格调控。我们发现 Htt 作为 Abl 活性的抑制剂在遗传上起作用,并且与这一致,体内基于 FRET 的测量显示当 Htt 水平降低时,MB 中的 Abl 激酶活性显著增加。因此,Appl 和 Htt 在 MB 发育中具有重要但相反的作用,分别促进和抑制 Abl 激酶活性,以维持轴突生长所需的适当中间水平。