Biological Research Centre, Eötvös Loránd Research Network, Szeged, Hungary.
Doctoral School of Biology, University of Szeged, Szeged, Hungary.
Biol Futur. 2022 Jun;73(2):149-155. doi: 10.1007/s42977-022-00118-3. Epub 2022 May 4.
Lysosomal degradation of cytoplasmic components by autophagy ensures the continuous turnover of proteins and organelles and aids cellular survival during nutrient deprivation and other stress conditions. Lysosomal targeting of cytoplasmic proteins and organelles requires the concerted action of several proteins and multisubunit complexes. The core components of this machinery are conserved from yeast to humans and many of them are well-characterized; however, novel molecular players have been recently discovered and are waiting for detailed analysis. The osteopetrosis-linked PLEKHM1 protein is a lysosomal adaptor involved in autophagosome and endosome to lysosome fusion events and its role in lysosomal positioning in osteoclasts was reported together with its proposed binding partner, the relatively uncharacterized DEF8 protein. Here, we report the generation and subsequent analysis of novel mutant alleles of Drosophila plekhm1 and def8. Interestingly, the CRISPR-generated null mutations of these genes do not have any obvious effects on autophagy in Drosophila tissues, even though RNAi knockdown of these genes seems to perturb autophagy. Although these results are quite surprising and raise the possibility of compensatory changes in the case of null mutants, the new alleles will be valuable tools in future studies to understand the cellular functions of Drosophila Plekhm1 and Def8 proteins.
自噬通过溶酶体降解细胞质成分,确保蛋白质和细胞器的持续更新,并有助于细胞在营养缺乏和其他应激条件下存活。细胞质蛋白和细胞器的溶酶体靶向需要几种蛋白质和多亚基复合物的协同作用。该机制的核心成分从酵母到人都是保守的,其中许多已经得到很好的描述;然而,最近发现了新的分子参与者,正在等待详细分析。与骨硬化症相关的 PLEKHM1 蛋白是一种溶酶体衔接蛋白,参与自噬体和内体到溶酶体融合事件,其在破骨细胞中的溶酶体定位作用及其假定的结合伴侣相对未被表征的 DEF8 蛋白一起被报道。在这里,我们报告了果蝇 plekhm1 和 def8 的新型突变等位基因的产生和随后的分析。有趣的是,这些基因的 CRISPR 产生的无效突变对果蝇组织中的自噬没有任何明显影响,尽管这些基因的 RNAi 敲低似乎扰乱了自噬。尽管这些结果非常令人惊讶,并提出了在无效突变体情况下补偿变化的可能性,但新的等位基因将是未来研究理解果蝇 Plekhm1 和 Def8 蛋白的细胞功能的有价值的工具。