HUGO Gene Nomenclature Committee, European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, Cambridgeshire, UK.
Department of General Pediatrics, University Hospital Muenster, Muenster, Germany.
J Cell Biol. 2022 Feb 7;221(2). doi: 10.1083/jcb.202109014. Epub 2022 Jan 10.
Dyneins are highly complex, multicomponent, microtubule-based molecular motors. These enzymes are responsible for numerous motile behaviors in cytoplasm, mediate retrograde intraflagellar transport (IFT), and power ciliary and flagellar motility. Variants in multiple genes encoding dyneins, outer dynein arm (ODA) docking complex subunits, and cytoplasmic factors involved in axonemal dynein preassembly (DNAAFs) are associated with human ciliopathies and are of clinical interest. Therefore, clear communication within this field is particularly important. Standardizing gene nomenclature, and basing it on orthology where possible, facilitates discussion and genetic comparison across species. Here, we discuss how the human gene nomenclature for dyneins, ODA docking complex subunits, and DNAAFs has been updated to be more functionally informative and consistent with that of the unicellular green alga Chlamydomonas reinhardtii, a key model organism for studying dyneins and ciliary function. We also detail additional nomenclature updates for vertebrate-specific genes that encode dynein chains and other proteins involved in dynein complex assembly.
动力蛋白是高度复杂的、多成分的、基于微管的分子马达。这些酶负责细胞质中许多运动行为,介导逆行鞭毛内运输(IFT),并为纤毛和鞭毛运动提供动力。编码动力蛋白、外动力蛋白臂(ODA) docking 复合物亚基以及参与轴丝动力蛋白预组装的细胞质因子的多个基因中的变体与人类纤毛病有关,具有临床意义。因此,该领域内的清晰沟通尤为重要。标准化基因命名,并尽可能基于同源性,有助于在物种间进行讨论和遗传比较。在这里,我们讨论了如何更新人类动力蛋白、ODA docking 复合物亚基和 DNAAFs 的基因命名,使其更具功能信息性,并与单细胞绿藻衣藻(Chlamydomonas reinhardtii)的基因命名保持一致,衣藻是研究动力蛋白和纤毛功能的关键模式生物。我们还详细介绍了用于编码纤毛动力蛋白链和其他参与动力蛋白复合物组装的蛋白的脊椎动物特异性基因的其他命名更新。