Department of Pathology and Cell Biology, Columbia University. New York, NY 10032, USA.
Nat Cell Biol. 2010 Dec;12(12):1228-34. doi: 10.1038/ncb2127. Epub 2010 Nov 21.
Mutations in the tail of the cytoplasmic dynein molecule have been reported to cause neurodegenerative disease in mice. The mutant mouse strain Legs at odd angles (Loa) has impaired retrograde axonal transport, but the molecular deficiencies in the mutant dynein molecule, and how they contribute to neurodegeneration, are unknown. To address these questions, we purified dynein from wild-type mice and the Legs at odd angles mutant mice. Using biochemical, single-molecule, and live-cell-imaging techniques, we find a marked inhibition of motor run-length in vitro and in vivo, and significantly altered motor domain coordination in the dynein from mutant mice. These results suggest a potential role for the dynein tail in motor function, and provide direct evidence for a link between single-motor processivity and disease.
已经有报道称,细胞质动力蛋白分子尾部的突变会导致小鼠发生神经退行性疾病。突变型小鼠品系 Legs at odd angles (Loa) 存在逆行轴突运输受损的情况,但突变型动力蛋白分子中的分子缺陷以及它们如何导致神经退行性变尚不清楚。为了解决这些问题,我们从野生型小鼠和 Legs at odd angles 突变型小鼠中纯化了动力蛋白。使用生化、单分子和活细胞成像技术,我们发现体外和体内的运动器行程明显受到抑制,并且突变型小鼠的动力域协调发生了显著改变。这些结果表明动力蛋白尾部在运动功能中可能发挥作用,并为单分子过程与疾病之间的联系提供了直接证据。