Department of Pathology.
Department of Cell and Molecular Biology.
J Clin Invest. 2018 Aug 1;128(8):3319-3332. doi: 10.1172/JCI98194. Epub 2018 Jun 25.
SEC24 family members are components of the coat protein complex II (COPII) machinery that interact directly with cargo or with other adapters to ensure proper sorting of secretory cargo into COPII vesicles. SEC24C is 1 of 4 mammalian SEC24 paralogs (SEC24A-D), which segregate into 2 subfamilies on the basis of sequence homology (SEC24A/SEC24B and SEC24C/SEC24D). Here, we demonstrate that postmitotic neurons, unlike professional secretory cells in other tissues, are exquisitely sensitive to loss of SEC24C. Conditional KO of Sec24c in neural progenitors during embryogenesis caused perinatal mortality and microcephaly, with activation of the unfolded protein response and apoptotic cell death of postmitotic neurons in the murine cerebral cortex. The cell-autonomous function of SEC24C in postmitotic neurons was further highlighted by the loss of cell viability caused by disrupting Sec24c expression in forebrain neurons of mice postnatally and in differentiated neurons derived from human induced pluripotent stem cells. The neuronal cell death associated with Sec24c deficiency was rescued in knockin mice expressing Sec24d in place of Sec24c. These data suggest that SEC24C is a major cargo adapter for COPII-dependent transport in postmitotic neurons in developing and adult brains and that its functions overlap at least partially with those of SEC24D in mammals.
SEC24 家族成员是衣壳蛋白复合物 II(COPII)机器的组成部分,它们直接与货物或其他衔接蛋白相互作用,以确保分泌货物正确分拣到 COPII 小泡中。SEC24C 是哺乳动物 SEC24 同源物(SEC24A-D)中的 1 种,它们根据序列同源性(SEC24A/SEC24B 和 SEC24C/SEC24D)分成 2 个亚家族。在这里,我们证明与其他组织中的专业分泌细胞不同,有丝分裂后神经元对 SEC24C 的缺失非常敏感。胚胎发生期间神经祖细胞中 Sec24c 的条件 KO 导致围产期死亡率和小头症,伴随着未折叠蛋白反应的激活和小鼠大脑皮质有丝分裂后神经元的凋亡性细胞死亡。通过破坏新生后小鼠前脑神经元和源自人诱导多能干细胞的分化神经元中的 Sec24c 表达,进一步突出了 SEC24C 在有丝分裂后神经元中的细胞自主功能。在表达 Sec24d 代替 Sec24c 的敲入小鼠中,与 Sec24c 缺乏相关的神经元细胞死亡得到挽救。这些数据表明 SEC24C 是发育中和成年大脑中有丝分裂后神经元中 COPII 依赖性运输的主要货物衔接蛋白,其功能至少部分与哺乳动物中的 SEC24D 重叠。