Department of Neurology, University of Utah, 175 North Medical Drive East, 5th Floor, Salt Lake City, UT 84132, USA.
Neuron. 2021 Jan 20;109(2):191-192. doi: 10.1016/j.neuron.2020.12.021.
In this issue of Neuron, Chai et al. (2021) analyze several families with neurodegeneration and marked pontocerebellar hypoplasia and microcephaly and identify recessive (bi-allelic) mutations in peptidyl-prolyl isomerase-like 1 (PPIL1) and pre-RNA-processing-17 (PPR17). PPIL1 patient mutation knockin mice develop neuronal apoptosis. Loss of either protein affects splicing predominantly involving GC-rich and short introns.
在本期《神经元》杂志中，柴等人（2021）分析了几个具有神经退行性变和明显桥脑小脑发育不良和小头畸形的家族，并鉴定出肽基脯氨酰异构酶样 1（PPIL1）和前 RNA 加工 17（PPR17）的隐性（双等位基因）突变。PPIL1 患者突变敲入小鼠发生神经元凋亡。两种蛋白的缺失主要影响富含 GC 和短内含子的剪接。
