Patil N, Cox D R, Bhat D, Faham M, Myers R M, Peterson A S
Department of Genetics, Stanford University Medical School, California 94305-5120, USA.
Nat Genet. 1995 Oct;11(2):126-9. doi: 10.1038/ng1095-126.
Early events in neuronal differentiation are generally considered to be regulated by factors independent of alterations in membrane permeability. Weaver mice harbour a mutation that blocks neuronal differentiation just after cessation of cell division, prior to cell migration and synaptogenesis. Cerebellar granule cells in homozygous weaver mice fail to differentiate, either because intrinsic cues are absent or because the granule cells are unable to respond to those cues. We now report that weaver mice have a missense mutation in a gene encoding a G-protein coupled inward rectifier potassium channel. The mutation alters the putative ion-permeable, pore-forming domain of the protein, suggesting that granule cell differentiation is regulated by changes in membrane permeability.
神经元分化的早期事件通常被认为是由独立于膜通透性改变的因素调控的。韦弗小鼠携带一种突变，该突变在细胞分裂停止后、细胞迁移和突触形成之前阻断神经元分化。纯合韦弗小鼠的小脑颗粒细胞无法分化，要么是因为缺乏内在信号，要么是因为颗粒细胞无法对这些信号作出反应。我们现在报告，韦弗小鼠在编码G蛋白偶联内向整流钾通道的基因中存在一个错义突变。该突变改变了该蛋白假定的离子通透、形成孔道的结构域，这表明颗粒细胞的分化受膜通透性变化的调控。
