Mutations on a novel brain-specific isoform of PGC1α leads to extensive upregulation of neurotransmitter-related genes and sexually dimorphic motor deficits in mice. Mutations on a novel brain-specific isoform of PGC1α leads to extensive upregulation of neurotransmitter-related genes and sexually dimorphic motor deficits in mice

We identified a new brain-specific isoform of PGC1 α that is the main isoform in neurons. Mutation of this gene leads to a sex dimorphic gene expression program in the female cerebellum and to alter motor coordination Overall design: We utilized microarrays to establish the differential gene expression program in the cerebellum or rest of brain (whole brain minus cerebellum) in WT and mutant littermates; males and females were separately profiled.

我们成功鉴定出一种全新的脑特异性过氧化物酶体增殖物激活受体γ辅激活因子1α（PGC1α）同工型，该同工型为神经元内的主要同工型形式。该基因发生突变后，会在雌性小脑中引发具有性别二态性的基因表达程序，并导致运动协调功能异常。实验设计：我们利用微阵列技术，对野生型（Wild Type, WT）与突变型同窝仔鼠的小脑及脑其余区域（全脑去除小脑后剩余组织）内的差异基因表达程序进行分析；实验分别对雄性与雌性个体开展了表达谱检测。