Institute of Developmental Genetics, Helmholtz Center Munich - National Research Center for Environmental Health, Ingolstädter Landstrasse 1, 85764, Neuherberg, Germany.
Mamm Genome. 2013 Oct;24(9-10):333-48. doi: 10.1007/s00335-013-9478-7. Epub 2013 Oct 6.
βB2-crystallin (gene symbol: Crybb2/CRYBB2) was first described as a structural protein of the ocular lens. This gene, however, is also expressed in several regions of the mammalian brain, although its function in this organ remains entirely unknown. To unravel some aspects of its function in the brain, we combined behavioral, neuroanatomical, and physiological analyses in a novel Crybb2 mouse mutant, O377. Behavioral tests with male O377 mutants revealed altered sensorimotor gating, suggesting modified neuronal functions. Since these mouse mutants also displayed reduced hippocampal size, we concentrated further investigations on the hippocampus. Free intracellular Ca(2+) levels were increased and apoptosis was enhanced in the hippocampus of O377 mutants. Moreover, the expression of the gene encoding calpain 3 (gene symbol Capn3) was elevated and the expression of genes coding for the NMDA receptor subunits was downregulated. Additionally, the number of parvalbumin-positive interneurons was decreased in the hippocampus but not in the cortex of the mutants. High-speed voltage-sensitive dye imaging demonstrated an increased translation of input-to-output neuronal activity in the dentate gyrus of this Crybb2 mutant. These results point to an important function of βB2-crystallin in the hippocampal network. They indicate pleiotropic effects of mutations in the Crybb2 gene, which previously had been considered to be specific to the ocular lens. Moreover, our results are the first to demonstrate that βB2-crystallin has a role in hippocampal function and behavioral phenotypes. This model can now be further explored by future experiments.
βB2-晶体蛋白(基因符号:Crybb2/CRYBB2)最初被描述为眼睛晶状体的结构蛋白。然而,该基因也在哺乳动物大脑的几个区域表达,尽管其在该器官中的功能仍完全未知。为了揭示其在大脑中的某些功能,我们在一种新型的 Crybb2 小鼠突变体 O377 中结合了行为、神经解剖和生理分析。雄性 O377 突变体的行为测试显示出感觉运动门控改变,表明神经元功能发生改变。由于这些小鼠突变体还表现出海马体体积减小,我们集中进一步研究海马体。O377 突变体的海马体内游离细胞内 Ca(2+)水平升高,细胞凋亡增强。此外,编码钙蛋白酶 3(基因符号 Capn3)的基因表达升高,编码 NMDA 受体亚基的基因表达下调。此外,突变体海马体中的 parvalbumin 阳性中间神经元数量减少,但皮质中没有减少。高速电压敏感染料成像显示,这种 Crybb2 突变体的齿状回中输入到输出神经元活动的翻译增加。这些结果表明βB2-晶体蛋白在海马网络中具有重要功能。它们表明 Crybb2 基因突变具有多效性,以前认为该基因仅特异性地存在于眼睛晶状体中。此外,我们的结果首次表明βB2-晶体蛋白在海马体功能和行为表型中具有作用。这个模型现在可以通过未来的实验进一步探索。