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首页> 外文期刊>Brain research >Expression and localization of Cayman ataxia-related protein, Caytaxin, is regulated in a developmental- and spatial-dependent manner.
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Expression and localization of Cayman ataxia-related protein, Caytaxin, is regulated in a developmental- and spatial-dependent manner.

机译：开曼共济失调相关蛋白，Caytaxin的表达和定位以发育和空间依赖性的方式进行调节。

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摘要

Mutation of the gene encoding Caytaxin causes human Cayman ataxia by interfering with normal splicing and, in mutant rodents, by reducing normal transcription, which leads to ataxia, dystonia, and mental retardation: These observations suggest that Caytaxin may be crucial for higher brain functions such as motor learning. We generated antibodies against mouse Caytaxin. Interestingly, we found that the expression of Caytaxin is regulated during brain development while quantitative real time RT-PCR indicated that the mRNA level did not change between postnatal days 7 (P7) and P14 in the cerebellum and hippocampus, implying that the expression of Caytaxin may be controlled by a post-transcriptional mechanism. Immunostaining analyses demonstrated that Caytaxin was localized in many brain areas including the cerebellum and hippocampus. Furthermore, Caytaxin was localized to the presynaptic cytosol by the subcellular fractionation of mouse brain and an observation that was confirmed by co-localization studies with synapsin I and VGLUT1. The above data, disease phenotypes, and mutant animals suggest that Caytaxin may be essential for synaptic function. Thus, identifying the role of Caytaxin in synapse maturation may lead to the development of therapeutic interventions for cerebellar ataxia as well as mental disorders.
机译：编码辣椒素的基因突变会干扰正常的剪接，从而导致人类开曼共济失调，而在突变的啮齿动物中，通过减少正常转录，会导致共济失调，肌张力障碍和智力低下：这些观察结果表明，辣椒素对提高大脑的功能至关重要，例如作为运动学习。我们生成了针对小鼠Caytaxin的抗体。有趣的是，我们发现在大脑发育过程中，Caytaxin的表达受到调节，而实时定量定量RT-PCR表明，出生后第7天（P7）和P14之间小脑和海马中的mRNA水平没有变化，这表明Caytaxin的表达可以由转录后机制控制。免疫染色分析表明，Cathtaxin分布于许多大脑区域，包括小脑和海马体。此外，通过小鼠脑的亚细胞分馏，并通过突触素I和VGLUT1的共定位研究证实了这一事实，从而将Caytaxin定位于突触前细胞质中。上述数据，疾病表型和突变动物表明，Cytaxin可能对突触功能至关重要。因此，确定叶绿素在突触成熟中的作用可能导致小脑共济失调以及精神障碍的治疗性干预措施的发展。

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