The first description of the Reeler mutation in mouse dates to more than fifty years ago, and later, its causative gene (reln) was discovered in mouse, and its human orthologue (RELN) was demonstrated to be causative of lissencephaly 2 (LIS2) and about 20% of the cases of autosomal-dominant lateral temporal epilepsy (ADLTE). In both human and mice, the gene encodes for a glycoprotein referred to as reelin (Reln) that plays a primary function in neuronal migration during development and synaptic stabilization in adulthood. Besides LIS2 and ADLTE, RELN and/or other genes coding for the proteins of the Reln intracellular cascade have been associated substantially to other conditions such as spinocerebellar ataxia type 7 and 37, VLDLR-associated cerebellar hypoplasia, PAFAH1B1-associated lissencephaly, autism, and schizophrenia. According to their modalities of inheritances and with significant differences among each other, these neuropsychiatric disorders can be modeled in the homozygous (reln-/-) or heterozygous (reln+/-) Reeler mouse. The worth of these mice as translational models is discussed, with focus on their construct and face validity. Description of face validity, i.e., the resemblance of phenotypes between the two species, centers onto the histological, neurochemical, and functional observations in the cerebral cortex, hippocampus, and cerebellum of Reeler mice and their human counterparts.

译文

:对Reeler突变的最早描述可追溯到50多年前,后来在小鼠中发现了其致病基因(reln),并证明其人类直系同源基因(RELN)是lissencephaly 2(LIS2)的致病原因。约有20%的常染色体显性外侧颞叶癫痫(ADLTE)。在人类和小鼠中,该基因编码一种称为reelin(Reln)的糖蛋白,该蛋白在发育过程中的神经元迁移和成年期的突触稳定中起主要作用。除了LIS2和ADLTE外,RELN和/或其他编码Reln细胞内级联蛋白的基因已与其他疾病(例如7型和37型小脑共济失调,与VLDLR相关的小脑发育不全,PAFAH1B1相关的小脑,自闭症和精神分裂症。根据它们的遗传方式以及彼此之间的显着差异,可以在纯合子(reln-/-)或杂合子(reln /-)Reeler小鼠中模拟这些神经精神疾病。讨论了这些小鼠作为转化模型的价值,重点是它们的结构和面部有效性。面部有效性的描述,即两个物种之间的表型相似,集中于Reeler小鼠及其人类对应物的大脑皮层,海马和小脑的组织学,神经化学和功能观察。

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