唐氏综合征相关发育性认知障碍的小鼠模型。
Mouse models for Down syndrome-associated developmental cognitive disabilities.
机构信息
Children's Guild Foundation Down Syndrome Research Program and Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, NY 14263, USA.
出版信息
Dev Neurosci. 2011;33(5):404-13. doi: 10.1159/000329422. Epub 2011 Aug 25.
Abstract
Down syndrome (DS) is mainly caused by the presence of an extra copy of human chromosome 21 (Hsa21) and is a leading genetic cause for developmental cognitive disabilities in humans. The mouse is a premier model organism for DS because the regions on Hsa21 are syntenically conserved with three regions in the mouse genome, which are located on mouse chromosome 10 (Mmu10), Mmu16 and Mmu17. With the advance of chromosomal manipulation technologies, new mouse mutants have been generated to mimic DS at both the genotypic and phenotypic levels. Further mouse-based molecular genetic studies in the future may lead to the unraveling of the mechanisms underlying DS-associated developmental cognitive disabilities, which would lay the groundwork for developing effective treatments for this phenotypic manifestation. In this review, we will discuss recent progress and future challenges in modeling DS-associated developmental cognitive disability in mice with an emphasis on hippocampus-related phenotypes.
摘要
唐氏综合征（DS）主要是由于人类 21 号染色体（Hsa21）的额外拷贝引起的，是人类发育性认知障碍的主要遗传原因。老鼠是 DS 的主要模式生物，因为 Hsa21 上的区域与小鼠基因组上的三个区域在基因上是保守的，这三个区域位于小鼠染色体 10（Mmu10）、Mmu16 和 Mmu17 上。随着染色体操作技术的进步，已经产生了新的小鼠突变体，以在基因型和表型水平上模拟 DS。未来基于小鼠的分子遗传学研究可能会揭示与 DS 相关的发育性认知障碍的机制，这将为开发针对这种表型表现的有效治疗方法奠定基础。在这篇综述中，我们将讨论在小鼠中模拟与 DS 相关的发育性认知障碍的最新进展和未来挑战，重点讨论与海马体相关的表型。
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