Department of Pathological Biochemistry, Kyoto Pharmaceutical University, Kyoto 607-8414, Japan.
Genes (Basel). 2021 Oct 11;12(10):1598. doi: 10.3390/genes12101598.
Down syndrome (DS), also known as trisomy 21, is the most frequent genetic cause of intellectual disability. Although the mechanism remains unknown, delayed brain development is assumed to be involved in DS intellectual disability. Analyses with human with DS and mouse models have shown that defects in embryonic cortical neurogenesis may lead to delayed brain development. Cre-loxP-mediated chromosomal engineering has allowed the generation of a variety of mouse models carrying various partial Mmu16 segments. These mouse models are useful for determining genotype-phenotype correlations and identifying dosage-sensitive genes involved in the impaired neurogenesis. In this review, we summarize several candidate genes and pathways that have been linked to defective cortical neurogenesis in DS.
唐氏综合征（DS），也称为 21 三体，是智力障碍最常见的遗传原因。尽管其机制尚不清楚，但据推测，脑发育迟缓与 DS 智力障碍有关。对唐氏综合征患者和小鼠模型的分析表明，胚胎皮质神经发生缺陷可能导致脑发育迟缓。Cre-loxP 介导的染色体工程已经允许生成携带各种部分 Mmu16 片段的各种小鼠模型。这些小鼠模型可用于确定基因型-表型相关性，并鉴定与神经发生受损相关的剂量敏感基因。在这篇综述中，我们总结了与 DS 皮质神经发生缺陷相关的几个候选基因和途径。
