Global up-regulation of chromosome 21 gene expression in the developing Down syndrome brain
Global up-regulation of chromosome 21 gene expression in the developing Down syndrome brain
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DOI：
10.1016/s0888-7543(03)00035-1
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发表时间：
2003-05-01
期刊：
影响因子：
4.4
通讯作者：
Pevsner, J
中科院分区：
文献类型：
--
作者：
Mao, R;Zielke, CL;Pevsner, J
唐氏综合征（DS）是由人类21号染色体的全部或部分三重化引起的。据推测，神经系统和其他症状是由21号染色体上的基因过度表达引起的，但这一假设尚未在染色体范围内进行评估。在这里，我们表明，定位于21号染色体的基因的表达是全球上调人类胎儿三体21例，无论是在大脑皮层提取物和从大脑皮层培养的星形胶质细胞系。这种基因表达的异常调节是21号染色体特有的。我们的数据描述的转录变化是特定于许多基因分配到21号染色体，并不直接测量DS的临床表型。然而，这些基因表达变化最终可能与DS的表型变异性有关。(C)2003 Elsevier Science（美国）。All rights reserved.
Down syndrome (DS) results from complete or partial triplication of human chromosome 21. It is assumed that the neurological and other symptoms are caused by the overexpression of genes on chromosome 21, but this hypothesis has not yet been assessed on a chromosome-wide basis. Here we show that expression of genes localized to chromosome 21 is globally up-regulated in human fetal trisomy 21 cases, both in cerebral cortex extracts and in astrocytic cell lines cultured from cerebral cortex. This abnormal regulation of gene expression is specific to chromosome 21. Our data describe transcriptional changes that are specific to many genes assigned to chromosome 21 and do not directly measure the clinical phenotype of DS. However, it is possible that these gene expression changes ultimately relate to the phenotypic variability of DS. (C) 2003 Elsevier Science (USA). All rights reserved.