a mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes一只老鼠胚胎干细胞银行诱导人类21号染色体基因的超表达.pdfVIP

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a mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes一只老鼠胚胎干细胞银行诱导人类21号染色体基因的超表达.pdf

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a mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes一只老鼠胚胎干细胞银行诱导人类21号染色体基因的超表达

De Cegli et al. Genome Biology 2010, 11:R64 /2010/11/6/R64 R E S E A R C H Open Access Research A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes †1 †1,2 1 3 1 1,4 Rossella De Cegli , Antonio Romito , Simona Iacobacci , Lei Mao , Mario Lauria , Anthony O Fedele , 3 5 6 5 1 1 Joachim Klose , Christelle Borel , Patrick Descombes , Stylianos E Antonarakis , Diego di Bernardo , Sandro Banfi , 1 1,7 Andrea Ballabio and Gilda Cobellis* Abstract Background: Dosage imbalance is responsible for several genetic diseases, among which Down syndrome is caused by the trisomy of human chromosome 21. Results: To elucidate the extent to which the dosage imbala nce of specific human chromosome 21 genes perturb distinct molecular pathways, we developed the first mouse embryonic stem (ES) cell bank of human chromosome 21 genes. The human chromosome 21-mouse ES cell bank includes, in triplicate clones, 32 human chromosome 21 genes, which can be overexpressed in an inducible manner. Each clone was transcriptionally profiled in inducing versus non- inducing conditions. Analysis of the transcriptional response yielded results that were consistent with the perturbed genes known function. Comparison between mouse ES cells containing the whole human chromosome 21 (trisomic mouse ES cells) and mouse ES cells overexpressing single human chromosome 21 genes allowed us to evaluate the contribution of single genes to the trisomic mouse ES cell transcriptome. In addition, fo