Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes. | De Cegli et al. Genome Biology 2010 11 R64 http 2010 11 6 R64 w Genome Biology RESEARCH Open Access A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes Rossella De Cegli 1 Antonio Romito 1 2 Simona lacobacci 1 Lei Mao3 Mario Lauria1 Anthony O Fedele1 4 Joachim Klose3 Christelle Borel5 Patrick Descombes6 Stylianos E Antonarakis5 Diego di Bernardo1 Sandro Banfi1 Andrea Ballabio1 and Gilda Cobellis 1 7 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 imbalance 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 noninducing conditions. Analysis of the transcriptional response yielded results that were consistent with the perturbed gene s 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 for the clones overexpressing the Runxl gene we compared the transcriptome changes with the corresponding protein changes by mass spectroscopy analysis. Conclusions We determined that only a subset of genes produces a strong transcriptional response when overexpressed in mouse ES cells and that this effect can be predicted taking into account the basal gene expression level and the protein secondary structure. We showed that the human chromosome 21-mouse ES cell bank is an important resource which may be instrumental
