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题目:: Transcription profiling of human cell lines from Hay Wells Syndrome-Derived TAp63alphaQ540L mutant rveals impaired transcriptional and cell growth regulatory activity
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状态:: 发布时间June 16, 2008 , 更新时间 March 27, 2012 , 提交时间 Aug. 1, 2007,
物种:: Homo sapiens
摘要:: p63 mutations have been associated with several human hereditary disorders characterized by ectodermal dysplasia such as EEC syndrome, ADULT syndrome and AEC syndrome . The location and functional effects of the mutations that underlie these syndromes reveal a striking genotype-phenotype correlation. Unlike EEC and ADULT that result from missense mutations in the DNA-binding domain of p63, AEC is solely caused by missense mutations in the SAM domain of p63. We report a study on the TAp63a isoform, the first to be expressed during development of the embryonic epithelia, and on its naturally occurring Q540L mutant derived from an AEC patient. To assess the effects of the Q540L mutation, we generated stable cell lines expressing TAp63a wt, DeltaNp63 alpha or the TAp63 alpha-Q540L mutant protein and used them to systematically compare the cell growth regulatory activity of the mutant and wt p63 proteins and to generate, by microarray analysis, a comprehensive profile of differential gene expression. We found that the Q540L substitution impairs the transcriptional activity of TAp63a and causes misregulation of genes involved in the control of cell growth and epidermal differentiation. Experiment Overall Design: Three biological replicates of not induced TAp63 alpha wt, three biological replicates of induced TAp63 alpha wt, three biological replicates of not induced TAp63Q540L alpha mutant and two biological replicates of induced TAp63Q540L alpha mutant
实验种类:: transcription profiling by array
样本量:: 11
实验设计:
: 无设计数据
数据号:: E-GEOD-8646, GSE8646
数据状态:: 无法自动分析，您可以尝试手动分析数据。

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