The Hay Wells Syndrome-Derived TAp63alphaQ540L Mutant Has Impaired Transcriptional and Cell Growth Regulatory Activity
From ArrayWiki
| PubMed ID: | 16319531 |
|---|---|
| Contact: | Raffaele A Calogero
|
| Species: | Homo sapiens (cells) |
| Platform: | Affymetrix GeneChip Human Genome U133 Plus 2.0 Array |
| Number of Samples: | 11 |
| Date Range: | 08/06/2004 - 08/06/2004 |
| Experiment Quality: | 96.9041 |
| Link to Repository: | GSE8646 |
| Original Intensity Data: | Download |
| Clean Intensity Data: | Download |
| Original PLIER Data: | Download |
| Clean PLIER Data: | Download |
| Clean CEL Files: | Download |
| Data Rank: | 
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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.
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
Type: Hay Wells syndrome, TAp63alpha, genetic alteration, pp63 Q540L
Contents |
[edit] Contributors
- Marco Lo Iacono
- Antonella Di Costanzo
- Raffaele A Calogero
- Gelsomina Mansueto
- Silvia Savozzi
- Stefania Crispi
- Alesandra Pollice
- Girolama La Mantia
- Viola Calabrò
[edit] Protocols
[edit] References
[edit] Links
GEO Accession for this experiment: GSE8646. (Public on Aug 02 2007)
PubMed abstract: 16319531
RAW data: tar file.
[edit] Analysis
 Before Normalization |
 After Normalization & Cleaning |
[edit] Samples/Quality Control
| Sample | Date Scanned | Source Link | Probe Variance Data | Artifact Mask | Quality Score |
|---|---|---|---|---|---|
| TAp63 alpha Q540L 24h induction s1 | 08/06/2004 15:18:40 | GSM214181 | 
| 
| 96.5122 3.22 % |
| TAp63 alpha Q540L 24h induction s2 | 08/06/2004 15:31:26 | GSM214184 | 
| 
| 98.0415 0.20 % |
| TAp63 alpha 24h induction s1 | 08/06/2004 12:05:38 | GSM214186 | 
| 
| 96.7229 0.27 % |
| TAp63 alpha 24h induction s2 | 08/06/2004 13:51:03 | GSM214187 | 
| 
| 98.0505 0.31 % |
| TAp63 alpha 24h induction s3 | 08/06/2004 14:05:58 | GSM214200 | 
| 
| 97.5079 0.59 % |
| TAp63 alpha Q540L 24h without induction s1 | 08/06/2004 14:18:29 | GSM214202 | 
| 
| 96.6965 2.32 % |
| TAp63 alpha Q540L 24h without induction s2 | 08/06/2004 14:31:35 | GSM214243 | 
| 
| 97.5280 0.75 % |
| TAp63 alpha Q540L 24h without induction s3 | 08/06/2004 14:46:09 | GSM214244 | 
| 
| 93.8517 0.84 % |
| TAp63 alpha 24h without induction s1 | 08/06/2004 12:31:54 | GSM214245 | 
| 
| 95.6777 2.30 % |
| TAp63 alpha 24h without induction s2 | 08/06/2004 12:19:04 | GSM214246 | 
| 
| 97.7349 0.49 % |
| TAp63 alpha 24h without induction s3 | 08/06/2004 11:52:50 | GSM214248 | 
| 
| 97.6208 0.16 % |
