|
| Status |
Public on Aug 02, 2007 |
| Title |
The Hay Wells Syndrome-Derived TAp63alphaQ540L Mutant Has Impaired Transcriptional and Cell Growth Regulatory Activity |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
|
| Summary |
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.
Keywords: Hay Wells syndrome, TAp63alpha, genetic alteration, pp63 Q540L
|
| |
|
| 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
|
| |
|
| Contributor(s) |
Lo Iacono M, Di Costanzo A, Calogero RA, Mansueto G, Savozzi S, Crispi S, Pollice A, La Mantia G, Calabrò V |
| Citation(s) |
16319531 |
| Submission date |
Aug 01, 2007 |
| Last update date |
Mar 25, 2019 |
| Contact name |
Raffaele A Calogero |
| E-mail(s) |
raffaele.calogero@unito.it
|
| Phone |
++39 0116706454
|
| Organization name |
University of Torino
|
| Department |
Molecular Biotechnology Center
|
| Lab |
Bioinformatics and Genomics Unit
|
| Street address |
Via Nizza 52
|
| City |
Torino |
| State/province |
To |
| ZIP/Postal code |
10126 |
| Country |
Italy |
| |
|
| Platforms (1) |
| GPL570 |
[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array |
|
| Samples (11)
|
| GSM214187 |
TAp63 alpha 24h induction s2 |
| GSM214200 |
TAp63 alpha 24h induction s3 |
| GSM214202 |
TAp63 alpha Q540L 24h without induction s1 |
| GSM214243 |
TAp63 alpha Q540L 24h without induction s2 |
| GSM214244 |
TAp63 alpha Q540L 24h without induction s3 |
| GSM214245 |
TAp63 alpha 24h without induction s1 |
| GSM214246 |
TAp63 alpha 24h without induction s2 |
| GSM214248 |
TAp63 alpha 24h without induction s3 |
|
| Relations |
| BioProject |
PRJNA101835 |
Less...
More...