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| Status |
Public on Feb 05, 2007 |
| Title |
Expression in Superior Frontal Gyrus of normal individuals or females of different ages affected by Rett syndrome |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
Rett syndrome (RTT, OMIM #312750) is a severe X-linked neurodevelopmental disorder linked to heterozygous de novo mutations in the MECP2 gene. MECP2 encodes methyl-CpG-binding protein 2 (MeCP2), which represses gene transcription by binding to 5-methylcytosine residues in symmetrically positioned CpG dinucleotides. The disorder is almost exclusively diagnosed in females, because males affected by the disease usually die perinatally due to severe encephalopathy. Direct MeCP2 target genes underlying the neuropathogenesis of RTT remain largely unknown.
To identify genes involved in the neuropathogenesis of RTT we assessed the gene expression profile of postmortem brains affected by RTT and that of age-matched normal brains using Affymetrix arrays.
Keywords: comparison between Rettsyndrome suffering and non-suffering patients
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| Overall design |
samples of the Superior Frontal Gyrus from normal and RTT patients of different ages were obtained from the Krieger Research Institute and the Harvard Brain Tissue Ressource Center. Samples from RTT-affected girls (2-4, 6 and 8 year-old) were compared with aged-matched normal brain tissue (2, 5 and 10 year-old). To ensure the quality of hybridization , labeled RNA was hybridized to a Test Array containing probe sets for all Affymetrix Expression Array controls. Background, noise, average Avg Diff, and ratio of Avg Diff values for probe sets representing the 5’ and 3’ ends of actin and GAPDH transcripts were used to determine target quality. Targets that did not meet empirically determined cut-off values within the project were remade. Quality tested samples were then hybridized to the HU_U95Av2 array. Quality-tested samples were then hybridized in the HU_U95Av2 array containing 12,625 human probes.
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| Contributor(s) |
Deng V, Matagne V, Ojeda SR |
| Citation(s) |
17309881 |
| Submission date |
Feb 05, 2007 |
| Last update date |
Dec 13, 2018 |
| Contact name |
Valerie Matagne |
| E-mail(s) |
matagnev@ohsu.edu, valerie.matagne@univ-amu.fr
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| Organization name |
OHSU
|
| Department |
Neuroscience
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| Lab |
Ojeda
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| Street address |
505 nw 185th Ave
|
| City |
Beaverton |
| State/province |
OR |
| ZIP/Postal code |
97006 |
| Country |
USA |
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| Platforms (1) |
| GPL8300 |
[HG_U95Av2] Affymetrix Human Genome U95 Version 2 Array |
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| Samples (6)
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| Relations |
| BioProject |
PRJNA99317 |
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