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| Status |
Public on Oct 28, 2014 |
| Title |
Molecular Mechanisms Regulating the Defects in Fragile X Syndrome Neurons Derived from Human Pluripotent Stem Cells |
| Platform organisms |
Homo sapiens; synthetic construct |
| Sample organism |
Homo sapiens |
| Experiment type |
Non-coding RNA profiling by array
Expression profiling by array
|
| Summary |
Fragile X syndrome (FXS) is caused by the absence of the fragile X mental retardation protein (FMRP). We have previously generated FXS-induced pluripotent stem cells (iPSCs) from patients' fibroblasts. In this study, we aimed at unraveling the molecular phenotype of the disease. Our data revealed aberrant regulation of neural differentiation and axon guidance genes in FXS-derived neurons, which are regulated by the RE-1 silencing transcription factor (REST). Moreover, we found REST to be elevated in FXS-derived neurons. As FMRP is involved in the microRNA (miRNA) pathway we employed microRNA-array analyses and uncovered several miRNAs dysregulated in FXS-derived neurons. We found hsa-mir-382 to be down-regulated in FXS-derived neurons, and introduction of mimic-mir-382 into these neurons was sufficient to repress REST and up-regulate its axon guidance target genes. Our data link, FMRP and REST, through the miRNA pathway, and show a new aspect in the development of FXS.
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| Overall design |
Affimetrix miRNA array of two WT and two fragile X syndrome derived neurons
Gene expression analysis was performed on a total of 14 human cell lines, including WT and FXS fibroblasts, iPSCs and Neurons
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| Contributor(s) |
Halevy T, Czech C, Benvenisty N |
| Citation(s) |
25483109 |
| Submission date |
Oct 27, 2014 |
| Last update date |
Jul 26, 2018 |
| Contact name |
Nissim Benvenisty |
| Organization name |
Hebrew University
|
| Department |
Genetics
|
| Lab |
Stem Cell Unit
|
| Street address |
Edmond Safra Campus Givat Ram
|
| City |
Jerusalem |
| State/province |
Israel |
| ZIP/Postal code |
91905 |
| Country |
Israel |
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| Platforms (2) |
| GPL6244 |
[HuGene-1_0-st] Affymetrix Human Gene 1.0 ST Array [transcript (gene) version] |
| GPL8786 |
[miRNA-1] Affymetrix Multispecies miRNA-1 Array |
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| Samples (18)
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| Relations |
| BioProject |
PRJNA264951 |
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