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| Status |
Public on Nov 11, 2010 |
| Title |
L1 retrotransposition in neurons is mediated by MeCP2 |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
L1 retrotransposons are active elements in the genome, capable of mobilization in neuronal progenitor cells. Previously, we showed that chromatin remodeling during neuronal differentiation allows for a transient stimulation of L1 transcription. The activity of L1 retrotransposons during brain development can impact gene expression and neuronal function. Here we show that L1 neuronal retrotransposition in rodents is increased in the absence of MeCP2, a protein involved in global methylation and human neurodevelopmental diseases. Using neuronal progenitor cells derived from human induced pluripotent stem cells and human tissues, we revealed that Rett syndrome patients, with MeCP2 mutations, have increased susceptibility for L1 retrotransposition. Our data demonstrate that disease-related genetic mutations can influence the frequency of neuronal L1 retrotransposition, thereby increasing brain-specific genetic mosaicism.
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| Overall design |
Genetic reprogramming of somatic cells to a pluripotent state (induced pluripotent stem cells, or iPSCs) by over-expression of specific genes has been accomplished for fibroblasts derived from controls and Rett syndrome patients. Different clones from each were compared to respective original fibroblasts and a human embryonic stem cell line.
Gene expression profiles measured using human genome Affymetrix Gene Chip arrays were grouped by hierarchical clustering, and correlation coefficients were computed for all pair-wise comparisons.
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| Contributor(s) |
Muotri A, Marchetto M, Yeo G, Gage F |
| Citation(s) |
21074045 |
| Submission date |
Mar 23, 2010 |
| Last update date |
Jul 26, 2018 |
| Contact name |
Alysson R Muotri |
| E-mail(s) |
muotri@ucsd.edu
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| Phone |
858-534-9320
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| Fax |
858-534-9320
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| Organization name |
University of California San Diego
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| Department |
Pediatrics/CMM
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| Street address |
9500 Gilman Drive
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| City |
La Jolla |
| State/province |
CA |
| ZIP/Postal code |
92093-0695 |
| Country |
USA |
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| Platforms (1) |
| GPL6244 |
[HuGene-1_0-st] Affymetrix Human Gene 1.0 ST Array [transcript (gene) version] |
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| Samples (21)
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| GSM525409 |
iPSC-RTT clone 15, rep1 |
| GSM525410 |
iPSC-RTT clone 15, rep2 |
| GSM525411 |
iPSC-RTT clone 15, rep3 |
| GSM525412 |
iPSC-RTT clone 18, rep1 |
| GSM525413 |
iPSC-RTT clone 18, rep2 |
| GSM525414 |
iPSC-RTT clone 18, rep3 |
| GSM525415 |
WT fibroblast, rep1 |
| GSM525416 |
WT fibroblast, rep2 |
| GSM525417 |
WT fibroblast, rep3 |
| GSM525418 |
iPSC-WT clone 1, rep1 |
| GSM525419 |
iPSC-WT clone 1, rep2 |
| GSM525420 |
iPSC-WT clone 1, rep3 |
| GSM525421 |
iPSC-WT clone 2, rep1 |
| GSM525422 |
iPSC-WT clone 2, rep2 |
| GSM525423 |
iPSC-WT clone 2, rep3 |
| GSM525424 |
HUES6 hESC, rep1 |
| GSM525425 |
HUES6 hESC, rep2 |
| GSM525426 |
HUES6 hESC, rep3 |
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| Relations |
| BioProject |
PRJNA126459 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE21037_RAW.tar |
80.2 Mb |
(http)(custom) |
TAR (of CEL) |
| Processed data included within Sample table |
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