Homo sapiens
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA126459 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description: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.
2010-11-11 | GSE21037 | GEO
Project description: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. 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.
2010-11-11 | E-GEOD-21037 | biostudies-arrayexpress
Project description:Neurodegeneration involves entangled processes of neuronal autonomous and non-neuronal autonomous death, which leads to a collapse in the integrity of the neural network and causes behavioral symptoms. Here, we demonstrate that aberrant cell cycle reentry (CCR) is prominent in mature neurons and the replication fork in S-phase neurons acts as a target site for retrotransposition by long interspersed nuclear element-1 (L1) in neurodegeneration-prone 5xFAD mice. Interestingly, the morbid susceptibility of S-phase neurons to cell death has been attributed to enhanced L1 retrotransposition and DNA repair deficiency. Furthermore, deficit in sirtuin 6 expression and estrogen/prolactin signaling promote stochastic L1 retrotransposition and impair Brca1 expression in S-phase neurons, respectively. Importantly, L1 retrotransposition-related neuronal malfunction is correlated with conventional AD pathology. Current data suggest that the coincidence of enhanced L1 retrotransposition and DNA repair deficiency causes synthetic lethality in S-phase neurons, providing a previously unknown pathogenic mechanism of neurodegeneration.
2026-07-31 | GSE300383 | GEO
Project description:Somatic L1 Retrotransposition of Colorectal Tumors
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Project description:Widespread somatic L1 retrotransposition occurs early during gastrointestinal cancer evolution
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Project description:L1 Retrotransposition in Tissues of Rett Patients and Healthy Individuals
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Project description: Not available
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Project description:RNA extracted at 240min. Samples are rRNA depleted. Expression measurement of Homo sapiens genes.
2019-07-31 | GSE114179 | GEO
Project description: Not available
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Project description:Gene expression profiling of immortalized human mesenchymal stem cells with hTERT/E6/E7 transfected MSCs. hTERT may change gene expression in MSCs. Goal was to determine the gene expressions of immortalized MSCs.
2010-09-25 | GSE24338 | GEO