@article {308977,
	title = {Increased l1 retrotransposition in the neuronal genome in schizophrenia.},
	journal = {Neuron},
	volume = {81},
	year = {2014},
	note = {http://www.sciencedirect.com/science/article/pii/S0896627313010052},
	month = {2014 Jan 22},
	pages = {306-13},
	abstract = {<p>Recent studies indicate that long interspersed nuclear element-1 (L1) are mobilized in the genome of human neural progenitor cells and enhanced in Rett syndrome and ataxia telangiectasia. However, whether aberrant L1 retrotransposition occurs in mental disorders is unknown. Here, we report high L1 copy number in schizophrenia. Increased L1 was demonstrated in neurons from prefrontal cortex of patients and in induced pluripotent stem (iPS) cell-derived neurons containing 22q11 deletions. Whole-genome sequencing revealed brain-specific L1 insertion in patients localized preferentially to synapse- and schizophrenia-related genes. To study the mechanism of L1 transposition, we examined perinatal environmental risk factors for schizophrenia in animal models and observed an increased L1 copy number after immune activation by poly-I:C or epidermal growth factor. These findings suggest that hyperactive retrotransposition of L1 in neurons triggered by environmental and/or genetic risk factors may contribute to the susceptibility and pathophysiology of schizophrenia.</p>},
	keywords = {22q11 Deletion Syndrome, Adult, Animals, Animals, Newborn, Cells, Cultured, Disease Models, Animal, DNA Copy Number Variations, DNA Transposable Elements, Endogenous Retroviruses, Endonucleases, Epidermal Growth Factor, Female, Fibroblasts, Gene Ontology, Genetic Predisposition to Disease, Genome, Humans, Macaca fascicularis, Male, Mice, Mice, Inbred C57BL, Middle Aged, Neurons, Phosphopyruvate Hydratase, Pluripotent Stem Cells, Poly I-C, Postmortem Changes, Prefrontal Cortex, Pregnancy, Pregnancy Proteins, Rett Syndrome, Risk Factors, RNA-Directed DNA Polymerase, Schizophrenia, Transfection},
	issn = {1097-4199},
	doi = {10.1016/j.neuron.2013.10.053},
	url = {http://www.ncbi.nlm.nih.gov/pubmed/24389010},
	author = {Bundo, Miki and Toyoshima, Manabu and Okada, Yohei and Akamatsu, Wado and Ueda, Junko and Nemoto-Miyauchi, Taeko and Sunaga, Fumiko and Toritsuka, Michihiro and Ikawa, Daisuke and Kakita, Akiyoshi and Kato, Motoichiro and Kasai, Kiyoto and Kishimoto, Toshifumi and Nawa, Hiroyuki and Okano, Hideyuki and Yoshikawa, Takeo and Kato, Tadafumi and Iwamoto, Kazuya}
}
