ArticleAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2016
LINE1 insertions as a genomic risk factor for schizophrenia: Preliminary evidence from an affected family.
Article in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 40 citations in OpenAlex.
- Review
- Analysis of Normalizers and Neurodevelopment-Related microRNAs in the Prefrontal Cortex and in the Sperm of SHR Rats.International journal of molecular sciences · 2025Article
- Retrotransposons and the brain: Exploring a complex relationship between mobile elements, stress, and neurological health.Neurobiology of stress · 2025Review
- Somatic Mosaicism in Brain Disorders.Annual review of pathology · 2025Review
- Evolutionarily recent retrotransposons contribute to schizophrenia.Translational psychiatry · 2023Article
- Evolutionarily recent retrotransposons contribute to schizophrenia.Research square · 2023Article
- The Role of Transposable Elements of the Human Genome in Neuronal Function and Pathology.International journal of molecular sciences · 2022Review
- Novel open reading frames in human accelerated regions and transposable elements reveal new leads to understand schizophrenia and bipolar disorder.Molecular psychiatry · 2022Article
- L1 Retrotransposons: A Potential Endogenous Regulator for Schizophrenia.Frontiers in genetics · 2022Review
- Bridging the Gap Between Environmental Adversity and Neuropsychiatric Disorders: The Role of Transposable Elements.Frontiers in genetics · 2022Review
- Article
- Early life stress during the neonatal period alters social play and Line1 during the juvenile stage of development.Scientific reports · 2021Article
- Inherited L1 Retrotransposon Insertions Associated With Risk for Schizophrenia and Bipolar Disorder.Schizophrenia bulletin open · 2021Article
- Complex epigenetic patterns in cerebellum generated after developmental exposure to trichloroethylene and/or high fat diet in autoimmune-prone mice.Environmental science. Processes & impacts · 2020Article
- Early life exposures, neurodevelopmental disorders, and transposable elements.Neurobiology of stress · 2019Review
- Non-coding genetic variation shaping mental health.Current opinion in psychology · 2019Review
- Long INterspersed nuclear Elements (LINEs) in brain and non-brain tissues of the rat.Cell and tissue research · 2018Article
- Novel Bioinformatics Approach Identifies Transcriptional Profiles of Lineage-Specific Transposable Elements at Distinct Loci in the Human Dorsolateral Prefrontal Cortex.Molecular biology and evolution · 2018Article
- Retrotransposon-induced mosaicism in the neural genome.Open biology · 2018Review
- LINE-1 retrotransposons in healthy and diseased human brain.Developmental neurobiology · 2018Review
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Authors and funding
15 authors at 5 institutions in 1 country.
Funding
Abstract
Recent studies show that human-specific LINE1s (L1HS) play a key role in the development of the central nervous system (CNS) and its disorders, and that their transpositions within the human genome are more common than previously thought. Many polymorphic L1HS, that is, present or absent across individuals, are not annotated in the current release of the genome and are customarily termed "non-reference L1s." We developed an analytical workflow to identify L1 polymorphic insertions with next-generation sequencing (NGS) using data from a family in which SZ segregates. Our workflow exploits two independent algorithms to detect non-reference L1 insertions, performs local de novo alignment of the regions harboring predicted L1 insertions and resolves the L1 subfamily designation from the de novo assembled sequence. We found 110 non-reference L1 polymorphic loci exhibiting Mendelian inheritance, the vast majority of which are already reported in dbRIP and/or euL1db, thus, confirming their status as non-reference L1 polymorphic insertions. Four previously undetected L1 polymorphic loci were confirmed by PCR amplification and direct sequencing of the insert. A large fraction of our non-reference L1s is located within the open reading frame of protein-coding genes that belong to pathways already implicated in the pathogenesis of schizophrenia. The finding of these polymorphic variants among SZ offsprings is intriguing and suggestive of putative pathogenic role. Our data show the utility of NGS to uncover L1 polymorphic insertions, a neglected type of genetic variants with the potential to influence the risk to develop schizophrenia like SNVs and CNVs. © 2016 Wiley Periodicals, Inc.
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