Evolutionarily recent retrotransposons contribute to schizophrenia

Transposable elements (TEs) are mobile genetic elements that constitute half of the human genome. Recent studies suggest that polymorphic non-reference TEs (nrTEs) may contribute to cognitive diseases, such as schizophrenia, through a cis-regulatory effect. The aim of this work is to identify sets o...

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Bibliographic Details
Published in:Translational psychiatry 2023-05, Vol.13 (1), p.181-181, Article 181
Main Authors: Modenini, Giorgia, Abondio, Paolo, Guffanti, Guia, Boattini, Alessio, Macciardi, Fabio
Format: Article
Language:English
Subjects:
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Behavioral Sciences
Biological Psychology
Brain
Genomes
Haplotypes
Humans
Medicine
Medicine & Public Health
Neurosciences
Pharmacotherapy
Psychiatry
Quantitative Trait Loci
Retroelements - genetics
Schizophrenia
Schizophrenia - genetics
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Summary:Transposable elements (TEs) are mobile genetic elements that constitute half of the human genome. Recent studies suggest that polymorphic non-reference TEs (nrTEs) may contribute to cognitive diseases, such as schizophrenia, through a cis-regulatory effect. The aim of this work is to identify sets of nrTEs putatively linked to an increased risk of developing schizophrenia. To do so, we inspected the nrTE content of genomes from the dorsolateral prefrontal cortex of schizophrenic and control individuals and identified 38 nrTEs that possibly contribute to the emergence of this psychiatric disorder, two of them further confirmed with haplotype-based methods. We then performed in silico functional inferences and found that 9 of the 38 nrTEs act as expression/alternative splicing quantitative trait loci (eQTLs/sQTLs) in the brain, suggesting a possible role in shaping the human cognitive genome structure. To our knowledge, this is the first attempt at identifying polymorphic nrTEs that can contribute to the functionality of the brain. Finally, we suggest that a neurodevelopmental genetic mechanism, which involves evolutionarily young nrTEs, can be key to understanding the ethio-pathogenesis of this complex disorder.
ISSN:2158-3188
2158-3188
DOI:10.1038/s41398-023-02472-9