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Roles of Transposable Elements in the Different Layers of Gene Expression Regulation
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Endogenous Retroviruses Activity as a Molecular Signature of Neurodevelopmental Disorders

1
Department of Experimental Medicine, University of Rome Tor Vergata, 00133 Rome, Italy
2
Centre for Behavioural Sciences and Mental Health, Istituto Superiore di Sanità, 00161 Rome, Italy
3
Institute of Translational Pharmacology, National Research Council, 00133 Rome, Italy
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2019, 20(23), 6050; https://doi.org/10.3390/ijms20236050
Received: 13 October 2019 / Revised: 26 November 2019 / Accepted: 28 November 2019 / Published: 30 November 2019
(This article belongs to the Special Issue Transposable Elements)
Human endogenous retroviruses (HERVs) are genetic elements resulting from relics of ancestral infection of germline cells, now recognized as cofactors in the etiology of several complex diseases. Here we present a review of findings supporting the role of the abnormal HERVs activity in neurodevelopmental disorders. The derailment of brain development underlies numerous neuropsychiatric conditions, likely starting during prenatal life and carrying on during subsequent maturation of the brain. Autism spectrum disorders, attention deficit hyperactivity disorders, and schizophrenia are neurodevelopmental disorders that arise clinically during early childhood or adolescence, currently attributed to the interplay among genetic vulnerability, environmental risk factors, and maternal immune activation. The role of HERVs in human embryogenesis, their intrinsic responsiveness to external stimuli, and the interaction with the immune system support the involvement of HERVs in the derailed neurodevelopmental process. Although definitive proofs that HERVs are involved in neurobehavioral alterations are still lacking, both preclinical models and human studies indicate that the abnormal expression of ERVs could represent a neurodevelopmental disorders-associated biological trait in affected individuals and their parents. View Full-Text
Keywords: endogenous retroviruses (ERVs); autism; neurodevelopmental disorders; maternal immune activation; ASD animal model endogenous retroviruses (ERVs); autism; neurodevelopmental disorders; maternal immune activation; ASD animal model
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Balestrieri, E.; Matteucci, C.; Cipriani, C.; Grelli, S.; Ricceri, L.; Calamandrei, G.; Sinibaldi Vallebona, P. Endogenous Retroviruses Activity as a Molecular Signature of Neurodevelopmental Disorders. Int. J. Mol. Sci. 2019, 20, 6050.

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