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27-06-2022 | Original Paper

Whole Genome Analysis of Dizygotic Twins With Autism Reveals Prevalent Transposon Insertion Within Neuronal Regulatory Elements: Potential Implications for Disease Etiology and Clinical Assessment

Auteurs: Kaan Okay, Pelin Ünal Varış, Süha Miral, Athanasia Pavlopoulou, Yavuz Oktay, Gökhan Karakülah

Gepubliceerd in: Journal of Autism and Developmental Disorders

Abstract

Transposable elements (TEs) have been implicated in autism spectrum disorder (ASD). However, our understanding of their roles is far from complete. Herein, we explored de novo TE insertions (dnTEIs) and de novo variants (DNVs) across the genomes of dizygotic twins with ASD and their parents. The neuronal regulatory elements had a tendency to harbor dnTEIs that were shared between twins, but ASD-risk genes had dnTEIs that were unique to each twin. The dnTEIs were 4.6-fold enriched in enhancers that are active in embryonic stem cell (ESC)-neurons (p < 0.001), but DNVs were 1.5-fold enriched in active enhancers of astrocytes (p = 0.0051). Our findings suggest that dnTEIs and DNVs play a role in ASD etiology by disrupting enhancers of neurons and astrocytes.

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Titel: Whole Genome Analysis of Dizygotic Twins With Autism Reveals Prevalent Transposon Insertion Within Neuronal Regulatory Elements: Potential Implications for Disease Etiology and Clinical Assessment
Auteurs: Kaan Okay
Pelin Ünal Varış
Süha Miral
Athanasia Pavlopoulou
Yavuz Oktay
Gökhan Karakülah
Publicatiedatum: 27-06-2022
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-022-05636-6

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