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

Autor/inn/en	Okay, Kaan; Varis, Pelin Ünal; Miral, Süha; Pavlopoulou, Athanasia; Oktay, Yavuz; Karakülah, Gökhan
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
Quelle	In: Journal of Autism and Developmental Disorders, 53 (2023) 3, S.1091-1106 (16 Seiten) PDF als Volltext Verfügbarkeit
Zusatzinformation	ORCID (Karakülah, Gökhan)
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	0162-3257
DOI	10.1007/s10803-022-05636-6
Schlagwörter	Genetics; Twins; Autism Spectrum Disorders; Etiology; Cytology + Suchen Sie Ihr Suchwort? Humangenetik; Twin; Zwilling; Autism; Autismus; Ätiologie; Zytologie
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. (As Provided).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2024/1/01