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Auteur Pelin Ünal VAR?? |
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Whole Genome Analysis of Dizygotic Twins With Autism Reveals Prevalent Transposon Insertion Within Neuronal Regulatory Elements: Potential Implications for Disease Etiology and Clinical Assessment / Kaan OKAY in Journal of Autism and Developmental Disorders, 53-3 (March 2023)
[article]
Titre : Whole Genome Analysis of Dizygotic Twins With Autism Reveals Prevalent Transposon Insertion Within Neuronal Regulatory Elements: Potential Implications for Disease Etiology and Clinical Assessment Type de document : Texte imprimé et/ou numérique Auteurs : Kaan OKAY, Auteur ; Pelin Ünal VAR??, Auteur ; Suha MIRAL, Auteur ; Athanasia PAVLOPOULOU, Auteur ; Yavuz OKTAY, Auteur ; Gökhan KARAKÜLAH, Auteur Article en page(s) : p.1091-1106 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : 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 (p0.001), 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. En ligne : https://doi.org/10.1007/s10803-022-05636-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=500
in Journal of Autism and Developmental Disorders > 53-3 (March 2023) . - p.1091-1106[article] Whole Genome Analysis of Dizygotic Twins With Autism Reveals Prevalent Transposon Insertion Within Neuronal Regulatory Elements: Potential Implications for Disease Etiology and Clinical Assessment [Texte imprimé et/ou numérique] / Kaan OKAY, Auteur ; Pelin Ünal VAR??, Auteur ; Suha MIRAL, Auteur ; Athanasia PAVLOPOULOU, Auteur ; Yavuz OKTAY, Auteur ; Gökhan KARAKÜLAH, Auteur . - p.1091-1106.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 53-3 (March 2023) . - p.1091-1106
Index. décimale : PER Périodiques Résumé : 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 (p0.001), 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. En ligne : https://doi.org/10.1007/s10803-022-05636-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=500