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

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

doi:10.1007/s10803-022-05636-6

J Autism Dev Disord

2022

DOI: 10.1007/s10803-022-05636-6

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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

Pelin Ünal Varış

Süha Miral

et al.

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2024

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Retrotransposons in embryogenesis and neurodevelopment

Talley,

Longworth

2024

Biochemical Society Transactions

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Retrotransposable elements (RTEs) are genetic elements that can replicate and insert new copies into different genomic locations. RTEs have long been identified as ‘parasitic genes', as their mobilization can cause mutations, DNA damage, and inflammation. Interestingly, high levels of retrotransposon activation are observed in early embryogenesis and neurodevelopment, suggesting that RTEs may possess functional roles during these stages of development. Recent studies demonstrate that RTEs can function as transcriptional regulatory elements through mechanisms such as chromatin organization and noncoding RNAs. It is clear, however, that RTE expression and activity must be restrained at some level during development, since overactivation of RTEs during neurodevelopment is associated with several developmental disorders. Further investigation is needed to understand the importance of RTE expression and activity during neurodevelopment and the balance between RTE-regulated development and RTE-mediated pathogenesis.

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Retrotransposons in embryogenesis and neurodevelopment

Talley,

Longworth

2024

Biochemical Society Transactions

View full text Add to dashboard Cite

show abstract

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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

Cited by 1 publication

References 81 publications

Retrotransposons in embryogenesis and neurodevelopment

Retrotransposons in embryogenesis and neurodevelopment

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