[HTML][HTML] RDA coupled with deep sequencing detects somatic SVA-retrotranspositions and mosaicism in the human brain

J Möhner, M Scheuren, V Woronzow… - Frontiers in Cell and …, 2023 - frontiersin.org
Cells of the developing human brain are affected by the progressive acquisition of genetic
and epigenetic alterations that have been reported to contribute to somatic mosaicism in the …

Primate specific retrotransposons, SVAs, in the evolution of networks that alter brain function

O Vasieva, S Cetiner, A Savage, GG Schumann… - arXiv preprint arXiv …, 2016 - arxiv.org
The hominid-specific non-LTR retrotransposon termed SINE VNTR Alu (SVA) is the
youngest of the transposable elements in the human genome. The propagation of the most …

Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia

X Zhu, B Zhou, R Pattni, K Gleason, C Tan… - bioRxiv, 2019 - biorxiv.org
Active retrotransposons in the human genome (L1, Alu and SVA elements) can create
genomic mobile element insertions (MEIs) in both germline and somatic tissue. Specific …

Potential impact of primate-specific SVA retrotransposons during the evolution of human cognitive function

O Vasieva, S Cetiner, A Savage… - Trends in …, 2017 - researchportal.murdoch.edu.au
The SVA family of hominid-specific non-LTR retrotransposon comprises the youngest group
of transposable elements in the human genome. The propagation of the most ancient SVA …

[HTML][HTML] Exploring SVA Insertion Polymorphisms in Shaping Differential Gene Expressions in the Central Nervous System

LS Hughes, A Fröhlich, AL Pfaff, VJ Bubb, JP Quinn… - Biomolecules, 2024 - mdpi.com
Transposable elements (TEs) are repetitive elements which make up around 45% of the
human genome. A class of TEs, known as SINE-VNTR-Alu (SVA), demonstrate the capacity …

The landscape of human SVA retrotransposons

C Chu, EW Lin, A Tran, H Jin, NI Ho, A Veit… - Nucleic Acids …, 2023 - academic.oup.com
Abstract SINE-VNTR-Alu (SVA) retrotransposons are evolutionarily young and still-active
transposable elements (TEs) in the human genome. Several pathogenic SVA insertions …

L1-associated genomic regions are deleted in somatic cells of the healthy human brain

JA Erwin, ACM Paquola, T Singer, I Gallina… - Nature …, 2016 - nature.com
The healthy human brain is a mosaic of varied genomes. Long interspersed element-1
(LINE-1 or L1) retrotransposition is known to create mosaicism by inserting L1 sequences …

[HTML][HTML] Aberrantly high levels of somatic LINE-1 expression and retrotransposition in human neurological disorders

DM Terry, SE Devine - Frontiers in genetics, 2020 - frontiersin.org
Retrotransposable elements (RTEs) have actively multiplied over the past 80 million years of
primate evolution, and as a consequence, such elements collectively occupy∼ 40% of the …

[PDF][PDF] Recombination of repeat elements generates somatic complexity in human genomes

G Pascarella, CC Hon, K Hashimoto, A Busch… - Cell, 2022 - cell.com
Non-allelic recombination between homologous repetitive elements contributes to evolution
and human genetic disorders. Here, we combine short-and long-DNA read sequencing of …

[HTML][HTML] Characterisation of the potential function of SVA retrotransposons to modulate gene expression patterns

AL Savage, VJ Bubb, G Breen, JP Quinn - BMC evolutionary biology, 2013 - Springer
Background Retrotransposons are a major component of the human genome constituting as
much as 45%. The hominid specific SINE-VNTR-Alus are the youngest of these elements …