[PDF][PDF] LINE-1: creators of neuronal diversity

CA Thomas, AR Muotri - Frontiers in Bioscience-Elite, 2012 - article.imrpress.com
Long interspersed nucleotide element 1 (L1) is a family of non-LTR retrotransposons that
can replicate and reintegrate into the host genome. L1s have considerably influenced …

SVA retrotransposons as modulators of gene expression

JP Quinn, VJ Bubb - Mobile genetic elements, 2014 - Taylor & Francis
Endogenous mobile genetic elements can give rise to de novo germline or somatic
mutations that can have dramatic consequences for genome regulation both local and …

Resolving rates of mutation in the brain using single-neuron genomics

GD Evrony, E Lee, PJ Park, CA Walsh - Elife, 2016 - elifesciences.org
Whether somatic mutations contribute functional diversity to brain cells is a long-standing
question. Single-neuron genomics enables direct measurement of somatic mutation rates in …

Retrotransposon: a versatile player in human preimplantation development and health

Y Qu, Z Izsvák, J Wang - Life Medicine, 2023 - academic.oup.com
More than half of human genome is comprised of transposable elements (TEs), most of
which are the retrotransposons (or class I TEs). As the name suggests, retrotransposons …

Ubiquitous L1 mosaicism in hippocampal neurons

KR Upton, DJ Gerhardt, JS Jesuadian, SR Richardson… - Cell, 2015 - cell.com
Summary Somatic LINE-1 (L1) retrotransposition during neurogenesis is a potential source
of genotypic variation among neurons. As a neurogenic niche, the hippocampus supports …

SVA elements: a hominid-specific retroposon family

H Wang, J Xing, D Grover, DJ Hedges, K Han… - Journal of molecular …, 2005 - Elsevier
SVA is a composite repetitive element named after its main components, SINE, VNTR and
Alu. We have identified 2762 SVA elements from the human genome draft sequence …

SVA retrotransposons: Evolution and genetic instability

DC Hancks, HH Kazazian Jr - Seminars in cancer biology, 2010 - Elsevier
SINE-VNTR-Alus (SVA) are non-autonomous hominid specific retrotransposons that are
associated with disease in humans. SVAs are evolutionarily young and presumably …

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

X Zhu, B Zhou, R Pattni, K Gleason, C Tan… - Nature …, 2021 - nature.com
Retrotransposons can cause somatic genome variation in the human nervous system, which
is hypothesized to have relevance to brain development and neuropsychiatric disease …

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

P Ebert, PA Audano, Q Zhu, B Rodriguez-Martin… - Science, 2021 - science.org
INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …

Engineered LINE-1 retrotransposition in nondividing human neurons

A Macia, TJ Widmann, SR Heras, V Ayllon… - Genome …, 2017 - genome.cshlp.org
Half the human genome is made of transposable elements (TEs), whose ongoing activity
continues to impact our genome. LINE-1 (or L1) is an autonomous non-LTR retrotransposon …