Transposable elements in human genetic disease

LM Payer, KH Burns - Nature Reviews Genetics, 2019 - nature.com
Transposable elements are abundant in the human genome, and great strides have been
made in pinpointing variations in these repetitive sequences using whole-genome …

[HTML][HTML] Transposable elements, inflammation, and neurological disease

A Saleh, A Macia, AR Muotri - Frontiers in neurology, 2019 - frontiersin.org
Transposable Elements (TE) are mobile DNA elements that can replicate and insert
themselves into different locations within the host genome. Their propensity to self …

[HTML][HTML] Frequency and mechanisms of LINE-1 retrotransposon insertions at CRISPR/Cas9 sites

J Tao, Q Wang, C Mendez-Dorantes, KH Burns… - Nature …, 2022 - nature.com
CRISPR/Cas9-based genome editing has revolutionized experimental molecular biology
and entered the clinical world for targeted gene therapy. Identifying DNA modifications …

p53 directly represses human LINE1 transposons

B Tiwari, AE Jones, CJ Caillet, S Das… - Genes & …, 2020 - genesdev.cshlp.org
Abstract p53 is a potent tumor suppressor and commonly mutated in human cancers.
Recently, we demonstrated that p53 genes act to restrict retrotransposons in germline …

LINE-1 retrotransposition and its deregulation in cancers: implications for therapeutic opportunities

C Mendez-Dorantes, KH Burns - Genes & development, 2023 - genesdev.cshlp.org
Abstract Long interspersed element 1 (LINE-1) is the only protein-coding transposon that is
active in humans. LINE-1 propagates in the genome using RNA intermediates via …

The human LINE-1 retrotransposon creates DNA double-strand breaks

SL Gasior, TP Wakeman, B Xu, PL Deininger - Journal of molecular biology, 2006 - Elsevier
Long interspersed element-1 (L1) is an autonomous retroelement that is active in the human
genome. The proposed mechanism of insertion for L1 suggests that cleavage of both …

Our conflict with transposable elements and its implications for human disease

KH Burns - Annual Review of Pathology: Mechanisms of …, 2020 - annualreviews.org
Our genome is a historic record of successive invasions of mobile genetic elements. Like
other eukaryotes, we have evolved mechanisms to limit their propagation and minimize the …

[图书][B] Transposable elements: classification, identification, and their use as a tool for comparative genomics

W Makałowski, V Gotea, A Pande, I Makałowska - 2019 - Springer
Most genomes are populated by hundreds of thousands of sequences originated from
mobile elements. On the one hand, these sequences present a real challenge in the process …

[HTML][HTML] A role for retrotransposon LINE-1 in fetal oocyte attrition in mice

S Malki, GW van der Heijden, KA O'Donnell, SL Martin… - Developmental cell, 2014 - cell.com
Fetal oocyte attrition (FOA) is a conserved but poorly understood process of elimination of
more than two-thirds of meiotic prophase I (MPI) oocytes before birth. We now implicate …

Mammalian non-LTR retrotransposons: for better or worse, in sickness and in health

VP Belancio, DJ Hedges, P Deininger - Genome research, 2008 - genome.cshlp.org
Transposable elements (TEs) have shared an exceptionally long coexistence with their host
organisms and have come to occupy a significant fraction of eukaryotic genomes. The bulk …