The role of retrotransposable elements in ageing and age-associated diseases

V Gorbunova, A Seluanov, P Mita, W McKerrow… - Nature, 2021 - nature.com
The genomes of virtually all organisms contain repetitive sequences that are generated by
the activity of transposable elements (transposons). Transposons are mobile genetic …

Roles for retrotransposon insertions in human disease

DC Hancks, HH Kazazian - Mobile DNA, 2016 - Springer
Over evolutionary time, the dynamic nature of a genome is driven, in part, by the activity of
transposable elements (TE) such as retrotransposons. On a shorter time scale it has been …

SAMHD1 acts at stalled replication forks to prevent interferon induction

F Coquel, MJ Silva, H Técher, K Zadorozhny, S Sharma… - Nature, 2018 - nature.com
SAMHD1 was previously characterized as a dNTPase that protects cells from viral infections.
Mutations in SAMHD1 are implicated in cancer development and in a severe congenital …

Aicardi–Goutières syndrome and the type I interferonopathies

YJ Crow, N Manel - Nature Reviews Immunology, 2015 - nature.com
Dissection of the genetic basis of Aicardi–Goutières syndrome has highlighted a
fundamental link between nucleic acid metabolism, innate immune sensors and type I …

Restricting retrotransposons: a review

JL Goodier - Mobile DNA, 2016 - Springer
Retrotransposons have generated about 40% of the human genome. This review examines
the strategies the cell has evolved to coexist with these genomic “parasites”, focussing on …

Modeling of TREX1-dependent autoimmune disease using human stem cells highlights L1 accumulation as a source of neuroinflammation

CA Thomas, L Tejwani, CA Trujillo, PD Negraes… - Cell stem cell, 2017 - cell.com
Three-prime repair exonuclease 1 (TREX1) is an anti-viral enzyme that cleaves nucleic
acids in the cytosol, preventing accumulation and a subsequent type I interferon-associated …

Hominoid-specific transposable elements and KZFPs facilitate human embryonic genome activation and control transcription in naive human ESCs

J Pontis, E Planet, S Offner, P Turelli, J Duc, A Coudray… - Cell stem cell, 2019 - cell.com
Expansion of transposable elements (TEs) coincides with evolutionary shifts in gene
expression. TEs frequently harbor binding sites for transcriptional regulators, thus enabling …

Type I interferon in the pathogenesis of lupus

MK Crow - The Journal of Immunology, 2014 - journals.aai.org
Investigations of patients with systemic lupus erythematosus have applied insights from
studies of the innate immune response to define IFN-I, with IFN-α as the dominant mediator …

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 …

The influence of LINE‐1 and SINE retrotransposons on mammalian genomes

SR Richardson, AJ Doucet, HC Kopera… - Mobile DNA …, 2015 - Wiley Online Library
Transposable elements (TEs) or “jumping genes” historically have been disparaged as a
class of “junk DNA” in mammalian genomes (1, 2). The advent of whole genome DNA …