Repetitive elements in aging and neurodegeneration

KE Copley, J Shorter - Trends in Genetics, 2023 - cell.com
Repetitive elements (REs), such as transposable elements (TEs) and satellites, comprise
much of the genome. Here, we review how TEs and (peri) centromeric satellite DNA may …

Diseases of the nERVous system: retrotransposon activity in neurodegenerative disease

OH Tam, LW Ostrow, M Gale Hammell - Mobile DNA, 2019 - Springer
Abstract Transposable Elements (TEs) are mobile genetic elements whose sequences
constitute nearly half of the human genome. Each TE copy can be present in hundreds to …

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 …

Nuclear cGAS restricts L1 retrotransposition by promoting TRIM41-mediated ORF2p ubiquitination and degradation

Z Zhen, Y Chen, H Wang, H Tang, H Zhang… - Nature …, 2023 - nature.com
Abstract Cyclic GMP–AMP synthase (cGAS), initially identified as a cytosolic DNA sensor,
detects DNA fragments to trigger an innate immune response. Recently, accumulating …

Type I interferons in host defence and inflammatory diseases

MK Crow, L Ronnblom - Lupus Science & Medicine, 2019 - lupus.bmj.com
Type I interferons (IFN) can have dual and opposing roles in immunity, with effects that are
beneficial or detrimental to the individual depending on whether IFN pathway activation is …

cGAS/STING pathway activation contributes to delayed neurodegeneration in neonatal hypoxia-ischemia rat model: possible involvement of LINE-1

M Gamdzyk, DM Doycheva, C Araujo, U Ocak… - Molecular …, 2020 - Springer
Abstract cGAS is a sensor of cytosolic DNA and responds equally to exogenous and
endogenous DNA. After recognition of cytosolic dsDNA or ssDNA, cGAS synthesizes the …

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 …

Selection on synonymous sites: the unwanted transcript hypothesis

S Radrizzani, G Kudla, Z Izsvák, LD Hurst - Nature Reviews Genetics, 2024 - nature.com
Although translational selection to favour codons that match the most abundant tRNAs is not
readily observed in humans, there is nonetheless selection in humans on synonymous …

Factors regulating the activity of LINE1 retrotransposons

MS Protasova, TV Andreeva, EI Rogaev - Genes, 2021 - mdpi.com
LINE-1 (L1) is a class of autonomous mobile genetic elements that form somatic mosaicisms
in various tissues of the organism. The activity of L1 retrotransposons is strictly controlled by …

TDP-43 safeguards the embryo genome from L1 retrotransposition

TD Li, K Murano, T Kitano, Y Guo, L Negishi… - Science …, 2022 - science.org
Transposable elements (TEs) are genomic parasites that propagate within the host genome
and introduce mutations. Long interspersed nuclear element-1 (LINE-1 or L1) is the major …