Cytoplasmic DNA: sources, sensing, and role in aging and disease
Endogenous cytoplasmic DNA (cytoDNA) species are emerging as key mediators of
inflammation in diverse physiological and pathological contexts. Although the role of …
inflammation in diverse physiological and pathological contexts. Although the role of …
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 …
transposable elements (TE) such as retrotransposons. On a shorter time scale it has been …
Multi-platform discovery of haplotype-resolved structural variation in human genomes
The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a …
data limits studies of human genetic diversity and disease association. Here, we apply a …
The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biology
Mobile element insertions (MEIs) represent∼ 25% of all structural variants in human
genomes. Moreover, when they disrupt genes, MEIs can influence human traits and …
genomes. Moreover, when they disrupt genes, MEIs can influence human traits and …
Selective silencing of euchromatic L1s revealed by genome-wide screens for L1 regulators
Transposable elements, also known as transposons, are now recognized not only as
parasitic DNA, the spread of which in the genome must be controlled by the host, but also as …
parasitic DNA, the spread of which in the genome must be controlled by the host, but also as …
Modeling of TREX1-dependent autoimmune disease using human stem cells highlights L1 accumulation as a source of neuroinflammation
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 …
acids in the cytosol, preventing accumulation and a subsequent type I interferon-associated …
Hot L1s account for the bulk of retrotransposition in the human population
B Brouha, J Schustak, RM Badge… - Proceedings of the …, 2003 - National Acad Sciences
Although LINE-1 (long interspersed nucleotide element-1, L1) retrotransposons comprise
17% of the human genome, an exhaustive search of the December 2001 “freeze” of the …
17% of the human genome, an exhaustive search of the December 2001 “freeze” of the …
LINE-1 retrotransposition activity in human genomes
Summary Highly active (ie," hot") long interspersed element-1 (LINE-1 or L1) sequences
comprise the bulk of retrotransposition activity in the human genome; however, the …
comprise the bulk of retrotransposition activity in the human genome; however, the …
LINE-1 elements in structural variation and disease
CR Beck, JL Garcia-Perez, RM Badge… - Annual review of …, 2011 - annualreviews.org
The completion of the human genome reference sequence ushered in a new era for the
study and discovery of human transposable elements. It now is undeniable that …
study and discovery of human transposable elements. It now is undeniable that …
Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition
Revealing the mechanisms for neuronal somatic diversification remains a central challenge
for understanding individual differences in brain organization and function. Here we show …
for understanding individual differences in brain organization and function. Here we show …