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 …

Ten things you should know about transposable elements

G Bourque, KH Burns, M Gehring, V Gorbunova… - Genome biology, 2018 - Springer
Transposable elements (TEs) are major components of eukaryotic genomes. However, the
extent of their impact on genome evolution, function, and disease remain a matter of intense …

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 …

From telomere to telomere: The transcriptional and epigenetic state of human repeat elements

SJ Hoyt, JM Storer, GA Hartley, PGS Grady… - Science, 2022 - science.org
Mobile elements and repetitive genomic regions are sources of lineage-specific genomic
innovation and uniquely fingerprint individual genomes. Comprehensive analyses of such …

Multi-platform discovery of haplotype-resolved structural variation in human genomes

MJP Chaisson, AD Sanders, X Zhao, A Malhotra… - Nature …, 2019 - nature.com
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 …

Regulation of transposable elements by DNA modifications

Ö Deniz, JM Frost, MR Branco - Nature Reviews Genetics, 2019 - nature.com
Maintenance of genome stability requires control over the expression of transposable
elements (TEs), whose activity can have substantial deleterious effects on the host …

Measuring and interpreting transposable element expression

S Lanciano, G Cristofari - Nature Reviews Genetics, 2020 - nature.com
Transposable elements (TEs) are insertional mutagens that contribute greatly to the
plasticity of eukaryotic genomes, influencing the evolution and adaptation of species as well …

Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

B Rodriguez-Martin, EG Alvarez, A Baez-Ortega… - Nature …, 2020 - nature.com
About half of all cancers have somatic integrations of retrotransposons. Here, to characterize
their role in oncogenesis, we analyzed the patterns and mechanisms of somatic …

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 …

Transposable elements in cancer

KH Burns - Nature Reviews Cancer, 2017 - nature.com
Transposable elements give rise to interspersed repeats, sequences that comprise most of
our genomes. These mobile DNAs have been historically underappreciated—both because …