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 …

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 …

Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility

WC Warren, RA Harris, M Haukness, IT Fiddes… - Science, 2020 - science.org
INTRODUCTION The rhesus macaque (Macaca mulatta) is one of the most widely used
nonhuman primate (NHP) models for studying human biology and disease. As a …

Profiling of repetitive RNA sequences in the blood plasma of patients with cancer

RE Reggiardo, SV Maroli, V Peddu… - Nature Biomedical …, 2023 - nature.com
Liquid biopsies provide a means for the profiling of cell-free RNAs secreted by cells
throughout the body. Although well-annotated coding and non-coding transcripts in blood …

Biology and model predictions of the dynamics and heterogeneity of chromatin-nuclear lamina interactions

J Madsen-Østerbye, A Bellanger… - Frontiers in Cell and …, 2022 - frontiersin.org
Associations of chromatin with the nuclear lamina, at the nuclear periphery, help shape the
genome in 3 dimensions. The genomic landscape of lamina-associated domains (LADs) is …

Mosaic cis-regulatory evolution drives transcriptional partitioning of HERVH endogenous retrovirus in the human embryo

TA Carter, M Singh, G Dumbović, JD Chobirko, JL Rinn… - Elife, 2022 - elifesciences.org
The human endogenous retrovirus type-H (HERVH) family is expressed in the
preimplantation embryo. A subset of these elements are specifically transcribed in …

A hidden layer of structural variation in transposable elements reveals potential genetic modifiers in human disease-risk loci

EJ van Bree, RLFP Guimarães, M Lundberg… - Genome …, 2022 - genome.cshlp.org
Genome-wide association studies (GWAS) have been highly informative in discovering
disease-associated loci but are not designed to capture all structural variations in the human …

RepeatProfiler: a pipeline for visualization and comparative analysis of repetitive DNA profiles

S Negm, A Greenberg, AM Larracuente… - Molecular ecology …, 2021 - Wiley Online Library
Study of repetitive DNA elements in model organisms highlights the role of repetitive
elements (REs) in many processes that drive genome evolution and phenotypic change …

Dysregulation of human somatic piRNA expression in Parkinson's disease subtypes and stages

T Zhang, G Wong - International Journal of Molecular Sciences, 2022 - mdpi.com
Piwi interacting RNAs (piRNAs) are small non-coding single-stranded RNA species 20–31
nucleotides in size generated from distinct loci. In germline tissues, piRNAs are amplified via …

Accelerating de novo SINE annotation in plant and animal genomes

H Liao, Y Sun, S Ou - Mobile DNA, 2024 - Springer
Genome annotation is an important but challenging task. Accurate identification of short
interspersed nuclear elements (SINEs) is particularly difficult due to their lack of highly …