Locus-level L1 DNA methylation profiling reveals the epigenetic and transcriptional interplay between L1s and their integration sites DOI Creative Commons
Sophie Lanciano,

Claude Philippe,

Arpita Sarkar

et al.

Cell Genomics, Journal Year: 2024, Volume and Issue: 4(2), P. 100498 - 100498

Published: Feb. 1, 2024

Long interspersed element 1 (L1) retrotransposons are implicated in human disease and evolution. Their global activity is repressed by DNA methylation, but deciphering the regulation of individual copies has been challenging. Here, we combine short- long-read sequencing to unveil L1 methylation heterogeneity across cell types, families, loci elucidate key principles involved. We find that youngest primate families specifically hypomethylated pluripotent stem cells placenta not most tumors. Locally, intronic intimately associated with gene transcription. Conversely, state can propagate proximal region up 300 bp. This phenomenon accompanied binding specific transcription factors, which drive expression chimeric transcripts. Finally, hypomethylation alone typically insufficient trigger due redundant silencing pathways. Our results illuminate epigenetic transcriptional interplay between their host genome.

Language: Английский

The adult human testis transcriptional cell atlas DOI Creative Commons
Jingtao Guo, Edward J. Grow,

Hana Mlčochová

et al.

Cell Research, Journal Year: 2018, Volume and Issue: 28(12), P. 1141 - 1157

Published: Oct. 12, 2018

Human adult spermatogenesis balances spermatogonial stem cell (SSC) self-renewal and differentiation, alongside complex germ cell-niche interactions, to ensure long-term fertility faithful genome propagation. Here, we performed single-cell RNA sequencing of ~6500 testicular cells from young adults. We found five niche/somatic types (Leydig, myoid, Sertoli, endothelial, macrophage), observed germline-niche interactions key human-mouse differences. Spermatogenesis, including meiosis, was reconstructed computationally, revealing sequential coding, non-coding, repeat-element transcriptional signatures. Interestingly, identified discrete transcriptional/developmental states, a novel early SSC state, termed State 0. Epigenetic features nascent transcription analyses suggested developmental plasticity within States. To understand the origin 0, profiled infants, distinct similarities between 0 infant SSCs. Overall, our datasets describe epigenetic signatures normal human testis, provide new insights into transitions plasticity.

Language: Английский

Citations

575

STARsolo: accurate, fast and versatile mapping/quantification of single-cell and single-nucleus RNA-seq data DOI Creative Commons
Benjamin Kaminow, Dinar Yunusov, Alexander Dobin

et al.

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2021, Volume and Issue: unknown

Published: May 5, 2021

Abstract We present STARsolo , a comprehensive turnkey solution for quantifying gene expression in single-cell/nucleus RNA-seq data, built into aligner STAR . Using simulated data that closely resembles realistic scRNA-seq, we demonstrate is highly accurate and significantly outperforms pseudoalignment-to-transcriptome tools. can replicate the results of, but considerably faster than CellRanger currently most widely used tool pre-processing scRNA-seq data. In addition to uniquely mapped reads, takes account of multi-gene necessary detect certain classes biologically important genes. It has flexible cell barcode processing scheme, compatible with many established protocols, extendable emerging technologies. quantify transcriptomic features beyond expression, which illustrate by analyzing cell-type-specific alternative splicing Tabula Muris project.

Language: Английский

Citations

306

RNA promotes the formation of spatial compartments in the nucleus DOI Creative Commons
Sofia A. Quinodoz, Joanna W. Jachowicz, Prashant Bhat

et al.

Cell, Journal Year: 2021, Volume and Issue: 184(23), P. 5775 - 5790.e30

Published: Nov. 1, 2021

Language: Английский

Citations

299

Remodeling of epigenome and transcriptome landscapes with aging in mice reveals widespread induction of inflammatory responses DOI Creative Commons
Bérénice A. Benayoun, Elizabeth A. Pollina, Param Priya Singh

et al.

Genome Research, Journal Year: 2019, Volume and Issue: 29(4), P. 697 - 709

Published: March 11, 2019

Aging is accompanied by the functional decline of tissues. However, a systematic study epigenomic and transcriptomic changes across tissues during aging missing. Here, we generated chromatin maps transcriptomes from four one cell type young, middle-aged, old mice-yielding 143 high-quality data sets. We focused on marks linked to gene expression regulation identity: histone H3 trimethylation at lysine 4 (H3K4me3), mark enriched promoters, acetylation 27 (H3K27ac), active enhancers. Epigenomic landscapes could easily distinguish between ages, machine-learning analysis showed that specific states predict transcriptional aging. Analysis sets all identified recurrent age-related in key processes, including up-regulation immune system response pathways such as interferon response. The pathway with age was increased transcription remodeling endogenous retroviral sequences. Pathways misregulated mouse tissues, notably innate pathways, were also other vertebrate species-African turquoise killifish, rat, humans-indicating common signatures species. To date, our set represents largest multitissue for This resource identifies are characteristic young which be leveraged restore aspects youthful functionality

Language: Английский

Citations

296

Measuring and interpreting transposable element expression DOI
Sophie Lanciano, Gaël Cristofari

Nature Reviews Genetics, Journal Year: 2020, Volume and Issue: 21(12), P. 721 - 736

Published: June 23, 2020

Language: Английский

Citations

296

Transposable elements in human genetic disease DOI
Lindsay M. Payer, Kathleen H. Burns

Nature Reviews Genetics, Journal Year: 2019, Volume and Issue: 20(12), P. 760 - 772

Published: Sept. 12, 2019

Language: Английский

Citations

286

The RNA m6A reader YTHDC1 silences retrotransposons and guards ES cell identity DOI
Jiadong Liu, Mingwei Gao, Jiangping He

et al.

Nature, Journal Year: 2021, Volume and Issue: 591(7849), P. 322 - 326

Published: March 3, 2021

Language: Английский

Citations

250

Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia DOI Creative Commons
Oliver H. Tam,

Nikolay V. Rozhkov,

Regina Shaw

et al.

Cell Reports, Journal Year: 2019, Volume and Issue: 29(5), P. 1164 - 1177.e5

Published: Oct. 1, 2019

Language: Английский

Citations

243

Pangenomic Classification of Pituitary Neuroendocrine Tumors DOI Creative Commons

Mario Néou,

Chiara Villa,

Roberta Armignacco

et al.

Cancer Cell, Journal Year: 2019, Volume and Issue: 37(1), P. 123 - 134.e5

Published: Dec. 26, 2019

Language: Английский

Citations

243

Computational tools to unmask transposable elements DOI
Patricia Goerner-Potvin, Guillaume Bourque

Nature Reviews Genetics, Journal Year: 2018, Volume and Issue: 19(11), P. 688 - 704

Published: Sept. 19, 2018

Language: Английский

Citations

216