Ever-changing landscapes: transcriptional enhancers in development and evolution

HK Long, SL Prescott, J Wysocka - Cell, 2016 - cell.com
A class of cis-regulatory elements, called enhancers, play a central role in orchestrating
spatiotemporally precise gene-expression programs during development. Consequently …

Comparative transcriptomics in human and mouse

A Breschi, TR Gingeras, R Guigó - Nature Reviews Genetics, 2017 - nature.com
Cross-species comparisons of genomes, transcriptomes and gene regulation are now
feasible at unprecedented resolution and throughput, enabling the comparison of human …

A genome-wide mutational constraint map quantified from variation in 76,156 human genomes

S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai… - BioRxiv, 2022 - biorxiv.org
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders, but …

Expanded encyclopaedias of DNA elements in the human and mouse genomes

JE Moore, MJ Purcaro, HE Pratt, CB Epstein… - Nature, 2020 - nature.com
The human and mouse genomes contain instructions that specify RNAs and proteins and
govern the timing, magnitude, and cellular context of their production. To better delineate …

Index and biological spectrum of human DNase I hypersensitive sites

W Meuleman, A Muratov, E Rynes, J Halow, K Lee… - Nature, 2020 - nature.com
DNase I hypersensitive sites (DHSs) are generic markers of regulatory DNA,,,–and contain
genetic variations associated with diseases and phenotypic traits,–. We created high …

A single-cell atlas of in vivo mammalian chromatin accessibility

DA Cusanovich, AJ Hill, D Aghamirzaie, RM Daza… - Cell, 2018 - cell.com
We applied a combinatorial indexing assay, sci-ATAC-seq, to profile genome-wide
chromatin accessibility in∼ 100,000 single cells from 13 adult mouse tissues. We identify 85 …

Impact of cytosine methylation on DNA binding specificities of human transcription factors

Y Yin, E Morgunova, A Jolma, E Kaasinen, B Sahu… - Science, 2017 - science.org
INTRODUCTION Nearly all cells in the human body share the same primary genome
sequence consisting of four nucleotide bases. One of the bases, cytosine, is commonly …

Global reference mapping of human transcription factor footprints

J Vierstra, J Lazar, R Sandstrom, J Halow, K Lee… - Nature, 2020 - nature.com
Combinatorial binding of transcription factors to regulatory DNA underpins gene regulation
in all organisms. Genetic variation in regulatory regions has been connected with diseases …

The epigenetic landscape of T cell exhaustion

DR Sen, J Kaminski, RA Barnitz, M Kurachi… - Science, 2016 - science.org
Exhausted T cells in cancer and chronic viral infection express distinctive patterns of genes,
including sustained expression of programmed cell death protein 1 (PD-1). However, the …

Changes in regeneration-responsive enhancers shape regenerative capacities in vertebrates

W Wang, CK Hu, A Zeng, D Alegre, D Hu, K Gotting… - Science, 2020 - science.org
INTRODUCTION The ability to regenerate tissues lost to damage or disease is widely but
nonuniformly distributed in vertebrates. Some animals such as teleost fishes can regenerate …