Genome-wide maps of nucleolus interactions reveal distinct layers of repressive chromatin domains

C Bersaglieri, J Kresoja-Rakic, S Gupta, D Bär… - Nature …, 2022 - nature.com
Eukaryotic chromosomes are folded into hierarchical domains, forming functional
compartments. Nuclear periphery and nucleolus are two nuclear landmarks contributing to …

Extensive androgen receptor enhancer heterogeneity in primary prostate cancers underlies transcriptional diversity and metastatic potential

J Kneppers, TM Severson, JC Siefert, P Schol… - Nature …, 2022 - nature.com
Androgen receptor (AR) drives prostate cancer (PCa) development and progression. AR
chromatin binding profiles are highly plastic and form recurrent programmatic changes that …

Extreme purifying selection against point mutations in the human genome

N Dukler, MR Mughal, R Ramani, YF Huang… - Nature …, 2022 - nature.com
Large-scale genome sequencing has enabled the measurement of strong purifying
selection in protein-coding genes. Here we describe a new method, called ExtRaINSIGHT …

MaxHiC: A robust background correction model to identify biologically relevant chromatin interactions in Hi-C and capture Hi-C experiments

H Alinejad-Rokny, R Ghavami Modegh… - PLoS computational …, 2022 - journals.plos.org
Hi-C is a genome-wide chromosome conformation capture technology that detects
interactions between pairs of genomic regions and exploits higher order chromatin …

Discovery of genomic loci of the human cerebral cortex using genetically informed brain atlases

C Makowski, D van der Meer, W Dong, H Wang, Y Wu… - Science, 2022 - science.org
To determine the impact of genetic variants on the brain, we used genetically informed brain
atlases in genome-wide association studies of regional cortical surface area and thickness …

Universal annotation of the human genome through integration of over a thousand epigenomic datasets

H Vu, J Ernst - Genome biology, 2022 - Springer
Background Genome-wide maps of chromatin marks such as histone modifications and
open chromatin sites provide valuable information for annotating the non-coding genome …

Genetic association between epigenetic aging-acceleration and the progression of mild cognitive impairment to Alzheimer's disease

H Liu, M Lutz, S Luo… - The Journals of …, 2022 - academic.oup.com
Alzheimer's disease (AD) is a progressive neurodegenerative disorder, and previous studies
have shown its association with accelerated aging. In this study, we hypothesized that single …

Single-cell multiomics reveals the complexity of TGFβ signalling to chromatin in iPSC-derived kidney organoids

JL Davis, C Kennedy, S Clerkin, NJ Treacy… - Communications …, 2022 - nature.com
TGFβ1 plays a regulatory role in the determination of renal cell fate and the progression of
renal fibrosis. Here we show an association between SMAD3 and the histone …

The chromatin remodeling protein ATRX positively regulates IRF3-dependent type I interferon production and interferon-induced gene expression

AC Stilp, M Scherer, P König, A Fürstberger… - PLoS …, 2022 - journals.plos.org
The chromatin remodeling protein alpha thalassemia/mental retardation syndrome X-linked
(ATRX) is a component of promyelocytic leukemia nuclear bodies (PML-NBs) and thereby …

SNP-to-gene linking strategies reveal contributions of enhancer-related and candidate master-regulator genes to autoimmune disease

KK Dey, S Gazal, B van de Geijn, SS Kim, J Nasser… - Cell genomics, 2022 - cell.com
We assess contributions to autoimmune disease of genes whose regulation is driven by
enhancer regions (enhancer-related) and genes that regulate other genes in trans …