Active enhancers strengthen insulation by RNA-mediated CTCF binding at chromatin domain boundaries

Vertebrate genomes are partitioned into chromatin domains or topologically associating domains (TADs), which are typically bound by head-to-head pairs of CTCF binding sites. Transcription at domain boundaries correlates with better insulation; however, it is not known whether the boundary transcripts themselves contribute to boundary function. Here we characterize boundary-associated RNAs genome-wide, focusing on the disease-relevant INK4a/ARF and MYC TAD. Using CTCF site deletions and boundary-associated RNA knockdowns, we observe that boundary-associated RNAs facilitate recruitment and clustering of CTCF at TAD borders. The resulting CTCF enrichment enhances TAD insulation, enhancer–promoter interactions, and TAD gene expression. Importantly, knockdown of boundary-associated RNAs results in loss of boundary insulation function. Using enhancer deletions and CRISPRi of promoters, we show that active TAD enhancers, but not promoters, induce boundary-associated RNA transcription, thus defining a novel class of regulatory enhancer RNAs.

[1]  William Stafford Noble,et al.  Local chromatin fiber folding represses transcription and loop extrusion in quiescent cells , 2021, eLife.

[2]  D. Notani,et al.  An interdependent network of functional enhancers regulates transcription and EZH2 loading at the INK4a/ARF locus , 2021, Cell reports.

[3]  B. Bruneau,et al.  Regulation of single-cell genome organization into TADs and chromatin nanodomains , 2020, Nature Genetics.

[4]  Thomas G. Gilgenast,et al.  Alteration of genome folding via contact domain boundary insertion , 2020, Nature genetics.

[5]  J. Peters,et al.  Cohesin-Dependent and -Independent Mechanisms Mediate Chromosomal Contacts between Promoters and Enhancers , 2020, Cell reports.

[6]  A. Tsirigos,et al.  Three-dimensional chromatin landscapes in T cell acute lymphoblastic leukemia , 2020, Nature Genetics.

[7]  A. Harris,et al.  Looping of upstream cis-regulatory elements is required for CFTR expression in human airway epithelial cells , 2020, Nucleic acids research.

[8]  Timothy J. Peters,et al.  Constitutively bound CTCF sites maintain 3D chromatin architecture and long-range epigenetically regulated domains , 2020, Nature Communications.

[9]  A. S. Hansen,et al.  CTCF as a boundary factor for cohesin-mediated loop extrusion: evidence for a multi-step mechanism , 2020, Nucleus.

[10]  Jennifer E. Phillips-Cremins,et al.  On the existence and functionality of topologically associating domains , 2020, Nature Genetics.

[11]  Jie Xu,et al.  An integrative ENCODE resource for cancer genomics , 2019, Nature Communications.

[12]  D. Reinberg,et al.  RNA Interactions Are Essential for CTCF-Mediated Genome Organization. , 2019, Molecular cell.

[13]  S. Henikoff,et al.  Architectural RNA is required for heterochromatin organization , 2019, bioRxiv.

[14]  J. Rinn,et al.  Differential contribution of steady‐state RNA and active transcription in chromatin organization , 2019, EMBO reports.

[15]  S. Mundlos,et al.  Functional dissection of the Sox9–Kcnj2 locus identifies nonessential and instructive roles of TAD architecture , 2019, Nature Genetics.

[16]  Elie N. Farah,et al.  Transcriptionally Active HERV-H Retrotransposons Demarcate Topologically Associating Domains in Human Pluripotent Stem Cells , 2019, Nature Genetics.

[17]  R. Tjian,et al.  Distinct Classes of Chromatin Loops Revealed by Deletion of an RNA-Binding Region in CTCF. , 2019, Molecular cell.

[18]  D. Odom,et al.  Clustered CTCF binding is an evolutionary mechanism to maintain topologically associating domains , 2019, Genome Biology.

[19]  Ting Wang,et al.  WashU Epigenome Browser update 2019 , 2019, Nucleic Acids Res..

[20]  Anders S. Hansen,et al.  Resolving the 3D landscape of transcription-linked mammalian chromatin folding , 2019, bioRxiv.

[21]  D. Odom,et al.  Proteogenomics and Hi-C reveal transcriptional dysregulation in high hyperdiploid childhood acute lymphoblastic leukemia , 2019, Nature Communications.

[22]  Ilya M. Flyamer,et al.  Coolpup.py: versatile pile-up analysis of Hi-C data , 2019, bioRxiv.

[23]  Stefan Mundlos,et al.  Identifying cis Elements for Spatiotemporal Control of Mammalian DNA Replication , 2019, Cell.

[24]  K. Plath,et al.  Promoter-Enhancer Communication Occurs Primarily within Insulated Neighborhoods. , 2019, Molecular cell.

[25]  Ilya M. Flyamer,et al.  Developmentally regulated Shh expression is robust to TAD perturbations , 2019, Development.

[26]  E. Komives,et al.  RNAs interact with BRD4 to promote enhanced chromatin engagement and transcription activation , 2018, Nature Structural & Molecular Biology.

[27]  B. Tabak,et al.  Higher-Order Inter-chromosomal Hubs Shape 3D Genome Organization in the Nucleus , 2018, Cell.

[28]  J. Mallm,et al.  HMGB2 Loss upon Senescence Entry Disrupts Genomic Organization and Induces CTCF Clustering across Cell Types. , 2018, Molecular cell.

[29]  D. Waxman,et al.  Computational prediction of CTCF/cohesin-based intra-TAD loops that insulate chromatin contacts and gene expression in mouse liver , 2018, eLife.

[30]  Daniel S. Day,et al.  Transcriptional Dysregulation of MYC Reveals Common Enhancer-Docking Mechanism , 2018, Cell reports.

[31]  P. Kambadur,et al.  Stratification of TAD boundaries reveals preferential insulation of super-enhancers by strong boundaries , 2018, Nature Communications.

[32]  L. Mirny,et al.  Chromatin organization by an interplay of loop extrusion and compartmental segregation , 2017, Proceedings of the National Academy of Sciences.

[33]  J. Ellenberg,et al.  Topologically associating domains and chromatin loops depend on cohesin and are regulated by CTCF, WAPL, and PDS5 proteins , 2017, The EMBO journal.

[34]  A. Tanay,et al.  Multiscale 3D Genome Rewiring during Mouse Neural Development , 2017, Cell.

[35]  T. Vuorenmaa,et al.  Analysis of primary microRNA loci from nascent transcriptomes reveals regulatory domains governed by chromatin architecture , 2017, Nucleic acids research.

[36]  Erez Lieberman Aiden,et al.  Cohesin Loss Eliminates All Loop Domains , 2017, Cell.

[37]  Nuno A. Fonseca,et al.  Two independent modes of chromatin organization revealed by cohesin removal , 2017, Nature.

[38]  Yijun Ruan,et al.  Evolutionarily Conserved Principles Predict 3D Chromatin Organization. , 2017, Molecular cell.

[39]  D. Price,et al.  Oxidative stress rapidly stabilizes promoter-proximal paused Pol II across the human genome , 2017, Nucleic acids research.

[40]  A. Dean,et al.  CTCF fences make good neighbours , 2017, Nature Cell Biology.

[41]  Matthew E. Gosden,et al.  Tissue-specific CTCF/Cohesin-mediated chromatin architecture delimits enhancer interactions and function in vivo , 2017, Nature Cell Biology.

[42]  L. Mirny,et al.  Targeted Degradation of CTCF Decouples Local Insulation of Chromosome Domains from Genomic Compartmentalization , 2017, Cell.

[43]  Juan M. Vaquerizas,et al.  Chromatin Architecture Emerges during Zygotic Genome Activation Independent of Transcription , 2017, Cell.

[44]  S. Q. Xie,et al.  Complex multi-enhancer contacts captured by Genome Architecture Mapping (GAM) , 2017, Nature.

[45]  Maria Carmo-Fonseca,et al.  Distinctive Patterns of Transcription and RNA Processing for Human lincRNAs , 2017, Molecular cell.

[46]  D. Notani,et al.  Isolation of Nuclear RNA-Associated Protein Complexes. , 2017, Methods in molecular biology.

[47]  U. A. Ørom,et al.  Cellular Fractionation and Isolation of Chromatin-Associated RNA. , 2017, Methods in molecular biology.

[48]  Steven Henikoff,et al.  An efficient targeted nuclease strategy for high-resolution mapping of DNA binding sites , 2016, bioRxiv.

[49]  Howard Y. Chang,et al.  Structural organization of the inactive X chromosome in the mouse , 2016, Nature.

[50]  Neva C. Durand,et al.  Juicer Provides a One-Click System for Analyzing Loop-Resolution Hi-C Experiments. , 2016, Cell systems.

[51]  L. Mirny,et al.  Formation of Chromosomal Domains in Interphase by Loop Extrusion , 2015, bioRxiv.

[52]  Fidel Ramírez,et al.  deepTools2: a next generation web server for deep-sequencing data analysis , 2016, Nucleic Acids Res..

[53]  M. Rosenfeld,et al.  Enhancers as non-coding RNA transcription units: recent insights and future perspectives , 2016, Nature Reviews Genetics.

[54]  L. Mirny,et al.  The 3D Genome as Moderator of Chromosomal Communication , 2016, Cell.

[55]  Christian L. Müller,et al.  4C-ker: A Method to Reproducibly Identify Genome-Wide Interactions Captured by 4C-Seq Experiments , 2016, bioRxiv.

[56]  Shawn M. Gillespie,et al.  Insulator dysfunction and oncogene activation in IDH mutant gliomas , 2015, Nature.

[57]  Steven L Salzberg,et al.  HISAT: a fast spliced aligner with low memory requirements , 2015, Nature Methods.

[58]  Pedro P. Rocha,et al.  CTCF establishes discrete functional chromatin domains at the Hox clusters during differentiation , 2015, Science.

[59]  Neva C. Durand,et al.  A 3D Map of the Human Genome at Kilobase Resolution Reveals Principles of Chromatin Looping , 2014, Cell.

[60]  D. Corey,et al.  Analysis of nuclear RNA interference in human cells by subcellular fractionation and Argonaute loading , 2014, Nature Protocols.

[61]  T. Meehan,et al.  An atlas of active enhancers across human cell types and tissues , 2014, Nature.

[62]  Andreas Kaiser,et al.  Depletion of the cdk Inhibitor p16INK4a Differentially Affects Proliferation of Established Cervical Carcinoma Cells , 2014, Journal of Virology.

[63]  C. Glass,et al.  Functional roles of enhancer RNAs for oestrogen-dependent transcriptional activation , 2013, Nature.

[64]  Amos Tanay,et al.  Robust 4C-seq data analysis to screen for regulatory DNA interactions , 2012, Nature Methods.

[65]  Jesse R. Dixon,et al.  Topological Domains in Mammalian Genomes Identified by Analysis of Chromatin Interactions , 2012, Nature.

[66]  Steven L Salzberg,et al.  Fast gapped-read alignment with Bowtie 2 , 2012, Nature Methods.

[67]  C. Glass,et al.  Simple combinations of lineage-determining transcription factors prime cis-regulatory elements required for macrophage and B cell identities. , 2010, Molecular cell.

[68]  Aaron R. Quinlan,et al.  Bioinformatics Applications Note Genome Analysis Bedtools: a Flexible Suite of Utilities for Comparing Genomic Features , 2022 .

[69]  A. Krumm,et al.  Targeted Deletion of Multiple CTCF-Binding Elements in the Human C-MYC Gene Reveals a Requirement for CTCF in C-MYC Expression , 2009, PloS one.

[70]  Gonçalo R. Abecasis,et al.  The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..

[71]  Tom H. Pringle,et al.  The human genome browser at UCSC. , 2002, Genome research.