Comparison of the Hi-C, GAM and SPRITE methods using polymer models of chromatin.


Journal

Nature methods
ISSN: 1548-7105
Titre abrégé: Nat Methods
Pays: United States
ID NLM: 101215604

Informations de publication

Date de publication:
05 2021
Historique:
received: 29 05 2020
accepted: 31 03 2021
entrez: 8 5 2021
pubmed: 9 5 2021
medline: 28 7 2021
Statut: ppublish

Résumé

Hi-C, split-pool recognition of interactions by tag extension (SPRITE) and genome architecture mapping (GAM) are powerful technologies utilized to probe chromatin interactions genome wide, but how faithfully they capture three-dimensional (3D) contacts and how they perform relative to each other is unclear, as no benchmark exists. Here, we compare these methods in silico in a simplified, yet controlled, framework against known 3D structures of polymer models of murine and human loci, which can recapitulate Hi-C, GAM and SPRITE experiments and multiplexed fluorescence in situ hybridization (FISH) single-molecule conformations. We find that in silico Hi-C, GAM and SPRITE bulk data are faithful to the reference 3D structures whereas single-cell data reflect strong variability among single molecules. The minimal number of cells required in replicate experiments to return statistically similar contacts is different across the technologies, being lowest in SPRITE and highest in GAM under the same conditions. Noise-to-signal levels follow an inverse power law with detection efficiency and grow with genomic distance differently among the three methods, being lowest in GAM for genomic separations >1 Mb.

Identifiants

pubmed: 33963348
doi: 10.1038/s41592-021-01135-1
pii: 10.1038/s41592-021-01135-1
pmc: PMC8416658
doi:

Substances chimiques

Chromatin 0
Polymers 0

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

482-490

Subventions

Organisme : NIDDK NIH HHS
ID : U54 DK107977
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG011585
Pays : United States

Commentaires et corrections

Type : CommentIn
Type : ErratumIn

Références

Kempfer, R. & Pombo, A. Methods for mapping 3D chromosome architecture. Nat. Rev. Genet. 21, 207–226 (2019).
pubmed: 31848476 doi: 10.1038/s41576-019-0195-2
Lieberman-Aiden, E. et al. Comprehensive mapping of long-range interactions reveals folding principles of the human genome. Science 326, 289–293 (2009).
pubmed: 19815776 pmcid: 2858594 doi: 10.1126/science.1181369
Fullwood, M. J. et al. An oestrogen-receptor-α-bound human chromatin interactome. Nature 462, 58–64 (2009).
pubmed: 19890323 pmcid: 2774924 doi: 10.1038/nature08497
Rao, S. S. P. et al. A 3D map of the human genome at kilobase resolution reveals principles of chromatin looping. Cell 159, 1665–1680 (2014).
pubmed: 25497547 pmcid: 5635824 doi: 10.1016/j.cell.2014.11.021
Mumbach, M. R. et al. HiChIP: efficient and sensitive analysis of protein-directed genome architecture. Nat. Methods 13, 919–922 (2016).
pubmed: 27643841 pmcid: 5501173 doi: 10.1038/nmeth.3999
Oudelaar, A. M. et al. Single-allele chromatin interactions identify regulatory hubs in dynamic compartmentalized domains. Nat. Genet. 50, 1744–1751 (2018).
pubmed: 30374068 pmcid: 6265079 doi: 10.1038/s41588-018-0253-2
Hsieh, T. H. S. et al. Mapping nucleosome resolution chromosome folding in yeast by micro-C. Cell 162, 108–119 (2015).
pubmed: 26119342 pmcid: 4509605 doi: 10.1016/j.cell.2015.05.048
Krietenstein, N. et al. Ultrastructural details of mammalian chromosome architecture. Mol. Cell 78, 554–565 (2020).
pubmed: 32213324 pmcid: 7222625 doi: 10.1016/j.molcel.2020.03.003
Beagrie, R. A. et al. Complex multi-enhancer contacts captured by genome architecture mapping. Nature 543, 519–524 (2017).
pubmed: 28273065 pmcid: 5366070 doi: 10.1038/nature21411
Quinodoz, S. A. et al. Higher-order inter-chromosomal hubs shape 3D genome organization in the nucleus. Cell 174, 744–757 (2018).
pubmed: 29887377 pmcid: 6548320 doi: 10.1016/j.cell.2018.05.024
Bickmore, W. A. The spatial organization of the human genome. Annu. Rev. Genomics Hum. Genet. 14, 67–84 (2013).
pubmed: 23875797 doi: 10.1146/annurev-genom-091212-153515
Dekker, J. & Misteli, T. Long-range chromatin interactions. Cold Spring Harb. Perspect. Biol. 7, a019356 (2015).
pubmed: 26430217 pmcid: 4588061 doi: 10.1101/cshperspect.a019356
Pombo, A. & Dillon, N. Three-dimensional genome architecture: players and mechanisms. Nat. Rev. Mol. Cell Biol. 16, 245–257 (2015).
pubmed: 25757416 doi: 10.1038/nrm3965
Dekker, J. & Mirny, L. The 3D genome as moderator of chromosomal communication. Cell 164, 1110–1121 (2016).
pubmed: 26967279 pmcid: 4788811 doi: 10.1016/j.cell.2016.02.007
Dixon, J. R., Gorkin, D. U. & Ren, B. Chromatin domains: the unit of chromosome organization. Mol. Cell 62, 668–680 (2016).
pubmed: 27259200 pmcid: 5371509 doi: 10.1016/j.molcel.2016.05.018
Spielmann, M., Lupiáñez, D. G. & Mundlos, S. Structural variation in the 3D genome. Nat. Rev. Genet. 19, 453–467 (2018).
pubmed: 29692413 doi: 10.1038/s41576-018-0007-0
Finn, E. H. & Misteli, T. Molecular basis and biological function of variability in spatial genome organization. Science 365, eaaw9498 (2019).
pubmed: 31488662 pmcid: 7421438 doi: 10.1126/science.aaw9498
Nora, E. P. et al. Spatial partitioning of the regulatory landscape of the X-inactivation centre. Nature 485, 381–385 (2012).
pubmed: 22495304 pmcid: 3555144 doi: 10.1038/nature11049
Dixon, J. R. et al. Topological domains in mammalian genomes identified by analysis of chromatin interactions. Nature 485, 376–380 (2012).
pubmed: 22495300 pmcid: 3356448 doi: 10.1038/nature11082
Fraser, J. et al. Hierarchical folding and reorganization of chromosomes are linked to transcriptional changes in cellular differentiation. Mol. Syst. Biol. 11, 852 (2015).
pubmed: 26700852 pmcid: 4704492 doi: 10.15252/msb.20156492
Cattoni, D. I. et al. Single-cell absolute contact probability detection reveals chromosomes are organized by multiple low-frequency yet specific interactions. Nat. Commun. 8, 1753 (2017)..
Bintu, B. et al. Super-resolution chromatin tracing reveals domains and cooperative interactions in single cells. Science 362, eaau1783 (2018).
pubmed: 30361340 pmcid: 6535145 doi: 10.1126/science.aau1783
Cardozo Gizzi, A. M. et al. Microscopy-based chromosome conformation capture enables simultaneous visualization of genome organization and transcription in intact organisms. Mol. Cell 74, 212–222 (2019).
pubmed: 30795893 doi: 10.1016/j.molcel.2019.01.011
Finn, E. H. et al. Extensive heterogeneity and intrinsic variation in spatial genome organization. Cell 176, 1502–1515 (2019).
pubmed: 30799036 pmcid: 6408223 doi: 10.1016/j.cell.2019.01.020
Chiariello, A. M., Annunziatella, C., Bianco, S., Esposito, A. & Nicodemi, M. Polymer physics of chromosome large-scale 3D organisation. Sci. Rep. 6, 29775 (2016).
pubmed: 27405443 pmcid: 4942835 doi: 10.1038/srep29775
Bianco, S. et al. Modeling single-molecule conformations of the HoxD region in mouse embryonic stem and cortical neuronal cells. Cell Rep. 28, 1574–1583 (2019).
pubmed: 31390570 doi: 10.1016/j.celrep.2019.07.013
Bianco, S. et al. Polymer physics predicts the effects of structural variants on chromatin architecture. Nat. Genet. 50, 662–667 (2018).
pubmed: 29662163 doi: 10.1038/s41588-018-0098-8
Conte, M. et al. Polymer physics indicates chromatin folding variability across single-cells results from state degeneracy in phase separation. Nat. Commun. 11, 3289 (2020).
pubmed: 32620890 pmcid: 7335158 doi: 10.1038/s41467-020-17141-4
Lupiáñez, D. G. et al. Disruptions of topological chromatin domains cause pathogenic rewiring of gene–enhancer interactions. Cell 161, 1012–1025 (2015).
pubmed: 25959774 pmcid: 4791538 doi: 10.1016/j.cell.2015.04.004
Andrey, G. et al. A switch between topological domains underlies HoxD genes collinearity in mouse limbs. Science 340, 1234167 (2013).
Noordermeer, D. et al. The dynamic architecture of Hox gene clusters. Science 334, 222–225 (2011).
pubmed: 21998387 doi: 10.1126/science.1207194
Li, Q. et al. The three-dimensional genome organization of Drosophila melanogaster through data integration. Genome Biol. 18, 145 (2017).
pubmed: 28760140 pmcid: 5576134 doi: 10.1186/s13059-017-1264-5
Serra, F. et al. Automatic analysis and 3D-modelling of Hi-C data using TADbit reveals structural features of the fly chromatin colors. PLoS Comput. Biol. 13, e1005665 (2017).
pubmed: 28723903 pmcid: 5540598 doi: 10.1371/journal.pcbi.1005665
Nir, G. et al. Walking along chromosomes with super-resolution imaging, contact maps, and integrative modeling. PLoS Genet. 14, e1007872 (2018).
pubmed: 30586358 pmcid: 6324821 doi: 10.1371/journal.pgen.1007872
Lin, D., Bonora, G., Yardimci, G. G. & Noble, W. S. Computational methods for analyzing and modeling genome structure and organization. Wiley Interdiscip. Rev. Syst. Biol. Med. 11, e1435 (2018).
pubmed: 30022617 pmcid: 6294685
Tjong, H. et al. Population-based 3D genome structure analysis reveals driving forces in spatial genome organization. Proc. Natl Acad. Sci. USA 113, E1663–E1672 (2016).
pubmed: 26951677 pmcid: 4812752 doi: 10.1073/pnas.1512577113
Bohn, M. & Heermann, D. W. Diffusion-driven looping provides a consistent provides a consistent framework for chromatin organization. PLoS ONE 5, e12218 (2010).
pubmed: 20811620 pmcid: 2928267 doi: 10.1371/journal.pone.0012218
Barbieri, M. et al. Complexity of chromatin folding is captured by the strings and binders switch model. Proc. Natl Acad. Sci. USA 109, 16173–16178 (2012).
pubmed: 22988072 pmcid: 3479593 doi: 10.1073/pnas.1204799109
Brackley, C. A., Taylor, S., Papantonis, A., Cook, P. R. & Marenduzzo, D. Nonspecific bridging-induced attraction drives clustering of DNA-binding proteins and genome organization. Proc. Natl Acad. Sci. USA 110, E3605–E3611 (2013).
pubmed: 24003126 pmcid: 3780866 doi: 10.1073/pnas.1302950110
Jost, D., Carrivain, P., Cavalli, G. & Vaillant, C. Modeling epigenome folding: formation and dynamics of topologically associated chromatin domains. Nucleic Acids Res. 42, 9553–9561 (2014).
pubmed: 25092923 pmcid: 4150797 doi: 10.1093/nar/gku698
Sanborn, A. L. et al. Chromatin extrusion explains key features of loop and domain formation in wild-type and engineered genomes. Proc. Natl Acad. Sci. USA 112, E6456–E6465 (2015).
pubmed: 26499245 pmcid: 4664323 doi: 10.1073/pnas.1518552112
Fudenberg, G. et al. Formation of chromosomal domains by loop extrusion. Cell Rep. 15, 2038–2049 (2016).
pubmed: 27210764 pmcid: 4889513 doi: 10.1016/j.celrep.2016.04.085
Di Pierro, M., Zhang, B., Aiden, E. L., Wolynes, P. G. & Onuchic, J. N. Transferable model for chromosome architecture. Proc. Natl Acad. Sci. USA 113, 12168–12173 (2016).
pubmed: 27688758 pmcid: 5087044 doi: 10.1073/pnas.1613607113
Buckle, A., Brackley, C. A., Boyle, S., Marenduzzo, D. & Gilbert, N. Polymer simulations of heteromorphic chromatin predict the 3D folding of complex genomic loci. Mol. Cell 72, 786–797 (2018).
pubmed: 30344096 pmcid: 6242782 doi: 10.1016/j.molcel.2018.09.016
Fiorillo, L. et al. A modern challenge of polymer physics: novel ways to study, interpret, and reconstruct chromatin structure. Wiley Interdiscip. Rev. Comput. Mol. Sci. 10, e1454 (2019).
Shi, G., Liu, L., Hyeon, C. & Thirumalai, D. Interphase human chromosome exhibits out of equilibrium glassy dynamics. Nat. Commun. 9, 3161 (2018)..
Nicodemi, M. & Prisco, A. Thermodynamic pathways to genome spatial organization in the cell nucleus. Biophys. J. 96, 2168–2177 (2009).
pubmed: 19289043 pmcid: 2717292 doi: 10.1016/j.bpj.2008.12.3919
Fiorillo, L. et al. Inference of chromosome 3D structures from GAM data by a physics computational approach. Methods 181–182, 70–79 (2020).
pubmed: 31604121 doi: 10.1016/j.ymeth.2019.09.018
Barbieri, M. et al. Active and poised promoter states drive folding of the extended HoxB locus in mouse embryonic stem cells. Nat. Struct. Mol. Biol. 24, 515–524 (2017).
pubmed: 28436944 doi: 10.1038/nsmb.3402
Kragesteen, B. K. et al. Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis. Nat. Genet. 50, 1463–1473 (2018).
pubmed: 30262816 doi: 10.1038/s41588-018-0221-x
Yang, T. et al. HiCRep: assessing the reproducibility of Hi-C data using a stratum-adjusted correlation coefficient. Genome Res. 27, 1939–1949 (2017).
pubmed: 28855260 pmcid: 5668950 doi: 10.1101/gr.220640.117
Dekker, J. et al. The 4D nucleome project. Nature 549, 219–226 (2017).
pubmed: 28905911 pmcid: 5617335 doi: 10.1038/nature23884
Rao, S. S. P. et al. Cohesin loss eliminates all loop domains. Cell 171, 305–320 (2017).
pubmed: 28985562 pmcid: 5846482 doi: 10.1016/j.cell.2017.09.026
Stevens, T. J. et al. 3D structures of individual mammalian genomes studied by single-cell Hi-C. Nature 544, 59–64 (2017).
pubmed: 28289288 pmcid: 5385134 doi: 10.1038/nature21429
Nagano, T. et al. Single-cell Hi-C reveals cell-to-cell variability in chromosome structure. Nature 502, 59–64 (2013).
doi: 10.1038/nature12593 pubmed: 24067610
Nagano, T. et al. Cell-cycle dynamics of chromosomal organization at single-cell resolution. Nature 547, 61–67 (2017).
pubmed: 28682332 pmcid: 5567812 doi: 10.1038/nature23001
Flyamer, I. M. et al. Single-nucleus Hi-C reveals unique chromatin reorganization at oocyte-to-zygote transition. Nature 544, 110–114 (2017).
pubmed: 28355183 pmcid: 5639698 doi: 10.1038/nature21711
Ramani, V. et al. Massively multiplex single-cell Hi-C. Nat. Methods 14, 263–266 (2017).
pubmed: 28135255 pmcid: 5330809 doi: 10.1038/nmeth.4155
Lando, D., Stevens, T. J., Basu, S. & Laue, E. D. Calculation of 3D genome structures for comparison of chromosome conformation capture experiments with microscopy: an evaluation of single-cell Hi-C protocols. Nucleus 9, 190–201 (2018).
pubmed: 29431585 pmcid: 5883084 doi: 10.1080/19491034.2018.1438799
Díaz, N. et al. Chromatin conformation analysis of primary patient tissue using a low input Hi-C method. Nat. Commun. 9, 4938 (2018)..
Plimpton, S. Fast parallel algorithms for short-range molecular dynamics. J. Comput. Phys. 117, 1–19 (1995).
doi: 10.1006/jcph.1995.1039
Kremer, K. & Grest, G. S. Dynamics of entangled linear polymer melts: a molecular-dynamics simulation. J. Chem. Phys. 92, 5057–5086 (1990).
doi: 10.1063/1.458541
Gribnau, J., Hochedlinger, K., Hata, K., Li, E. & Jaenisch, R. Asynchronous replication timing of imprinted loci is independent of DNA methylation, but consistent with differential subnuclear localization. Genes Dev. 17, 759–773 (2003).
pubmed: 12651894 pmcid: 196021 doi: 10.1101/gad.1059603
Rosa, A. & Everaers, R. Structure and dynamics of interphase chromosomes. PLoS Comput. Biol. 4, e1000153 (2008).
pubmed: 18725929 pmcid: 2515109 doi: 10.1371/journal.pcbi.1000153
Bystricky, K., Heun, P., Gehlen, L., Langowski, J. & Gasser, S. M. Long-range compaction and flexibility of interphase chromatin in budding yeast analyzed by high-resolution imaging techniques. Proc. Natl Acad. Sci. USA 101, 16495–16500 (2004).
pubmed: 15545610 pmcid: 534505 doi: 10.1073/pnas.0402766101
Gavrilov, A., Razin, S. V. & Cavalli, G. In vivo formaldehyde cross-linking: it is time for black box analysis. Brief. Funct. Genomics 14, 163–165 (2015).
pubmed: 25241225 doi: 10.1093/bfgp/elu037
Ester, M., Kriegel, H.-P., Sander, J. & Xu, X. A density-based algorithm for discovering clusters in large spatial databases with noise. In Proc. 2nd International Conference on Knowledge Discovery and Data Mining (eds Simoudis, E. et al.) 226–231 (AAAI Press, 1996).
Tahara, M. et al. Cell diameter measurements obtained with a handheld cell counter could be used as a surrogate marker of G2/M arrest and apoptosis in colon cancer cell lines exposed to SN-38. Biochem. Biophys. Res. Commun. 434, 753–759 (2013).
pubmed: 23583407 doi: 10.1016/j.bbrc.2013.03.128
Yang, F. et al. Dielectrophoretic separation of colorectal cancer cells. Biomicrofluidics 4, 13204 (2010).
pubmed: 20644667 doi: 10.1063/1.3279786

Auteurs

Luca Fiorillo (L)

Dipartimento di Fisica, Università di Napoli Federico II and INFN Napoli, Complesso Universitario di Monte Sant'Angelo, Naples, Italy.

Francesco Musella (F)

Dipartimento di Fisica, Università di Napoli Federico II and INFN Napoli, Complesso Universitario di Monte Sant'Angelo, Naples, Italy.

Mattia Conte (M)

Dipartimento di Fisica, Università di Napoli Federico II and INFN Napoli, Complesso Universitario di Monte Sant'Angelo, Naples, Italy.

Rieke Kempfer (R)

Berlin Institute for Medical Systems Biology, Max-Delbrück Centre for Molecular Medicine, Berlin, Germany.
Humboldt-Universität zu Berlin, Berlin, Germany.

Andrea M Chiariello (AM)

Dipartimento di Fisica, Università di Napoli Federico II and INFN Napoli, Complesso Universitario di Monte Sant'Angelo, Naples, Italy.

Simona Bianco (S)

Dipartimento di Fisica, Università di Napoli Federico II and INFN Napoli, Complesso Universitario di Monte Sant'Angelo, Naples, Italy.
Berlin Institute for Medical Systems Biology, Max-Delbrück Centre for Molecular Medicine, Berlin, Germany.

Alexander Kukalev (A)

Berlin Institute for Medical Systems Biology, Max-Delbrück Centre for Molecular Medicine, Berlin, Germany.

Ibai Irastorza-Azcarate (I)

Berlin Institute for Medical Systems Biology, Max-Delbrück Centre for Molecular Medicine, Berlin, Germany.

Andrea Esposito (A)

Dipartimento di Fisica, Università di Napoli Federico II and INFN Napoli, Complesso Universitario di Monte Sant'Angelo, Naples, Italy.

Alex Abraham (A)

Dipartimento di Fisica, Università di Napoli Federico II and INFN Napoli, Complesso Universitario di Monte Sant'Angelo, Naples, Italy.

Antonella Prisco (A)

CNR-IGB, Naples, Italy.

Ana Pombo (A)

Berlin Institute for Medical Systems Biology, Max-Delbrück Centre for Molecular Medicine, Berlin, Germany.
Humboldt-Universität zu Berlin, Berlin, Germany.

Mario Nicodemi (M)

Dipartimento di Fisica, Università di Napoli Federico II and INFN Napoli, Complesso Universitario di Monte Sant'Angelo, Naples, Italy. mario.nicodemi@na.infn.it.
Berlin Institute for Medical Systems Biology, Max-Delbrück Centre for Molecular Medicine, Berlin, Germany. mario.nicodemi@na.infn.it.
Berlin Institute of Health, Berlin, Germany. mario.nicodemi@na.infn.it.

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