2026

An integrated view of the structure and function of the human 4D nucleome
Dekker, J., Oksuz, B. A., Zhang, Y., Wang, Y., Minsk, M. K., Kuang, S., Yang, L., et al.
Nature · 649(8097), 759–776 · 2026
Haplotype-resolved genome architecture mapping uncovers pervasive structural heterogeneity between human homologous chromosomes
Markowski, J., Kukalev, A., Robens, C., Thieme, C. J., Streck, A., Mao, H., Parsi, K. M., Maehr, R., Pombo, A., Schwarz, R. F.
bioRxiv · 2026
Stem cell differentiation disperses transcriptional clusters via a conserved surface-condensate trajectory
Klingberg, T., Wachter, I., Pancholi, A., Akyel, M., Gohar, Y., Kumar, P., et al., Fernandes, A. M., et al., Ferrai, C., Hilbert, L.
Advanced Science · 2026
Extrachromosomal DNA micronucleation constrains tumour fitness and improves patient survival
Brückner, L., Xu, R., Tang, J., Gnanasekar, A., Herrmann, A., Wong, I. T. L., et al., Kukalev, A., et al., Herzog, S., et al., Pombo, A., et al., Henssen, A. G.
bioRxiv · 2026

2025

Specialised super-enhancer networks in stem cells and neurons
Harabula, I., Speakman, L., Musella, F., Forillo, L., Zea-Redondo, L., Kukalev, A., Beagrie, R. A., Morris, K. J., Fernandes, L., Irastorza-Azcarate, I., Fernandes, A. M., Carvalho, S., Szabó, D., Ferrai, C., Nicodemi, M., Welch, L., Pombo, A.
bioRxiv · 2025
Cryosectioning-enhanced super-resolution microscopy for single-protein imaging across cells and tissues
Stein, J., Ericsson, M., Nofal, M., Magni, L., Aufmkolk, S., McMillan, R. B., et al.
Proceedings of the National Academy of Sciences · 122(32), e2504578122 · 2025
FeaturedExtensive folding variability between homologous chromosomes in mammalian cells
Irastorza-Azcarate, I., Kukalev, A., Kempfer, R., Thieme, C. J., Mastrobuoni, G., et al.
Molecular Systems Biology · 21(7), 735–775 · 2025
Loss of structural specificity in 3D genome organization upon viral infection is predicted by polymer physics
Fontana, A., Bianco, S., Tafuri, F., Esposito, A., Abraham, A., Conte, M., et al., Chiariello, A. M.
Journal of Chemical Physics · 2025

2024

SRRM2 splicing factor modulates cell fate in early development
Carvalho, S., Zea-Redondo, L., Tang, T. C. C., Stachel-Braum, P., Miller, D., et al.
Biology Open · 13(4), bio060415 · 2024
Epigenetic regulatory layers in the three-dimensional nucleus
Willemin, A., Szabó, D., Pombo, A.
Molecular Cell · 84(3), 415–428 · 2024
A single dose of cocaine rewires the 3D genome structure of midbrain dopamine neurons
Szabó, D., Franke, V., Bianco, S., Batiuk, M. Y., Paul, E. J., Kukalev, A., Pfisterer, U. G., Irastorza-Azcarate, I., Chiariello, A. M., Demharter, S., Zea-Redondo, L., Lopez-Atalaya, J. P., Nicodemi, M., Akalin, A., Khodosevich, K., Ungless, M. A., Winick-Ng, W., Pombo, A.
bioRxiv · 2024
Transient stabilization of human cardiovascular progenitor cells from human pluripotent stem cells in vitro reflects stage-specific heart development in vivo
Bolesani, E., Bornhorst, D., Iyer, L. I., Zawada, D., Friese, N., Morgan, M., et al., Zweigerdt, R.
Cardiovascular Research · 2024
Multiscale modelling of chromatin 4D organization in SARS-CoV-2 infected cells
Chiariello, A. M., Abraham, A., Bianco, S., Esposito, A., Fontana, A., Vercellone, F., Conte, M., Nicodemi, M.
Nature Communications · 2024

2023

Research briefing
Thieme, C. J., Pombo, A.
Nature Methods · 20, 993–994 · 2023
FeaturedMultiplex-GAM: genome-wide identification of chromatin contacts yields insights overlooked by Hi-C
Beagrie, R. A., Thieme, C. J., Annunziatella, C., Baugher, C., Zhang, Y., et al.
Nature Methods · 20(7), 1037–1047 · 2023
Mechanisms of enhancer function in neuronal systems in health and disease
Zea-Redondo, L., Pombo, A.
Current Opinion in Systems Biology · 32, 100443 · 2023

2022

A noncoding single-nucleotide polymorphism at 8q24 drives IDH1-mutant glioma formation
Yanchus, C., Drucker, K. L., Kollmeyer, T. M., Tsai, R., Winick-Ng, W., Liang, M., et al.
Science · 378(6615), 68–78 · 2022
Single-cell-resolved dynamics of chromatin architecture delineate cell and regulatory states in zebrafish embryos
McGarvey, A. C., Kopp, W., Vučićević, D., Mattonet, K., Kempfer, R., Hirsekorn, A., et al.
Cell Genomics · 2(1) · 2022
Altered nuclear architecture in blood cells from Huntington’s disease patients
de Castro, I. J., Toner, B., Xie, S. Q., Swingland, J., Hodges, A., Tabrizi, S. J., et al.
Neurological Sciences · 43(1), 379–385 · 2022

2021

GAMIBHEAR: whole-genome haplotype reconstruction from Genome Architecture Mapping data
Markowski, J., Kempfer, R., Kukalev, A., Irastorza-Azcarate, I., Loof, G., Kehr, B., et al.
Bioinformatics · 37(19), 3128–3135 · 2021
Cell-type specialization is encoded by specific chromatin topologies
Winick-Ng, W., Kukalev, A., Harabula, I., Zea-Redondo, L., Szabó, D., Meijer, M., et al.
Nature · 599(7886), 684–691 · 2021
Comparison of the Hi-C, GAM and SPRITE methods using polymer models of chromatin
Fiorillo, L., Musella, F., Conte, M., Kempfer, R., Chiariello, A. M., Bianco, S., et al.
Nature Methods · 18(5), 482–490 · 2021
The dynamics of chromatin architecture in brain development and function
Harabula, I., Pombo, A.
Current Opinion in Genetics & Development · 67, 84–93 · 2021

2020

LifeTime and improving European healthcare through cell-based interceptive medicine
Rajewsky, N., Almouzni, G., Gorski, S. A., Aerts, S., Amit, I., Bertero, M. G., Bock, C., et al.
Nature · 587(7834), 377–386 · 2020
Inference of chromosome 3D structures from GAM data by a physics computational approach
Fiorillo, L., Bianco, S., Chiariello, A. M., Barbieri, M., Esposito, A., et al.
Methods · 181, 70–79 · 2020
Evolving methodologies and concepts in 4D nucleome research
Sparks, T. M., Harabula, I., Pombo, A.
Current Opinion in Cell Biology · 64, 105–111 · 2020
Methods for mapping 3D chromosome architecture
Kempfer, R., Pombo, A.
Nature Reviews Genetics · 21(4), 207–226 · 2020

2019

Editorial overview: Genome architecture and expression
Bickmore, W., Pombo, A.
Current Opinion in Genetics and Development · 55, iii–iv · 2019
R-loops enhance polycomb repression at a subset of developmental regulator genes
Skourti-Stathaki, K., Triglia, E. T., Warburton, M., Voigt, P., Bird, A., Pombo, A.
Molecular Cell · 73(5), 930–945.e4 · 2019

2018

Challenges and guidelines toward 4D nucleome data and model standards
Marti-Renom, M. A., Almouzni, G., Bickmore, W. A., Bystricky, K., Cavalli, G., et al.
Nature Genetics · 50(10), 1352–1358 · 2018
Polymer physics predicts the effects of structural variants on chromatin architecture
Bianco, S., Lupiáñez, D. G., Chiariello, A. M., Annunziatella, C., Kraft, K., et al.
Nature Genetics · 50(5), 662–667 · 2018

2017

RNA polymerase II primes Polycomb-repressed developmental genes throughout terminal neuronal differentiation
Ferrai, C., Triglia, E. T., Risner-Janiczek, J. R., Rito, T., Rackham, O. J. L., et al.
Molecular Systems Biology · 13(10), MSB177754 · 2017
FANTOM5 CAGE profiles of human and mouse samples
Noguchi, S., Arakawa, T., Fukuda, S., Furuno, M., Hasegawa, A., Hori, F., et al.
Scientific Data · 4(1), 170112 · 2017
Cell cycle: Continuous chromatin changes
Beagrie, R. A., Pombo, A.
Nature · 547(7661), 34 · 2017
Flipping between Polycomb repressed and active transcriptional states introduces noise in gene expression
Kar, G., Kim, J. K., Kolodziejczyk, A. A., Natarajan, K. N., Triglia, E. T., Mifsud, B., et al.
Nature Communications · 8(1), 36 · 2017
Active and poised promoter states drive folding of the extended HoxB locus in mouse embryonic stem cells
Barbieri, M., Xie, S. Q., Triglia, E. T., Chiariello, A. M., Bianco, S., de Santiago, I., et al.
Nature Structural & Molecular Biology · 24(6), 515–524 · 2017
Keep them close: PRC2 poises enhancer-promoter interactions at anterior neuronal genes
Caglio, G., Triglia, E. T., Pombo, A.
Cell Stem Cell · 20(5), 573–575 · 2017
Maternal immune activation results in complex microglial transcriptome signature in the adult offspring that is reversed by minocycline treatment
Mattei, D., Ivanov, A., Ferrai, C., Jordan, P., Guneykaya, D., Buonfiglioli, A., et al.
Translational Psychiatry · 7(5), e1120 · 2017
FeaturedComplex multi-enhancer contacts captured by genome architecture mapping
Beagrie, R. A., Scialdone, A., Schueler, M., Kraemer, D. C. A., Chotalia, M., Xie, S. Q., et al.
Nature · 543(7646), 519–524 · 2017
A finer print than TADs: PRC1-mediated domains
Triglia, E. T., Rito, T., Pombo, A.
Molecular Cell · 65(3), 373–375 · 2017

2016

Examining topological domain influence on enhancer function
Beagrie, R. A., Pombo, A.
Developmental Cell · 39(5), 523–524 · 2016
Formation of new chromatin domains determines pathogenicity of genomic duplications
Franke, M., Ibrahim, D. M., Andrey, G., Schwarzer, W., Heinrich, V., Schöpflin, R., et al.
Nature · 538(7624), 265–269 · 2016
Gene activation by metazoan enhancers: diverse mechanisms stimulate distinct steps of transcription
Beagrie, R. A., Pombo, A.
BioEssays · 38(9), 881–893 · 2016
Mechanical regulation of transcription controls Polycomb-mediated gene silencing during lineage commitment
Le, H. Q., Ghatak, S., Yeung, C. Y. C., Tellkamp, F., Günschmann, C., Dieterich, C., et al.
Nature Cell Biology · 18(8), 864–875 · 2016

2015

Methylation of RNA polymerase II non-consensus Lysine residues marks early transcription in mammalian cells
Dias, J. D., Rito, T., Triglia, E. T., Kukalev, A., Ferrai, C., Chotalia, M., et al.
eLife · 4, e11215 · 2015
Hierarchical folding and reorganization of chromosomes are linked to transcriptional changes in cellular differentiation
Fraser, J., Ferrai, C., Chiariello, A. M., Schueler, M., Rito, T., Laudanno, G., et al.
Molecular Systems Biology · 11(12), MSB156492 · 2015
Polymer models of the organization of chromosomes in the nucleus of cells
Chiariello, A. M., Bianco, S., Piccolo, A., Annunziatella, C., Barbieri, M., Pombo, A., et al.
Modern Physics Letters B · 29(09), 1530003 · 2015
Three-dimensional genome architecture: players and mechanisms
Pombo, A., Dillon, N.
Nature Reviews Molecular Cell Biology · 16(4), 245–257 · 2015
Transcribed enhancers lead waves of coordinated transcription in transitioning mammalian cells
Arner, E., Daub, C. O., Vitting-Seerup, K., Andersson, R., Lilje, B., Drabløs, F., et al.
Science · 347(6225), 1010–1014 · 2015

2014

Stem cell epigenetics: looking forward
Benitah, S. A., Bracken, A., Dou, Y., Huangfu, D., Ivanova, N., Koseki, H., et al.
Cell Stem Cell · 14(6), 706–709 · 2014
Models of chromosome structure
Nicodemi, M., Pombo, A.
Current Opinion in Cell Biology · 28, 90–95 · 2014
Physical mechanisms behind the large scale features of chromatin organization
Pombo, A., Nicodemi, M.
Transcription · 5(2), e28447 · 2014
An H3K9/S10 methyl-phospho switch modulates Polycomb and Pol II binding at repressed genes during differentiation
Sabbattini, P., Sjoberg, M., Nikic, S., Frangini, A., Holmqvist, P. H., Kunowska, N., et al.
Molecular Biology of the Cell · 25(6), 904–915 · 2014

2013

Polymer physics, scaling and heterogeneity in the spatial organisation of chromosomes in the cell nucleus
Barbieri, M., Scialdone, A., Gamba, A., Pombo, A., Nicodemi, M.
Soft Matter · 9(36), 8631–8635 · 2013
A polymer model explains the complexity of large-scale chromatin folding
Barbieri, M., Fraser, J., Lavitas, L. M., Chotalia, M., Dostie, J., Pombo, A., et al.
Nucleus · 4(4), 267–273 · 2013
Polymer models of chromatin organization
Barbieri, M., Scialdone, A., Piccolo, A., Chiariello, A. M., di Lanno, C., Prisco, A., et al.
Frontiers in Genetics · 4, 113 · 2013
A model of the large-scale organization of chromatin
Barbieri, M., Chotalia, M., Fraser, J., Lavitas, L. M., Dostie, J., Pombo, A., et al.
Biochemical Society Transactions · 41(2), 508–512 · 2013

2012

Mean expression of the X-chromosome is associated with neuronal density
Swingland, J. T., Durrenberger, P. F., Reynolds, R., Dexter, D. T., Pombo, A., et al.
Frontiers in Neuroscience · 6, 161 · 2012
Complexity of chromatin folding is captured by the strings and binders switch model
Barbieri, M., Chotalia, M., Fraser, J., Lavitas, L. M., Dostie, J., Pombo, A., et al.
Proceedings of the National Academy of Sciences · 109(40), 16173–16178 · 2012
Proteomic analysis of mitotic RNA polymerase II reveals novel interactors and association with proteins dysfunctional in disease
Möller, A., Xie, S. Q., Hosp, F., Lang, B., Phatnani, H. P., James, S., Ramirez, F., et al.
Molecular & Cellular Proteomics · 11(6) · 2012
Code breaking: the RNAPII modification code in pluripotency
Brookes, E., Pombo, A.
Cell Cycle · 11(7), 1267–1268 · 2012
Polycomb associates genome-wide with a specific RNA polymerase II variant, and regulates metabolic genes in ESCs
Brookes, E., de Santiago, I., Hebenstreit, D., Morris, K. J., Carroll, T., Xie, S. Q., et al.
Cell Stem Cell · 10(2), 157–170 · 2012

2011

Polycomb targets seek closest neighbours
Chotalia, M., Pombo, A.
PLoS Genetics · 7(3), e1002031 · 2011
Nuclear cell biology
Pombo, A., Starr, D. A.
Molecular Biology of the Cell · 22(6), 722–722 · 2011

2010

Ring1B and Suv39h1 delineate distinct chromatin states at bivalent genes during early mouse lineage commitment
Alder, O., Lavial, F., Helness, A., Brookes, E., Pinho, S., Chandrashekran, A., et al.
Development · 137(15), 2483–2492 · 2010
Short RNAs are transcribed from repressed polycomb target genes and interact with polycomb repressive complex-2
Kanhere, A., Viiri, K., Araújo, C. C., Rasaiyaah, J., Bouwman, R. D., Whyte, W. A., et al.
Molecular Cell · 38(5), 675–688 · 2010
Gene positioning
Ferrai, C., de Castro, I. J., Lavitas, L., Chotalia, M., Pombo, A.
Cold Spring Harbor Perspectives in Biology · 2(6), a000588 · 2010
Jarid2 is a PRC2 component in embryonic stem cells required for multi-lineage differentiation and recruitment of PRC1 and RNA Polymerase II to developmental regulators
Landeira, D., Sauer, S., Poot, R., Dvorkina, M., Mazzarella, L., Jørgensen, H. F., et al.
Nature Cell Biology · 12(6), 618–624 · 2010
Nucleus and gene expression: the structure and function conundrum
Pombo, A., Gilbert, D. M.
Current Opinion in Cell Biology · 22(3), 269–270 · 2010
Poised transcription factories prime silent uPA gene prior to activation
Ferrai, C., Xie, S. Q., Luraghi, P., Munari, D., Ramirez, F., Branco, M. R., Pombo, A., et al.
PLoS Biology · 8(1), e1000270 · 2010
Nuclear architecture in stem cells
Morris, K. J., Chotalia, M., Pombo, A.
Advances in Experimental Medicine and Biology · 695, 14–25 · 2010
Measurement of replication structures at the nanometer scale using super-resolution light microscopy
Baddeley, D., Chagin, V. O., Schermelleh, L., Martin, S., Pombo, A., Carlton, P. M., et al.
Nucleic Acids Research · 38(2), e8 · 2010

2009

The molecular basis for stability of heterochromatin-mediated silencing in mammals
Hiragami-Hamada, K., Xie, S. Q., Saveliev, A., Uribe-Lewis, S., Pombo, A., et al.
Epigenetics & Chromatin · 2(1), 14 · 2009
Modifications of RNA polymerase II are pivotal in regulating gene expression states
Brookes, E., Pombo, A.
EMBO Reports · 10(11), 1213 · 2009
3D chromatin regulation of Sonic hedgehog in the limb buds
Ferrai, C., Pombo, A.
Developmental Cell · 16(1), 9–11 · 2009
Mechanisms regulating S phase progression in mammalian cells
Maya-Mendoza, A., Tang, C. W., Pombo, A., Jackson, D. A.
Frontiers in Bioscience · 14(11), 4199–4213 · 2009

2008

Eukaryotic gene regulation in three dimensions and its impact on genome evolution
Babu, M. M., Janga, S. C., de Santiago, I., Pombo, A.
Current Opinion in Genetics & Development · 18(6), 571–582 · 2008
Changes in chromosome organization during PHA-activation of resting human lymphocytes measured by cryo-FISH
Branco, M. R., Branco, T., Ramirez, F., Pombo, A.
Chromosome Research · 16(3), 413–426 · 2008
Transcription and chromatin organization of a housekeeping gene cluster containing an integrated β-globin locus control region
Noordermeer, D., Branco, M. R., Splinter, E., Klous, P., van IJcken, W., et al.
PLoS Genetics · 4(3), e1000016 · 2008

2007

Ring1-mediated ubiquitination of H2A restrains poised RNA polymerase II at bivalent genes in mouse ES cells
Stock, J. K., Giadrossi, S., Casanova, M., Brookes, E., Vidal, M., Koseki, H., et al.
Nature Cell Biology · 9(12), 1428–1435 · 2007
Functional organisation of the genome during interphase
Pombo, A., Branco, M. R.
Current Opinion in Genetics & Development · 17(5), 451–455 · 2007
Advances in imaging the interphase nucleus using thin cryosections
Pombo, A.
Histochemistry and Cell Biology · 128(2), 97–104 · 2007
Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular dystrophy
Piercy, R. J., Zhou, H., Feng, L., Pombo, A., Muntoni, F., Brown, S. C.
Neuromuscular Disorders · 17(4), 297–305 · 2007
Chromosome organization: new facts, new models
Branco, M. R., Pombo, A.
Trends in Cell Biology · 17(3), 127–134 · 2007

2006

Intermingling of chromosome territories in interphase suggests role in translocations and transcription-dependent associations
Branco, M. R., Pombo, A.
PLoS Biology · 4(5), e138 · 2006
Splicing speckles are not reservoirs of RNA polymerase II, but contain an inactive form, phosphorylated on Serine2 residues of the C-terminal domain
Xie, S. Q., Martin, S., Guillot, P. V., Bentley, D. L., Pombo, A.
Molecular Biology of the Cell · 17(4), 1723–1733 · 2006
Distribution of different phosphorylated forms of RNA polymerase II in relation to Cajal and PML bodies in human cells: an ultrastructural study
Xie, S. Q., Pombo, A.
Histochemistry and Cell Biology · 125(1), 21–31 · 2006

2005

Variant histone H3.3 marks promoters of transcriptionally active genes during mammalian cell division
Chow, C. M., Georgiou, A., Szutorisz, H., Maia e Silva, A., Pombo, A., Barahona, I., et al.
EMBO Reports · 6(4), 354 · 2005
Functional analysis of Vif protein shows less restriction of human immunodeficiency virus type 2 by APOBEC3G
Ribeiro, A. C., Maia e Silva, A., Santa-Marta, M., Pombo, A., Moniz-Pereira, J., et al.
Journal of Virology · 79(2), 823–833 · 2005

2004

CD8α is an activation marker for a subset of peripheral CD4 T cells
Kenny, E., Mason, D., Saoudi, A., Pombo, A., Ramírez, F.
European Journal of Immunology · 34(5), 1262–1271 · 2004
Fixation-induced redistribution of hyperphosphorylated RNA polymerase II in the nucleus of human cells
Guillot, P. V., Xie, S. Q., Hollinshead, M., Pombo, A.
Experimental Cell Research · 295(2), 460–468 · 2004
Measuring the size of biological nanostructures with spatially modulated illumination microscopy
Martin, S., Failla, A. V., Spori, U., Cremer, C., Pombo, A.
Molecular Biology of the Cell · 15(5), 2449–2455 · 2004

2003

Interaction of proteins with promoter elements of the human U2 snRNA genes in vivo
Boyd, D. C., Pombo, A., Murphy, S.
Gene · 315, 103–112 · 2003
Transcription factories: quantitative studies of nanostructures in the mammalian nucleus
Martin, S., Pombo, A.
Chromosome Research · 11(5), 461–470 · 2003
Genome function and nuclear architecture: from gene expression to nanoscience
O'Brien, T. P., Bult, C. J., Cremer, C., Grunze, M., Knowles, B. B., Langowski, J., et al.
Genome Research · 13(6a), 1029–1041 · 2003
From linear genome sequence to three-dimensional organization of the cell nucleus
Politz, J., van Driel, R., Sauer, M., Pombo, A.
Genome Biology · 4(3), 310 · 2003
Cellular genomics: which genes are transcribed, when and where?
Pombo, A.
Trends in Biochemical Sciences · 28(1), 6–9 · 2003
Genomics meets nanoscience: probing genes and the cell nucleus at 10−9 meters
Politz, J., Pombo, A.
Genome Biology · 3(3), reports4007.1 · 2003