Systems (epi)genetics to study the basis of complex traits and diseases
Preprints & Media Coverage
Preprints:
Daga N, H. Servaas N, Kisand K, Moonen D, Arnold C, Reyes-Palomares A, Kaleviste E, Kingo K, Kuuse R, Ulst K, Steinmetz L, Peterson P, Nakic N, Zaugg JB (2024). Integration of genetic and epigenetic data pinpoints autoimmune specific remodelling of enhancer landscape in CD4+ T cells. BioRxiv
Lobato-Moreno S, Yildiz U, Claringbould A, Servaas N, Vlachou E, Arnold C, Bauersachs H, Campos-Fornes V, Prummel K, Noh K, Marttinen M, Zaugg JB (2023). Scalable ultra-high-throughput single-cell chromatin and RNA sequencing reveals gene regulatory dynamics linking macrophage polarization to autoimmune disease. BioRxiv
Lai MC, Ruiz-Velasco M, Arnold C, Sigalova O, Bunina D, Berest I, Ding X, Hennrich ML, Poisa-Beiro L, Claringbould A, Mathioudaki A, Pabst C, Ho AD, Gavin A-C & Zaugg JB (2021) Enhancer-priming in ageing human bone marrow mesenchymal stromal cells contributes to immune traits. BioRxiv
Bunina D+, Germain P-L, Lopez Tobon A, Fernandez-Novel Marx N, Arnold C, Ó hEachteirn A, Claringbould A, Lai MC, Rangasamy S, Narayanan V, Testa G, Zaugg JB+ & Noh K-M+ (2021) Pathological LSD1 mutations cause HDAC-mediated aberrant gene repression during early cell differentiation. BioRxiv.
Data used in the study (gene-specific features) are available here
Grubert F, Srivas R, Spacek DV, Kasowski M, Ruiz-Velasco M, Sinnott-Armstrong N, Greenside P, Narasimha A, Liu Q, Geller B, Sanghi A, Kulik M, Sa S, Rabinovitch M, Kundaje A, Dalton S, Zaugg JB, Snyder M. Landscape of cohesin-mediated chromatin loops in the human genome. Nature 583(7818):737-743.
Bunina D, Abazova N, Diaz N, Noh K-M+, Krijgsveld J+, Zaugg JB+ (2020): Genomic Rewiring of SOX2 Chromatin Interaction Network during Differentiation of ESCs to Postmitotic Neurons. Cell Systems 10, 6 (2020) 459-460
Reyes-Palomares A, Gu M, Grubert F, Berest I, Sa S, Kasowski M, Arnold C, Shuai M, Srivas R, Miao S, Li D, Snyder MP, Rabinovitch M & Judith Zaugg JB (2020). Remodeling of active endothelial enhancers is associated with aberrant gene-regulatory networks in pulmonary arterial hypertension. Nat Commun 11, 1673 (2020). https://doi.org/10.1038/s41467-020-15463-x
Ruiz-Velasco M, Kumar M*, Lai ML*, Bhat P, Solis-Pinson AB, Reyes A, Kleinsorg A, Noh K-M, Gibson TJ, Zaugg JB (2017). CTCF-Mediated Chromatin Loops between Promoter and Gene Body Regulate Alternative Splicing across Individuals. Cell Systems Volume 5 , Issue 6 , 628 – 637.e6 ; link to download the pdf
Grubert F*, Zaugg JB*, Kasowski M*, Ursu O*, et al. (2015) Genetic Control of Chromatin States in Humans Involves Local and Distal Chromosomal Interactions.Cell. 162 (5): 1051-1065
Kotte O, Zaugg JB, Heinemann M. (2010) Bacterial adaptation through distributed sensing of metabolic fluxes. Mol Syst Biol 6: 355.
Hoskins AA, Morar M, Kappock TJ, Mathews II, Zaugg JB, Barder TE, Peng P, Okamoto A, Ealick SE, Stubbe J. (2007) N5-CAIR mutase: role of a CO2 binding site and substrate movement in catalysis. Biochemistry 46(10):2842-55.