A leukemia-protective germline variant mediates chromatin module formation via transcription factor nucleation View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2022-04-19

AUTHORS

Gerard Llimos, Vincent Gardeux, Ute Koch, Judith F. Kribelbauer, Antonina Hafner, Daniel Alpern, Joern Pezoldt, Maria Litovchenko, Julie Russeil, Riccardo Dainese, Riccardo Moia, Abdurraouf Mokhtar Mahmoud, Davide Rossi, Gianluca Gaidano, Christoph Plass, Pavlo Lutsik, Clarissa Gerhauser, Sebastian M. Waszak, Alistair Boettiger, Freddy Radtke, Bart Deplancke

ABSTRACT

Non-coding variants coordinate transcription factor (TF) binding and chromatin mark enrichment changes over regions spanning >100 kb. These molecularly coordinated regions are named “variable chromatin modules” (VCMs), providing a conceptual framework of how regulatory variation might shape complex traits. To better understand the molecular mechanisms underlying VCM formation, here, we mechanistically dissect a VCM-modulating noncoding variant that is associated with reduced chronic lymphocytic leukemia (CLL) predisposition and disease progression. This common, germline variant constitutes a 5-bp indel that controls the activity of an AXIN2 gene-linked VCM by creating a MEF2 binding site, which, upon binding, activates a super-enhancer-like regulatory element. This triggers a large change in TF binding activity and chromatin state at an enhancer cluster spanning >150 kb, coinciding with subtle, long-range chromatin compaction and robust AXIN2 up-regulation. Our results support a model in which the indel acts as an AXIN2 VCM-activating TF nucleation event, which modulates CLL pathology. More... »

PAGES

2042

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41467-022-29625-6

    DOI

    http://dx.doi.org/10.1038/s41467-022-29625-6

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1147209426

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/35440565


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