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Comparison of PU.1 genomic binding across immune cells reveals cell type-specific roles in autoimmune disease

Lewis, D. A.; Shook, M. S.; Lawson, L. P.; Parameswaran, S.; Chen, X.; Edsall, L. E.; Donmez, O. A.; Yin, C.; Rosado-Tristani, D. A.; VonHandorf, A.; Dexheimer, P. J.; Forney, C. R.; Felton, J. M.; Diouf, A. A.; Dunn, K. A.; Smith, D. F.; Rothenberg, M. E.; Seidman, J. S.; Troutman, T. D.; Glass, C. K.; Waggoner, S. N.; Weirauch, M. T.; Kottyan, L. C.

2026-01-27 genetic and genomic medicine
10.64898/2026.01.26.26344838 medRxiv
Show abstract

Transcription factors play key roles in cellular biology. Their genomic binding events are enriched at disease- and trait-associated genetic risk loci in particular cellular contexts. To examine this phenomenon in depth, we constructed a PU.1 (SPI1) binding atlas by uniformly processing 260 PU.1 ChIP-seq datasets spanning many immune cell types. Comparison of ChIP-seq peaks across eight major immune cell types identifies shared and cell type-specific PU.1 binding events. DNA sequence analyses reveals context-specific binding shaped by both canonical PU.1 motifs and motifs from partner transcription factor families. Integration of this atlas with genome-wide association studies of blood cell traits and immune-mediated diseases reveals strong enrichment for PU.1 binding events at genetic risk loci and extensive genotype-dependent PU.1 genomic occupancy. We identify cellular contexts in which PU.1 enrichment is most pronounced, including at autoimmune disease loci within EBV-positive B cells. Together, these results define cellular, infectious, and genetic contexts of PU.1 binding that help connect noncoding variation to human phenotypes.

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