Jacob W. Freimer

May 29, 2024 | nature.com | Jacob W. Freimer |Salvador Casaní-Galdón |Maya M. Arce |Bence Daniel |Katalin Sandor |Ralf Schmidt | +3 more

AbstractCis-regulatory elements (CREs) interact with trans regulators to orchestrate gene expression, but how transcriptional regulation is coordinated in multi-gene loci has not been experimentally defined. We sought to characterize the CREs controlling dynamic expression of the adjacent costimulatory genes CD28, CTLA4 and ICOS, encoding regulators of T cell-mediated immunity.

Sep 17, 2023 | biorxiv.org | Joshua Weinstock |Maya M. Arce |Jacob W. Freimer |Mineto Ota

AbstractThe effects of genetic variation on complex traits act mainly through changes in gene regulation. Although many genetic variants have been linked to target genes in cis, the trans-regulatory cascade mediating their effects remains largely uncharacterized. Mapping trans-regulators based on natural genetic variation, including eQTL mapping, has been challenging due to small effects. Experimental perturbation approaches offer a complementary and powerful approach to mapping trans-regulators.