Extended Data Fig. 2: COX7A2L lead cis-eQTL is a 3’UTR insertion that increases mRNA stability.
From: COX7A2L genetic variants determine cardiorespiratory fitness in mice and human
a. rs4181 genotype frequency by population (data from 1000 Genomes Project Phase 3). See also Supplementary Table 4. b. Schematic illustration of the dCAS9-HA COX7A2L promoter tagging experiment. c. Fold enrichment compared to IgG control measured by ChIP-qPCR of the COX7A2L promoter, rs4181_total (primers amplifying both REF and ALT 3’UTR alleles), rs4181_REF (primers amplifying only the REF 3’UTR allele), rs4181_ALT (primers amplifying only the REF 3’UTR allele), or rs7572231, another COX7A2L cis-eQTL located far upstream from rs4181 (n = 3; red = cells transfected with COX7A2L promoter guide vector, black = cells transfected with empty vector (EV)). Data are represented as mean ± SEM.
