Fig. 7: Deletion data for rs3777182, rs3777183, and rs3777189 at ELL2 and rs4487645 at CDCA7L.

a Quantitative PCR data showing altered expression relative to control of ELL2 upon dual-sgRNA CRISPR/Cas9 deletion of a 141-bp region harboring rs3777182 and rs3777183 in RPMI-8226 cells, which are heterozygous the rs3777189, rs3777182, and rs3777183 variants. The agarose gel below confirms the deletion of the CRISPR/Cas9-targeted region. b Corresponding data for an 89-bp region harboring rs3777189. c Corresponding data for a 76-bp region harboring rs4487645 in OPM2 cells, which are homozygous for the rs4487645-C variant. The P values are for the two-sided Student’s t-test. Blue bars in (a) through (c) indicate the averages of the individual measurements. d We successfully edited rs4487645[C > A] in L363 cells using CRISPR-HDR. We generated six C-homozygous, three C/A heterozygous, and six A-homozygous single-cell clones. Consistent with the other data for rs4487645, we detected an association between CRISPR-edited rs4487645 genotype and CDCA7L expression, with the C allele yielding higher expression, further supporting causality. The y-axis indicates residual CDCA7L expression qPCR expression value in L363 cells, taking into account the CDCA7L copy number in each single-cell clone. The bottom, middle, and top of each box plot represent the 25th, 50th, and 75th percentiles. The whiskers represent the non-outlier minimum and maximum values, located at 1.5 times the interquartile range from the bottom and top of the box, respectively. The P value is for correlation between edited genotype and CDCA7L expression, taking CDCA7L DNA copy number into account as a covariate.