Shared eQTL-genes regulated by independent regulatory variants in females (F) and males (M). (A) In CEU, rs6025625 (CEU F) and rs3787152 (CEU M), mapping within 760 kb of each other, are associated with SPO11 expression levels. SPO11 is essential for meiotic recombination, and both F and M knockout mice are infertile. (B) In JPT, rs2271025 (JPT F) and rs3826161 (JPT M) (r2 = 0.26, D′ = 0.64) are eQTLs for CKLF, a gene encoding a chemokine, with a role in muscle development and neuronal migration. (C) In JPT, rs11734984 (JPT F) and rs10020189 (JPT M), mapping within 580 kb of each other, are eQTLs for MRFAP1L1, a gene that is likely to have a role in spermatogenesis through its interaction with TSNAX. (D) In YRI, rs506733 (YRI F) and rs12097932 (YRI M) (r2 = 0.00, D′ = 0.09) are eQTLs for ODF2L, a gene thought to have a role in ovulation through its interaction with PRSS23. (E) In YRI, rs877663 (YRI F) and rs730722 (YRI M) (r2 = 0.04, D′ = 0.43) are eQTLs for PSAP, a gene encoding a conserved glycoprotein involved in the development of the reproductive and nervous systems that has been linked to prostate cancer. Boxes indicate eQTL-genes. r2 and D′ calculated for SNPs within 500 kb of each other. Figures were made using the UCSC Genome Browser (http://genome.ucsc.edu) (Kent et al. 2002).
