Figure 9.

Investigation of escape of CYBB from XCI in human pDCs

Unstimulated pDCs derived from frozen PBMCs of one female individual are displayed. Each dot represents one single cell. Blue circles are pDCs with monoallelic expression of the major allele, orange dots are pDCs with monoallelic expression of the minor allele, and green circles represent pDCs with biallelic expression (major and minor allele) in the same cell, reflecting escape from XCI. Black circles represent cells without any detectable mRNA. Percentages were calculated using all cells with detectable mRNA. Expression patterns were determined using the SNP rs5964151 in CYBB.

(A) SNP typing of the mRNA of one female homozygous for the major allele of the SNP rs5964151 in CYBB.

(B) SNP typing of the mRNA of one female heterozygous for the SNP rs5964151, demonstrating escape of CYBB from XCI.