hrp0092p1-140 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Methylation Status of X Inactivation-Escape Genes in Controls and Females with X Chromosome Rearrangements

Kawashima Sayaka , Matsubara Keiko , Toki Machiko , Kosaki Rika , Hasegawa Yukihiro , Fukami Maki , Kagami Masayo

Context: X chromosome inactivation (XCI) is a process in which one of the two X chromosomes in a female is randomly inactivated in order to correct gene dosage between males and females. However, about 15% of genes escape from XCI (termed escapees), and 10% of genes are variably inactivated (variable genes). The mechanism of inactivation and escape remains to be revealed. The promoter regions of escapees are hypomethylated compared to those of the inac...