Female eutherians silence one of their X chromosomes to accomplish an equal dose of X-linked gene expression compared with males. The mouse is the most widely used animal model in XCI research and has proven to be of great significance for understanding the complex mechanism of X-linked dosage compensation. Although the basic principles of XCI are similar in mouse and humans, differences exist in the timing of XCI initiation, the genetic elements involved in XCI regulation and the form of XCI in specific tissues. Therefore, the mouse has its limitations as a model to understand early human XCI and analysis of human tissues is required. In this review, we describe these differences with respect to initiation of XCI in human and mouse preimplantation embryos, the extra-embryonic tissues and the in vitro model of the epiblast: the embryonic stem cells.

dx.doi.org/10.1007/s00439-011-1014-9, hdl.handle.net/1765/24032
Human Genetics
Erasmus MC: University Medical Center Rotterdam

van den Berg, I.M, Galjaard, R-J.H, Laven, J.S.E, & van Doorninck, J.H. (2011). XCI in preimplantation mouse and human embryos: first there is remodelling.. Human Genetics, 130(2), 203–215. doi:10.1007/s00439-011-1014-9