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Hum Genet. 2011 Aug;130(2):217-22. doi: 10.1007/s00439-011-1038-1. Epub 2011 Jun 16.

X chromosome inactivation in human and mouse pluripotent stem cells.

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Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, 695 Charles Young Drive South, Los Angeles, CA 90095, USA.


Since the groundbreaking hypothesis of X chromosome inactivation (XCI) proposed by Mary Lyon over 50 years ago, a great amount of knowledge has been gained regarding this essential dosage compensation mechanism in female cells. For the mammalian system, most of the mechanistic studies of XCI have so far been investigated in the mouse model system, but recently, a number of interesting XCI studies have been extended to human pluripotent stem cells, including both embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs). Emerging data indicate that XCI in hESCs and hiPSCs is much more complicated than that of their mouse counterparts. XCI in human pluripotent stem cells is not as stable and is subject to environmental influences and epigenetic regulation in vitro. This mini-review highlights the key differences in XCI between mouse and human stem cells with a greater emphasis placed on the understanding of the epigenetic regulation of XCI in human stem cells.

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