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It is random chance that determines which of the two X chromosomes is inactivated and which will remain active leading to a mosaic of cells with opposite XCI patterns that can be observed in all female tissues.

For experimentally investigating the regulation and mechanism of XCI, a large number of studies have used mice as a simple mammalian model species.

Molecularly, the process of XCI involves several steps: counting the number of X chromosomes per nucleus, choice of the future Xi, initiation of chromosome-wide silencing, and maintenance of Xi repression in a stable manner.

XCI is initiated by a specific control region, the X-inactivation center (Xic) that is located on the mouse and human X chromosomes at XD (46.12 c M) and Xq13.2, respectively (refer Augui et al and references therein).

A second wave then leads to random inactivation of the paternally or maternally inherited X in cells of the developing epiblast around embryonic day 6.5.Once XCI is initiated, the Xi is maintained through subsequent cell divisions resulting in a mosaic pattern in tissues.Although imprinted XCI is not observed in humans (and appears restricted to a minority of mammalian species), other aspects of XCI appear well conserved throughout mammals suggesting that insights obtained from mouse models are useful for extrapolation to other mammals, although with caution.Taken together, these findings suggest that aspects of XCI are relevant for a large number of human diseases.Here we review basic and clinical research on XCI with the aim of illustrating connections and highlighting opportunities for future investigation.

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Accepted for publication 5 March 2015 Published Volume 2015:5 Pages 227—238 DOI https://doi.org/10.2147/AGG.

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