Article
Familial cases of point mutations in the XIST promoter reveal a correlation between CTCF binding and pre-emptive choices of X chromosome inactivation.
Human molecular genetics - 1 Apr 2005
Pugacheva Elena M, Tiwari Vijay Kumar, Abdullaev Ziedulla, Vostrov Alexander A, Flanagan Patrick T, Quitschke Wolfgang W, Loukinov Dmitri I, Ohlsson Rolf, Lobanenkov Victor V
Abstract excerpt
The choice mechanisms that determine the future inactive X chromosome in somatic cells of female mammals involve the regulated expression of the XIST gene. A familial C(-43)G mutation in the XIST promoter results in skewing of X chromosome inactivation (XCI) towards the inactive X chromosome of heterozygous females, whereas a C(-43)A mutation found primarily in the active X chromosome results in the opposite...
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