A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation

@article{Plenge1997APM,
  title={A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation},
  author={Robert M. Plenge and Brian D. Hendrich and Charles Schwartz and J. Fernando Arena and Anna K Naumova and Carmen Sapienza and Robin Winter and Huntington F. Willard},
  journal={Nature Genetics},
  year={1997},
  volume={17},
  pages={353-356}
}
X-chromosome inactivation is the process by which a cell recognizes the presence of two copies of an X chromosome early in the development of XX embryos and chooses one to be active and one to be inactive1. Although it is commonly believed that the initiation of X inactivation is random, with an equal probability (50:50) that either X chromosome will be the inactive X in a given cell, significant variation in the proportion of cells with either X inactive is observed both in mice heterozygous… CONTINUE READING

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