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X chromosome inactivation in clinical practice

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Abstract

X chromosome inactivation (XCI) is the transcriptional silencing of the majority of genes on one of the two X chromosomes in mammalian females. Females are, therefore, mosaics for two cell lines, one with the maternal X and one with the paternal X as the active chromosome. The relative proportion of the two cell lines, the X inactivation pattern, may be analyzed by simple assays in DNA from available tissues. This review focuses on medical issues related to XCI in X-linked disorders, and on the value of X inactivation analysis in clinical practice.

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Acknowledgments

I am thankful to Trine Prescott for critical reading of the manuscript.

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  1. Department of Medical Genetics, Oslo University Hospital, Rikshospitalet and Faculty Division Rikshospitalet, University of Oslo, Forskningsveien 2B, 0027, Oslo, Norway

    Karen Helene Ørstavik

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  1. Karen Helene Ørstavik
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Correspondence to Karen Helene Ørstavik.

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Ørstavik, K.H. X chromosome inactivation in clinical practice. Hum Genet 126, 363–373 (2009). https://doi.org/10.1007/s00439-009-0670-5

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