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X-inactivation, imprinting, and long noncoding RNAs in health and disease.

Author information

Affiliations

  • 1. Howard Hughes Medical Institute, Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA.
      Authors
    • Lee JT 1
    (1 author)

Cell, 01 Mar 2013, 152(6):1308-1323
https://doi.org/10.1016/j.cell.2013.02.016 PMID: 23498939 

Review

Abstract 

X chromosome inactivation and genomic imprinting are classic epigenetic processes that cause disease when not appropriately regulated in mammals. Whereas X chromosome inactivation evolved to solve the problem of gene dosage, the purpose of genomic imprinting remains controversial. Nevertheless, the two phenomena are united by allelic control of large gene clusters, such that only one copy of a gene is expressed in every cell. Allelic regulation poses significant challenges because it requires coordinated long-range control in cis and stable propagation over time. Long noncoding RNAs have emerged as a common theme, and their contributions to diseases of imprinting and the X chromosome have become apparent. Here, we review recent advances in basic biology, the connections to disease, and preview potential therapeutic strategies for future development.

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Read article at publisher's site: https://doi.org/10.1016/j.cell.2013.02.016

Read article for free, from open access legal sources, via Unpaywall: http://www.cell.com/article/S0092867413002055/pdfUnpaywall

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Funding 

Funders who supported this work.

Howard Hughes Medical Institute

    NIGMS NIH HHS (2)