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    The human imprintome: regulatory mechanisms, methods of ascertainment, and roles in disease susceptibility

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    Authors
    Skaar, David A.
    Li, Yue
    Bernal, Autumn J.
    Hoyo, Cathrine
    Murphy, Susan K.
    Jirtle, Randy L.
    Issue Date
    2012-12
    Subjects
    differential methylation
    histone modification
    imprinted gene
    
    Metadata
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    Abstract
    Imprinted genes form a special subset of the genome, exhibiting monoallelic expression in a parent-of-origin-dependent fashion. This monoallelic expression is controlled by parental-specific epigenetic marks, which are established in gametogenesis and early embryonic development and are persistent in all somatic cells throughout life. We define this specific set of cis-acting epigenetic regulatory elements as the imprintome, a distinct and specially tasked subset of the epigenome. Imprintome elements contain DNA methylation and histone modifications that regulate monoallelic expression by affecting promoter accessibility, chromatin structure, and chromatin configuration. Understanding their regulation is critical because a significant proportion of human imprinted genes are implicated in complex diseases. Significant species variation in the repertoire of imprinted genes and their epigenetic regulation, however, will not allow model organisms solely to be used for this crucial purpose. Ultimately, only the human will suffice to accurately define the human imprintome.
    Citation
    Skaar, D.A., Li, Y., Bernal, A.J. et al. (2012) 'The human imprintome: regulatory mechanisms, methods of ascertainment, and roles in disease susceptibility', ILAR journal, 53(3-4), pp.341-358
    Publisher
    National Academy of Sciences
    Journal
    ILAR journal
    URI
    http://hdl.handle.net/10547/296167
    DOI
    10.1093/ilar.53.3-4.341
    PubMed ID
    23744971
    Additional Links
    http://www.ncbi.nlm.nih.gov/pubmed/23744971
    Type
    Article
    Language
    en
    ISSN
    1930-6180
    ae974a485f413a2113503eed53cd6c53
    10.1093/ilar.53.3-4.341
    Scopus Count
    Collections
    Muscle Cellular and Molecular Physiology

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