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

  • Randy Jirtle
    ,
  • David A. Skaar
    ,
  • Yue Li
    ,
  • Autumn J. Bernal
    ,
  • Cathrine Hoyo
    ,
  • Susan K. Murphy
Research Output: Contribution to journal Article Peer-review

Sustainable Development Goals

  • SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well

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.

Publication Information

Output type

Research Output: Contribution to journal Article Peer-review

Original language

English

Pages from-to (Number of pages)

Pages 341-358

Journal (Volume, Issue Number)

ILAR Journal (Volume 53, Issue 3-4)

Publication milestones

  • Published - 01/12/2012

Publication status

Published - 01/12/2012

ISSN

1084-2020

External Publication IDs

  • handle.net: 10547/296167
  • Scopus: 84891900508

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