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Related Experiment Videos

Epigenetics and human disease.

Yong-Hui Jiang1, Jan Bressler, Arthur L Beaudet

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. abeaudet@bcm.tmc.edu

Annual Review of Genomics and Human Genetics
|October 16, 2004
PubMed
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Epigenetics involves heritable gene expression changes without altering DNA sequence. Epigenetic factors, particularly genomic imprinting, play a crucial role in human diseases, influencing phenotypes and genetic disorders.

Area of Science:

  • Genetics
  • Molecular Biology
  • Epigenetics

Background:

  • Epigenetics refers to heritable changes in gene expression without DNA sequence alteration.
  • Genomic imprinting provides clear evidence of epigenetics' role in human disease etiology.
  • Epigenetic mechanisms are increasingly recognized as critical in disease development.

Purpose of the Study:

  • To explore the role of epigenetics in human disease.
  • To discuss how epigenetic defects contribute to disease phenotypes.
  • To introduce the Mixed Epigenetic and Genetic and Mixed de novo and Inherited (MEGDI) model.

Main Methods:

  • Review of existing literature on epigenetics and human diseases.
  • Analysis of genetic disorders affecting chromatin structure.

Related Experiment Videos

  • Examination of imprinted genes and their associated phenotypes.

    • Main Results:

    • Epimutations in imprinted genes cause epigenetic phenotypes.
    • Uniparental disomy and imprinting defects are epigenetic disease phenotypes.
    • The MEGDI model explains phenotypes arising from combined genetic and epigenetic factors.

    Conclusions:

    • Epigenetic factors, especially genomic imprinting, are vital in human disease.
    • Genetic disorders impacting chromatin can lead to epigenetic alterations.
    • The MEGDI model offers a framework for understanding complex traits and genetic scan results.