How has the study of the human placenta aided our understanding of partially methylated genes?

Diane I. Schroeder, Janine M LaSalle

Research output: Contribution to journalArticle

16 Scopus citations

Abstract

While the human genome sequence is relatively uniform between the cells of an individual, the DNA methylation of the genome (methylome) has unique features in different cells, tissues and stages of development. Recent genome-wide sequencing of the methylome has revealed large partially methylated domains (PMDs) in the human placenta. Unlike CpG islands and Polycomb-regulated regions, which can also have low levels of methylation, placental PMDs cover approximately 37% of the human genome and are associated with inaccessible chromatin and the repression of tissue-specific genes. Here, we summarize the interesting biological questions that have arisen as a result of finding PMDs in the human placenta, including how PMDs form, what they do, how they evolved and how they might be relevant to human disease.

Original languageEnglish (US)
Pages (from-to)645-654
Number of pages10
JournalEpigenomics
Volume5
Issue number6
DOIs
StatePublished - Dec 2013

Keywords

  • cancer
  • DNA methylation
  • epigenetics
  • epigenomics
  • mammalian evolution
  • methylome
  • placenta
  • trophoblast

ASJC Scopus subject areas

  • Genetics
  • Cancer Research

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