Potential significance of genomic imprinting defects for reproduction and assisted reproductive technology

Hum Reprod Update. 2004 Jan-Feb;10(1):3-18. doi: 10.1093/humupd/dmh002.

Abstract

Recent studies suggest a possible link between human assisted reproductive technology and genomic imprinting disorders. Assisted reproductive technology includes the isolation, handling and culture of gametes and early embryos at times when imprinted genes are likely to be particularly vulnerable to external influences. Evidence of sex-specific differences in imprint acquisition suggests that male and female germ cells may be susceptible to perturbations in imprinted genes at specific prenatal and postnatal stages. Imprints acquired first during gametogenesis must be maintained during preimplantation development when reprogramming of the overall genome occurs. In this review, we will discuss both new developments in our understanding of genomic imprinting including the mechanisms and timing of imprint erasure, acquisition and maintenance during germ cell development and early embryogenesis as well as the implications of this research for future epigenetic studies in reproduction and assisted reproductive technology.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Angelman Syndrome / genetics
  • Animals
  • Beckwith-Wiedemann Syndrome / genetics
  • Embryonic and Fetal Development / genetics*
  • Embryonic and Fetal Development / physiology
  • Female
  • Gene Expression Regulation, Developmental
  • Genome, Human
  • Genomic Imprinting / genetics*
  • Genomic Imprinting / physiology
  • Humans
  • Male
  • Mice
  • Pregnancy
  • Reproductive Techniques, Assisted / adverse effects*