Human Reproduction Update, Vol.10, No.1 pp.3-18, 2004
© European Society of Human Reproduction and Embryology 2004; all rights reserved
Potential significance of genomic imprinting defects for reproduction and assisted reproductive technology
1 McGill University–Montreal Children’s Hospital Research Institute and Departments of Paediatrics, Human Genetics, and Pharmacology & Therapeutics, McGill University, Montreal, Quebec, H3H 1P3, Canada and 2 University of Pittsburgh, Department of Molecular Genetics and Biochemistry, Pittsburgh, PA 15213, USA 3 To whom correspondence should be addressed at: McGill University-Montreal Children’s Hospital Research Institute, 2300 Tupper Street, Montreal, Quebec. Canada H3H 1P3. e-mail: jacquetta.trasler{at}mcgill.ca
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.
Key words: Angelman syndrome/assisted reproductive technology/Beckwith–Wiedemann syndrome/genomic imprinting/reproduction
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