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Human Reproduction Update Advance Access originally published online on July 1, 2005
Human Reproduction Update 2005 11(5):473-482; doi:10.1093/humupd/dmi022
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© The Author 2005. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oupjournals.org

Assisted reproduction: the epigenetic perspective

Bernhard Horsthemke1,3 and Michael Ludwig2

1 Institut für Humangenetik, Universitätsklinikum Essen, Essen and 2 Endokrinologikum Hamburg, Hamburg, Germany

3 To whom correspondence should be addressed at: Institut für Humangenetik, Universitätsklinikum Essen, Hufelandstrasse 55, D-45122 Essen, Germany. E-mail: b.horsthemke{at}uni-essen.de

Developmental pathways in humans and other organisms are buffered against changes in genotype and environment. Therefore, it should not come as a surprise that most of the children conceived by assisted reproduction technology (ART) are healthy, although ART bypasses a lot of biological filters and subjects the gametes and the early embryo to environmental stress. If, however, the buffer breaks down, the development of certain tissues or organs may follow abnormal trajectories. We argue that both normal and abnormal development in children conceived by ART can be explained by epigenetic mechanisms, which control the establishment and maintenance of gene expression patterns in the placenta and fetus. Imprinted genes are of special importance in this respect. There is increasing evidence that genetic factors in infertile couples as well as environmental factors (hormones and culture media) can have adverse effects on epigenetic processes controlling implantation, placentation, organ formation and fetal growth. In addition, loss of epigenetic control may expose hidden genetic variation.

Key words: assisted reproduction / development / epigenetics / genomic imprinting / methylation


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