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Journal of Biomedicine and Biotechnology
Volume 2010, Article ID 478732, 13 pages
Review Article

Maternal-Zygotic Epistasis and the Evolution of Genetic Diseases

1Department of Biology & Biochemistry, University of Bath, Bath BA2 7AY, UK
2Department of Biology, Indiana University, Bloomington, IN 47401, USA

Received 10 August 2009; Revised 25 November 2009; Accepted 19 February 2010

Academic Editor: Janet Sinsheimer

Copyright © 2010 Nicholas K. Priest and Michael J. Wade. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Many birth defects and genetic diseases are expressed in individuals that do not carry the disease causing alleles. Genetic diseases observed in offspring can be caused by gene expression in mothers and by interactions between gene expression in mothers and offspring. It is not clear whether the underlying pattern of gene expression (maternal versus offspring) affects the incidence of genetic disease. Here we develop a 2-locus population genetic model with epistatic interactions between a maternal gene and a zygotic gene to address this question. We show that maternal effect genes that affect disease susceptibility in offspring persist longer and at higher frequencies in a population than offspring genes with the same effects. We find that specific forms of maternal-zygotic epistasis can maintain disease causing alleles at high frequencies over a range of plausible values. Our findings suggest that the strength and form of epistasis and the underlying pattern of gene expression may greatly influence the prevalence of human genetic diseases.