PerspectiveDevelopment

Aneuploidy and mother's genes

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Science  10 Apr 2015:
Vol. 348, Issue 6231, pp. 180-181
DOI: 10.1126/science.aab0877

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Summary

Biology, ecology, and culture have shaped human genetic variation over thousands of generations. Technology now allows us to know the sequence of our genomes and to act on this knowledge. Which genes did a child inherit from either parent? With the direct-to-consumer genome scan products now available, this question can be answered at the cost of a few hundred U.S. dollars and a few milliliters of spit. Which fertilized embryo is free of genetic and genomic abnormalities? By combining in vitro fertilization, preimplantation genetic screening, and whole-genome scans, this is also now possible to assess (1, 2). But what if genes themselves select potential children? On page 235 of this issue, McCoy et al. (3) indicate that this may be the case. The authors describe paradoxical results of a genomic study of thousands of preimplantation human embryos and their parents. They turn up a maternal-effect genetic variant that occurs at high frequency in many populations, that was likely under positive selection in our recent past, and that dramatically decreases embryonic viability.