Article
Genes with monoallelic expression contribute disproportionately to genetic diversity in humans.
Nature genetics - 1 Mar 2016
Savova Virginia, Chun Sung, Sohail Mashaal, McCole Ruth B, Witwicki Robert, Gai Lisa, Lenz Tobias L, Wu C-Ting, Sunyaev Shamil R, Gimelbrant Alexander A
Abstract excerpt
An unexpectedly large number of human autosomal genes are subject to monoallelic expression (MAE). Our analysis of 4,227 such genes uncovers surprisingly high genetic variation across human populations. This increased diversity is unlikely to reflect relaxed purifying selection. Remarkably, MAE genes exhibit an elevated recombination rate and an increased density of hypermutable sequence contexts. However, these...
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