Ontology highlight
ABSTRACT:
SUBMITTER: Savova V
PROVIDER: S-EPMC4942303 | biostudies-literature | 2016 Mar
REPOSITORIES: biostudies-literature
Savova Virginia V Chun Sung S Sohail Mashaal M McCole Ruth B RB Witwicki Robert R Gai Lisa L Lenz Tobias L TL Wu C-Ting CT Sunyaev Shamil R SR Gimelbrant Alexander A AA
Nature genetics 20160125 3
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 factors do not fully account for the increased diversity. We find that the elevated ...[more]