title: Exploring the genesis and functions of Human Accelerated Regions sheds light on their role in human evolution.
abstract: Human accelerated regions (HARs) are DNA sequences that changed very little throughout mammalian evolution, but then experienced a burst of changes in humans since divergence from chimpanzees. This unexpected evolutionary signature is suggestive of deeply conserved function that was lost or changed on the human lineage. Since their discovery, the actual roles of HARs in human evolution have remained somewhat elusive, due to their being almost exclusively non-coding sequences with no annotation. Ongoing research is beginning to crack this problem by leveraging new genome sequences, functional genomics data, computational approaches, and genetic assays to reveal that many HARs are developmental gene regulatory elements and RNA genes, most of which evolved their uniquely human mutations through positive selection before divergence of archaic hominins and diversification of modern humans.
authors.affiliation: Department of Biological Statistics and Computational Biology, Cornell University, 102D Weill Hall, Ithaca, NY 14853, USA.
authors.forename: Melissa J
authors.initials: MJ
authors.lastname: Hubisz
authors.affiliation: Gladstone Institutes, Division of Biostatistics & Institute for Human Genetics, University of California, 1650 Owens Street, San Francisco, CA 94158, USA. Electronic address: kpollard@gladstone.ucsf.edu.
authors.forename: Katherine S
authors.initials: KS
authors.lastname: Pollard
mesh_terms: D000818:Animals; D002874:Chromosome Mapping; D017124:Conserved Sequence / Q000235:genetics*; D004247:DNA / Q000145:classification / Q000235:genetics*; D019143:Evolution, Molecular; D015894:Genome, Human / Q000235:genetics*; D015186:Hominidae / Q000235:genetics*; D006801:Humans; D008957:Models, Genetic; D010802:Phylogeny
chemical_list: D004247:DNA