Balancing selection on a regulatory region exhibiting ancient variation that predates human-neandertal divergence.
Document Type
Article
Publication Date
4-2013
Keywords
Alleles, Animals, Base Sequence, Ethnic Groups, European Continental Ancestry Group, Genetic Variation, Genetics, Population, Genome, Human, Haplotypes, Humans, Neanderthals, Pan troglodytes, Phylogeny, Polymorphism, Single Nucleotide, Selection, Genetic, Sequence Deletion
JAX Source
PLoS Genet 2013 Apr; 9(4):e1003404
Volume
9
Issue
4
First Page
1003404
Last Page
1003404
ISSN
1553-7404
PMID
23593015
Abstract
Ancient population structure shaping contemporary genetic variation has been recently appreciated and has important implications regarding our understanding of the structure of modern human genomes. We identified a ∼36-kb DNA segment in the human genome that displays an ancient substructure. The variation at this locus exists primarily as two highly divergent haplogroups. One of these haplogroups (the NE1 haplogroup) aligns with the Neandertal haplotype and contains a 4.6-kb deletion polymorphism in perfect linkage disequilibrium with 12 single nucleotide polymorphisms (SNPs) across diverse populations. PLoS Genet 2013 Apr; 9(4):e1003404
Recommended Citation
Gokcumen O,
Zhu Q,
Mulder L,
Iskow R,
Austermann C,
Scharer C,
Raj T,
Boss J,
Sunyaev S,
Price A,
Stranger B,
Simon V,
Lee C.
Balancing selection on a regulatory region exhibiting ancient variation that predates human-neandertal divergence. PLoS Genet 2013 Apr; 9(4):e1003404