Balancing selection on a regulatory region exhibiting ancient variation that predates human-neandertal divergence.

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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

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PLoS Genet 2013 Apr; 9(4):e1003404




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