title: A common inversion under selection in Europeans.
abstract: A refined physical map of chromosome 17q21.31 uncovered a 900-kb inversion polymorphism. Chromosomes with the inverted segment in different orientations represent two distinct lineages, H1 and H2, that have diverged for as much as 3 million years and show no evidence of having recombined. The H2 lineage is rare in Africans, almost absent in East Asians but found at a frequency of 20% in Europeans, in whom the haplotype structure is indicative of a history of positive selection. Here we show that the H2 lineage is undergoing positive selection in the Icelandic population, such that carrier females have more children and have higher recombination rates than noncarriers.
authors.affiliation: deCODE Genetics, Sturlugata 8, 101 Reykjavík, Iceland.
authors.forename: Hreinn
authors.initials: H
authors.lastname: Stefansson
authors.forename: Agnar
authors.initials: A
authors.lastname: Helgason
authors.forename: Gudmar
authors.initials: G
authors.lastname: Thorleifsson
authors.forename: Valgerdur
authors.initials: V
authors.lastname: Steinthorsdottir
authors.forename: Gisli
authors.initials: G
authors.lastname: Masson
authors.forename: John
authors.initials: J
authors.lastname: Barnard
authors.forename: Adam
authors.initials: A
authors.lastname: Baker
authors.forename: Aslaug
authors.initials: A
authors.lastname: Jonasdottir
authors.forename: Andres
authors.initials: A
authors.lastname: Ingason
authors.forename: Vala G
authors.initials: VG
authors.lastname: Gudnadottir
authors.forename: Natasa
authors.initials: N
authors.lastname: Desnica
authors.forename: Andrew
authors.initials: A
authors.lastname: Hicks
authors.forename: Arnaldur
authors.initials: A
authors.lastname: Gylfason
authors.forename: Daniel F
authors.initials: DF
authors.lastname: Gudbjartsson
authors.forename: Gudrun M
authors.initials: GM
authors.lastname: Jonsdottir
authors.forename: Jesus
authors.initials: J
authors.lastname: Sainz
authors.forename: Kari
authors.initials: K
authors.lastname: Agnarsson
authors.forename: Birgitta
authors.initials: B
authors.lastname: Birgisdottir
authors.forename: Shyamali
authors.initials: S
authors.lastname: Ghosh
authors.forename: Adalheidur
authors.initials: A
authors.lastname: Olafsdottir
authors.forename: Jean-Baptiste
authors.initials: JB
authors.lastname: Cazier
authors.forename: Kristleifur
authors.initials: K
authors.lastname: Kristjansson
authors.forename: Michael L
authors.initials: ML
authors.lastname: Frigge
authors.forename: Thorgeir E
authors.initials: TE
authors.lastname: Thorgeirsson
authors.forename: Jeffrey R
authors.initials: JR
authors.lastname: Gulcher
authors.forename: Augustine
authors.initials: A
authors.lastname: Kong
authors.forename: Kari
authors.initials: K
authors.lastname: Stefansson
mesh_terms: D007446:Chromosome Inversion; D002886:Chromosomes, Human, Pair 17; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D007055:Iceland; D008969:Molecular Sequence Data; D010802:Phylogeny; D020161:Physical Chromosome Mapping; D011110:Polymorphism, Genetic; D011995:Recombination, Genetic; D012641:Selection, Genetic; D044465:White People / Q000235:genetics*