A common inversion under selection in Europeans

• Published in: Nature genetics Vol. 37; no. 2; pp. 129 - 137
• Main Authors: Kong, Augustine, Stefansson, Kari, Stefansson, Hreinn, Helgason, Agnar, Thorleifsson, Gudmar, Steinthorsdottir, Valgerdur, Masson, Gisli, Barnard, John, Baker, Adam, Jonasdottir, Aslaug, Ingason, Andres, Gudnadottir, Vala G, Desnica, Natasa, Hicks, Andrew, Gylfason, Arnaldur, Gudbjartsson, Daniel F, Jonsdottir, Gudrun M, Sainz, Jesus, Agnarsson, Kari, Birgisdottir, Birgitta, Ghosh, Shyamali, Olafsdottir, Adalheidur, Cazier, Jean-Baptiste, Kristjansson, Kristleifur, Frigge, Michael L, Thorgeirsson, Thorgeir E, Gulcher, Jeffrey R
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group 01.02.2005
• Subjects: Biological and medical sciences; Chromosome Inversion; Chromosomes; Chromosomes, Human, Pair 17; European Continental Ancestry Group - genetics; Female; Fundamental and applied biological sciences. Psychology; Gene Frequency; Genetic aspects; Genetic polymorphisms; Genetics of eukaryotes. Biological and molecular evolution; Haplotypes; Human evolution; Humans; Iceland; Molecular Sequence Data; Phylogeny; Physical Chromosome Mapping; Physiological aspects; Polymorphism, Genetic; Recombination, Genetic; Selection, Genetic; Europe; Iceland; United States; European; Selection
• ISSN: 1061-4036; 1546-1718
• DOI: 10.1038/ng1508

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.