Nature Genetics
37, 129 - 137 (2005)
Published online: 16 January 2005; | doi:10.1038/ng1508
A common inversion under selection in EuropeansHreinn Stefansson1, 3, Agnar Helgason1, 3, Gudmar Thorleifsson1, Valgerdur Steinthorsdottir1, Gisli Masson1, John Barnard2, Adam Baker1, Aslaug Jonasdottir1, Andres Ingason1, Vala G Gudnadottir1, Natasa Desnica1, Andrew Hicks1, Arnaldur Gylfason1, Daniel F Gudbjartsson1, Gudrun M Jonsdottir1, Jesus Sainz1, Kari Agnarsson1, Birgitta Birgisdottir1, Shyamali Ghosh1, Adalheidur Olafsdottir1, Jean-Baptiste Cazier1, Kristleifur Kristjansson1, Michael L Frigge1, Thorgeir E Thorgeirsson1, Jeffrey R Gulcher1, Augustine Kong1, 3
& Kari Stefansson1, 31
deCODE Genetics, Sturlugata 8, 101 Reykjavík, Iceland. 2
Department of Biostatistics and Epidemiology, Cleveland Clinic Foundation, Cleveland, Ohio, USA. 3
These authors contributed equally to this work.
Correspondence should be addressed to Augustine Kong kong@decode.is or Kari Stefansson kari.stefansson@decode.isA 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.
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