A common inversion under selection in Europeans

Hreinn Stefansson; Agnar Helgason; Gudmar Thorleifsson; Valgerdur Steinthorsdottir; Gisli Masson; John Barnard; Adam Baker; Aslaug Jonasdottir; Andres Ingason; Vala G Gudnadottir; Natasa Desnica; Andrew Hicks; Arnaldur Gylfason; Daniel F Gudbjartsson; Gudrun M Jonsdottir; Jesus Sainz; Kari Agnarsson; Birgitta Birgisdottir; Shyamali Ghosh; Adalheidur Olafsdottir; Jean-Baptiste Cazier; Kristleifur Kristjansson; Michael L Frigge; Thorgeir E Thorgeirsson; Jeffrey R Gulcher; Augustine Kong; Kari Stefansson

doi:10.1038/ng1508

A common inversion under selection in Europeans

Hreinn Stefansson, Agnar Helgason, Gudmar Thorleifsson, Valgerdur Steinthorsdottir, Gisli Masson, John Barnard, Adam Baker, Aslaug Jonasdottir, Andres Ingason, Vala G Gudnadottir, Natasa Desnica, Andrew Hicks, Arnaldur Gylfason, Daniel F Gudbjartsson, Gudrun M Jonsdottir, Jesus Sainz, Kari Agnarsson, Birgitta Birgisdottir, Shyamali Ghosh, Adalheidur OlafsdottirJean-Baptiste Cazier, Kristleifur Kristjansson, Michael L Frigge, Thorgeir E Thorgeirsson, Jeffrey R Gulcher, Augustine Kong, Kari Stefansson

Cancer and Genomic Sciences

Research output: Contribution to journal › Article › peer-review

569 Citations (Scopus)

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.

Original language	English
Pages (from-to)	129-37
Number of pages	9
Journal	Nature Genetics
Volume	37
Issue number	2
DOIs	https://doi.org/10.1038/ng1508
Publication status	Published - Feb 2005

Keywords

Chromosome Inversion
Chromosomes, Human, Pair 17
European Continental Ancestry Group
Female
Gene Frequency
Haplotypes
Humans
Iceland
Molecular Sequence Data
Phylogeny
Physical Chromosome Mapping
Polymorphism, Genetic
Recombination, Genetic
Selection, Genetic

Access to Document

10.1038/ng1508

Cite this

Stefansson, H., Helgason, A., Thorleifsson, G., Steinthorsdottir, V., Masson, G., Barnard, J., Baker, A., Jonasdottir, A., Ingason, A., Gudnadottir, V. G., Desnica, N., Hicks, A., Gylfason, A., Gudbjartsson, D. F., Jonsdottir, G. M., Sainz, J., Agnarsson, K., Birgisdottir, B., Ghosh, S., ... Stefansson, K. (2005). A common inversion under selection in Europeans. Nature Genetics, 37(2), 129-37. https://doi.org/10.1038/ng1508

@article{e4dc45dd2f68464188a223537f9a77eb,

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.",

keywords = "Chromosome Inversion, Chromosomes, Human, Pair 17, European Continental Ancestry Group, Female, Gene Frequency, Haplotypes, Humans, Iceland, Molecular Sequence Data, Phylogeny, Physical Chromosome Mapping, Polymorphism, Genetic, Recombination, Genetic, Selection, Genetic",

author = "Hreinn Stefansson and Agnar Helgason and Gudmar Thorleifsson and Valgerdur Steinthorsdottir and Gisli Masson and John Barnard and Adam Baker and Aslaug Jonasdottir and Andres Ingason and Gudnadottir, {Vala G} and Natasa Desnica and Andrew Hicks and Arnaldur Gylfason and Gudbjartsson, {Daniel F} and Jonsdottir, {Gudrun M} and Jesus Sainz and Kari Agnarsson and Birgitta Birgisdottir and Shyamali Ghosh and Adalheidur Olafsdottir and Jean-Baptiste Cazier and Kristleifur Kristjansson and Frigge, {Michael L} and Thorgeirsson, {Thorgeir E} and Gulcher, {Jeffrey R} and Augustine Kong and Kari Stefansson",

year = "2005",

month = feb,

doi = "10.1038/ng1508",

language = "English",

volume = "37",

pages = "129--37",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "2",

}

Stefansson, H, Helgason, A, Thorleifsson, G, Steinthorsdottir, V, Masson, G, Barnard, J, Baker, A, Jonasdottir, A, Ingason, A, Gudnadottir, VG, Desnica, N, Hicks, A, Gylfason, A, Gudbjartsson, DF, Jonsdottir, GM, Sainz, J, Agnarsson, K, Birgisdottir, B, Ghosh, S, Olafsdottir, A, Cazier, J-B, Kristjansson, K, Frigge, ML, Thorgeirsson, TE, Gulcher, JR, Kong, A & Stefansson, K 2005, 'A common inversion under selection in Europeans', Nature Genetics, vol. 37, no. 2, pp. 129-37. https://doi.org/10.1038/ng1508

TY - JOUR

T1 - A common inversion under selection in Europeans

AU - Stefansson, Hreinn

AU - Helgason, Agnar

AU - Thorleifsson, Gudmar

AU - Steinthorsdottir, Valgerdur

AU - Masson, Gisli

AU - Barnard, John

AU - Baker, Adam

AU - Jonasdottir, Aslaug

AU - Ingason, Andres

AU - Gudnadottir, Vala G

AU - Desnica, Natasa

AU - Hicks, Andrew

AU - Gylfason, Arnaldur

AU - Gudbjartsson, Daniel F

AU - Jonsdottir, Gudrun M

AU - Sainz, Jesus

AU - Agnarsson, Kari

AU - Birgisdottir, Birgitta

AU - Ghosh, Shyamali

AU - Olafsdottir, Adalheidur

AU - Cazier, Jean-Baptiste

AU - Kristjansson, Kristleifur

AU - Frigge, Michael L

AU - Thorgeirsson, Thorgeir E

AU - Gulcher, Jeffrey R

AU - Kong, Augustine

AU - Stefansson, Kari

PY - 2005/2

Y1 - 2005/2

N2 - 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.

AB - 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.

KW - Chromosome Inversion

KW - Chromosomes, Human, Pair 17

KW - European Continental Ancestry Group

KW - Female

KW - Gene Frequency

KW - Haplotypes

KW - Humans

KW - Iceland

KW - Molecular Sequence Data

KW - Phylogeny

KW - Physical Chromosome Mapping

KW - Polymorphism, Genetic

KW - Recombination, Genetic

KW - Selection, Genetic

U2 - 10.1038/ng1508

DO - 10.1038/ng1508

M3 - Article

C2 - 15654335

SN - 1061-4036

VL - 37

SP - 129

EP - 137

JO - Nature Genetics

JF - Nature Genetics

IS - 2

ER -

A common inversion under selection in Europeans

Abstract

Keywords

Access to Document

Fingerprint

Cite this