A common inversion under selection in Europeans.
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.
Stefansson
Hreinn
H
deCODE Genetics, Sturlugata 8, 101 Reykjavík, Iceland.
Helgason
Agnar
A
Thorleifsson
Gudmar
G
Steinthorsdottir
Valgerdur
V
Masson
Gisli
G
Barnard
John
J
Baker
Adam
A
Jonasdottir
Aslaug
A
Ingason
Andres
A
Gudnadottir
Vala G
VG
Desnica
Natasa
N
Hicks
Andrew
A
Gylfason
Arnaldur
A
Gudbjartsson
Daniel F
DF
Jonsdottir
Gudrun M
GM
Sainz
Jesus
J
Agnarsson
Kari
K
Birgisdottir
Birgitta
B
Ghosh
Shyamali
S
Olafsdottir
Adalheidur
A
Cazier
Jean-Baptiste
JB
Kristjansson
Kristleifur
K
Frigge
Michael L
ML
Thorgeirsson
Thorgeir E
TE
Gulcher
Jeffrey R
JR
Kong
Augustine
A
Stefansson
Kari
K
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*