A common inversion under selection in Europeans

By Hreinn Stefansson, Agnar Helgason, G. Thorleifsson, V. Steinthorsdottir, G. Másson, J. Barnard, A. Baker, Á. Jónasdóttir, A. Ingason, Vala G. Gudnadottir and 17 more. Nature Genetics, 2005

813 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology, Plant Science

View Paper: https://www.semanticscholar.org/paper/6d10c8069e3c2ba4bef07d98b69dd536ae969dd5

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Citations in the corpus

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis (2010, methodology): “P values were adjusted for relatedness of the individuals by simulating genotypes through the corresponding Icelandic genealog”
The neurobiology of multiple sclerosis: genes, inflammation, and neurodegeneration. (2006, background): “, 2004), inversions (Stefansson et al., 2005), loss of imprinting (Mummert et al.”
A Map of Recent Positive Selection in the Human Genome (2006, background): “At least three of the regions that we identified as targets of selection have previously been associatedwith complex phenotypes, including CYP3A5 (salt-sensitive hypertension),ADH (alcoholism susceptibility), and the 17q21 inversion (recombination rates and fertility) [7,20,47].”
Mapping the human genetic architecture of COVID-19 (2021, neutral): “31 locus is a well-known locus for structural variants containing a megabase inversion polymorphism (H1 and inverted H2 forms) and complex copy-number variations, where the inverted H2 forms were shown to be positively selected in Europeans 29,30 .”
Revisiting the Impact of Inversions in Evolution: From Population Genetic Markers to Drivers of Adaptive Shifts and Speciation? (2008, background): “This inversion is absent in African populations but at a high frequency of around 20% in European populations (Stefansson et al. 2005).”
Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes (2005, background): “Such inversion rearrangements can disrupt genes and cause disease traits [44], predispose DNA to deleterious genomic rearrangements [45–48], or be responsible for haplotype blocks essentially creating a balancer chromosome that suppresses recombination [49].”
Alzheimer’s and Parkinson’s diseases: The prion concept in relation to assembled Aβ, tau, and α-synuclein (2015, positive): “In populations of European descent, MAPT is characterized by two haplotypes that result from a 900-kb inversion (H1) or noninversion (H2) polymorphism (71).”
Meiotic Recombination: The Essence of Heredity. (2015, background): “Mothers inheriting a higher crossover rate have slightly more children (Kong et al. 2004; Stefansson et al. 2005; Coop et al. 2008).”