Neandertal Origin of Genetic Variation at the Cluster of OAS Immunity Genes
- 12 January 2013
- journal article
- Published by Oxford University Press (OUP) in Molecular Biology and Evolution
- Vol. 30 (4), 798-801
- https://doi.org/10.1093/molbev/mst004
Abstract
Analyses of ancient DNA from extinct humans reveal signals of at least two independent hybridization events in the history of non-African populations. To date, there are very few examples of specific genetic variants that have been rigorously identified as introgressive. Here, we survey DNA sequence variation in the OAS gene cluster on chromosome 12 and provide strong evidence that a haplotype extending for ∼185 kb introgressed from Neandertals. This haplotype is nearly restricted to Eurasians and is estimated to have diverged from the Neandertal sequence ∼125 kya. Despite the potential for novel functional variation, the observed frequency of this haplotype is consistent with neutral introgression. This is the second locus in the human genome, after STAT2, carrying distinct haplotypes that appear to have introgressed separately from both Neandertals and Denisova.Keywords
This publication has 12 references indexed in Scilit:
- An integrated map of genetic variation from 1,092 human genomesNature, 2012
- The Date of Interbreeding between Neandertals and Modern HumansPLoS Genetics, 2012
- Effect of ancient population structure on the degree of polymorphism shared between modern human populations and ancient homininsProceedings of the National Academy of Sciences of the United States of America, 2012
- A Haplotype at STAT2 Introgressed from Neanderthals and Serves as a Candidate of Positive Selection in Papua New GuineaAmerican Journal of Human Genetics, 2012
- The Shaping of Modern Human Immune Systems by Multiregional Admixture with Archaic HumansScience, 2011
- Testing for Ancient Admixture between Closely Related PopulationsMolecular Biology and Evolution, 2011
- Variability in the 2′‐5′‐Oligoadenylate Synthetase Gene Cluster Is Associated with Human Predisposition to Tick‐Borne Encephalitis Virus–Induced DiseaseThe Journal of Infectious Diseases, 2010
- Fine-scale recombination rate differences between sexes, populations and individualsNature, 2010
- A Draft Sequence of the Neandertal GenomeScience, 2010
- Worldwide Human Relationships Inferred from Genome-Wide Patterns of VariationScience, 2008