AI Article Synopsis
- The study presents a model for understanding evolution at two SNP loci by considering factors like mutation, genetic drift, and recombination under various demographic scenarios.
- The model is applied to SNP data from 19 gene regions, analyzing linkage disequilibrium (LD) and heterozygosity data to identify potential selection effects.
- Findings suggest that while some regions show LC and heterozygosity imbalances hinting at selection, estimates of modern human population expansion align with existing data, and disease-associated polymorphisms tend to be younger than average.
Article Abstract
We propose a simple model of evolution at a pair of SNP loci, under mutation, genetic drift and recombination. The developed model allows to consider evolution of SNPs under different demographic scenarios. We applied it to SNP data containing polymorphisms spanning 19 gene regions. We initially matched the linkage disequilibrium (LD) data only, and then we reconciled both LD and heterozygosity data. The imbalance between LD and heterozygosity data, observed for some of the analyzed genomic regions, may be a signature of selection acting in these regions. However, assuming neutrality, we obtain estimates of the age of population expansion of modern humans, which are consistent with the consensus estimates. In addition, we are able to estimate the ages of the polymorphisms observed in different genomic regions and we find that they vary widely with respect to their age. Polymorphisms at loci implicated in human disease, seem to be younger than average. Our results supplement the conclusions originally obtained by Reich and co-workers for the same set of data.
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| http://dx.doi.org/10.1159/000090542 | DOI Listing |
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