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Science, Vol. 339, No. 6127. (29 March 2013), pp. 1578-1582, doi:10.1126/science.1234070 Key: citeulike:12069580
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Shared ancestral polymorphisms between species tend to be relatively rare, and studies of trans-species polymorphisms have focused on just a few regions known for balancing selection. Leffler et al. (p. 1578, published online 14 February) performed genome-wide scans among humans and great apes and found shared polymorphisms between chimps and humans. Many of the identified variants seem to be associated with genes involved in pathogen response or defense, suggesting that this widespread balancing selection may reflect the ongoing arms race between pathogens and hosts.
The authors were looking for cases of balancing selection so ancient that both alleles would be present in both humans and chimps. (Importantly, they controlled for the possibility of ancient gene duplications that had a small number of mutations that were being mistakenly called as SNPs. I hope they didn't weed these out too aggressively, in case they weeded out ancient polymorphisms of copy number!) They found many cases where two or more SNPs were on a shared haplotype in both species. These cases were enriched for regions near genes encoding cell surface glycoproteins, which the authors hypothesize has to do with the role of these proteins in immunity and infection. A handful of novel cases had more than 2 SNPs, and 2 of these cases looked like they could be conserved at least as far back as gorilla.
One of these two cases is near MTRR, methionine synthase reductase, oddly enough.
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