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16 Dec

Shading indicates the density of the number of SNPs at a given position.Look to the bottom right, and you see the gene around which much of the paper hinges, .They did use a large number of neutral markers though, so I’m not too worried about biases in their data set.

This is important in regards to looking for genes which may drive adaptation to higher altitudes; if you don’t have different genes then you don’t have different traits.

If the two populations separated about 3,000 years ago one assumes that genes with SNPs with huge Fs, where most of the variation can be partitioned between the groups, not within them, are good candidates for having been driven by selection. So they compared the Tibetans and Hans with the Danes, who are an outgroup who separated from the East Asian cluster about one order of magnitude further back in time (~30,000 years).

Next they generated a “population branch statistic,” (PBS), from the the F data (see the supplements). The smaller tree represents genome average PBS values.

The HIF family of transcription factors consist of two subunits, with three alternate subunits (HIF-1, HIF-2/EPAS1, HIF-3) that dimerize with a β subunit encoded by ARNT or ARNT2.

HIF-1 and EPAS1 each act on a unique set of regulatory targets…and the narrower expression profile of EPAS1 includes adult and fetal lung, placenta, and vascular endothelial cells…A protein-stabilizing mutation in EPAS1 is associated with erythrocytosis…suggesting a link between EPAS1 and the regulation of red blood cell production.