iants - in the PRNP gene. This data was used to assess the ages of the mutations, to identify geographic patterns of variation, and to evaluate selective forces that have potentially influenced these patterns.

"In contrast to the previous study, which concluded that variation in the PRNP gene was strongly skewed toward intermediate frequency variants, our results showed that there was, in fact, a deficit of intermediate frequency variants," says Bertranpetit. "Our results are consistent with a complex history of episodic or fluctuating selection, including positive selection, purifying selection, and possibly even short periods of balancing selection."

On a more technical note, the study cautions researchers involved in SNP-based population genetics studies. The work is among the first to empirically demonstrate how SNP ascertainment can introduce a strong bias in population genetics studies and seriously distort the conclusions. Bertranpetit and his colleagues point out that at a time when a flood of ascertained SNP data is being generated, it is essential that SNP ascertainment be taken into consideration in data analyses.

The first author on the study is Dr. Marta Soldevila, who completed her Ph.D. at the Universitat Pompeu Fabra and performed a substantial part of the sequencing work at DeCODE Genetics (Reykjavik, Iceland).


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