Tracing Evolution's Recent Fingerprints

Science  13 Aug 2010:
Vol. 329, Issue 5993, pp. 740-742
DOI: 10.1126/science.329.5993.740

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The discovery of a gene that helps Tibetans thrive at high altitudes is the most radical of a flurry of recent discoveries of human genes that evolution has strongly favored, a process called positive selection. Four years ago, researchers thought that they would find hundreds of examples in which an advantageous mutation spread rapidly in a particular population. That prediction, based on the first scans of human genome sequence data, did not pan out, and by last year, some researchers were ready to give up. They now realize, however, that plenty of positive selection exists, but it is subtler and harder to trace than originally anticipated. Using new statistical methods, they have found many less dramatic mutations that, for example, also help highland Tibetans survive at high altitude. Others allow Yupik Eskimos to stay warm efficiently, Europeans to thrive on cereal grains, and, perhaps, East Asians avoid alcoholism.