Artigo importante sobre sinais de seleção no genoma humano

terça-feira, março 24, 2009

Eu destaco o mais importante artigo recente sobre sinais de seleção no genoma humano:

Signals of recent positive selection in a worldwide sample of human populations

1. Joseph K. Pickrell1,13,
2. Graham Coop1,1213,
3. John Novembre1,2,
4. Sridhar Kudaravalli1,
5. Jun Z. Li3,
6. Devin Absher4,
7. Balaji S. Srinivasan5,6,7,8,
8. Gregory S. Barsh9,
9. Richard M. Myers4,
10. Marcus W. Feldman10 and
11. Jonathan K. Pritchard1,11,13

+Author Affiliations

1. 1Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA;
2. 2Department of Ecology and Evolutionary Biology, University of California, Los Angeles, Los Angeles, California 90095, USA;
3. 3Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA;
4. 4HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA;
5. 5Stanford Genome Technology Center, Stanford University, Stanford, California 94305, USA;
6. 6Program in Biomedical Informatics, Stanford University, Stanford, California 94305, USA;
7. 7Department of Computer Science, Stanford University, Stanford, California 94305, USA;
8. 8Department of Statistics, Stanford University, Stanford, California 94305, USA;
9. 9Department of Genetics, Stanford University, Stanford, California 94305, USA;
10. 10Department of Biological Sciences, Stanford University, Stanford, California 94305, USA;
11. 11Howard Hughes Medical Institute, The University of Chicago, Chicago, Illinois 60637, USA


Genome-wide scans for recent positive selection in humans have yielded insight into the mechanisms underlying the extensive phenotypic diversity in our species, but have focused on a limited number of populations. Here, we present an analysis of recent selection in a global sample of 53 populations, using genotype data from the Human Genome Diversity-CEPH Panel. We refine the geographic distributions of known selective sweeps, and find extensive overlap between these distributions for populations in the same continental region but limited overlap between populations outside these groupings. We present several examples of previously unrecognized candidate targets of selection, including signals at a number of genes in the NRG–ERBB4 developmental pathway in non-African populations. Analysis of recently identified genes involved in complex diseases suggests that there has been selection on loci involved in susceptibility to type II diabetes. Finally, we search for local adaptation between geographically close populations, and highlight several examples.

• ↵12 Present address: Section of Evolution and Ecology, University of California, Davis, California 95616, USA.
• ↵13 Corresponding authors.
↵E-mail; fax (773) 834-0508.
↵E-mail; fax (530) 752-1449.
↵E-mail; fax (773) 834-0505.
• [Supplemental material is available online at The data from this study is publicly available at]
• Article published online before print. Article and publication date are at

o Received October 1, 2008.
o Accepted January 13, 2009.
• Freely available online through the Genome Research Open Access option.
• Copyright © 2009 by Cold Spring Harbor Laboratory Press


PDF gratuito do artigo aqui.


Parágrafo para ler CUM GRANUM SALIS:

Further exploration of the geographic patterns in these data and their implications is warranted, but from the point of view of identifying candidate loci for functional verification, the fact that putatively selected loci often conform to the geographic patterns characteristic of neutral loci is somewhat worrying. This suggests that distinguishing true cases of selection from the tails of the neutral distribution may be more difficult than sometimes assumed, and raises the possibility that many loci identified as being under selection in genome scans of this kind may be false positives. Reports of ubiquitous strong (s = 1-5%) positive selection in the human genome (Hawks et al. 2007) may be considerably overstated.