| Content Provider |
World Health Organization (WHO)-Global Index Medicus |
| Author |
Excoffier, Laurent Nédélec, Yohann Barreiro, Luis B. Zhou, Xiang Foll, Matthieu Perry, George H. Patin, Etienne Pacis, Alain Gravel, Simon Nsobya, Sam L. Grenier, Jean-christophe Quintana-murci, Lluis Dominy, Nathaniel J. Barakatt, Maxime |
| Spatial Coverage |
Uganda |
| Description |
Author Affiliation: Perry GH ( Departments of Anthropology and Biology, Pennsylvania State University, University Park, PA 16802); Foll M ( School of Life Sciences, École Polytechnique Fédérale de Lausanne, 1015 Lausanne, Switzerland); Grenier JC ( Sainte-Justine Hospital Research Centre, Montreal, QC, Canada H3T 1C5); Patin E ( Institut Pasteur, Unit of Human Evolutionary Genetics, 75015 Paris, France); Nédélec Y ( Sainte-Justine Hospital Research Centre, Montreal, QC, Canada H3T 1C5); Pacis A ( Sainte-Justine Hospital Research Centre, Montreal, QC, Canada H3T 1C5); Barakatt M ( School of Computer Science, and.); Gravel S ( Department of Human Genetics, McGill University, Montreal, QC, Canada H3A 1B1); Zhou X ( Departments of Statistics and Human Genetics, University of Chicago, Chicago, IL 60637); Nsobya SL ( Department of Pathology, Makerere University, Kampala, Uganda); Excoffier L ( Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland); Quintana-Murci L ( Institut Pasteur, Unit of Human Evolutionary Genetics, 75015 Paris, France); Dominy NJ ( Departments of Anthropology and Biological Sciences, Dartmouth College, Hanover, NH 03755); Barreiro LB ( Sainte-Justine Hospital Research Centre, Montreal, QC, Canada H3T 1C5); |
| Abstract |
The evolutionary history of the human pygmy phenotype (small body size), a characteristic of African and Southeast Asian rainforest hunter-gatherers, is largely unknown. Here we use a genome-wide admixture mapping analysis to identify 16 genomic regions that are significantly associated with the pygmy phenotype in the Batwa, a rainforest hunter-gatherer population from Uganda (east central Africa). The identified genomic regions have multiple attributes that provide supporting evidence of genuine association with the pygmy phenotype, including enrichments for SNPs previously associated with stature variation in Europeans and for genes with growth hormone receptor and regulation functions. To test adaptive evolutionary hypotheses, we computed the haplotype-based integrated haplotype score (iHS) statistic and the level of population differentiation (FST) between the Batwa and their agricultural neighbors, the Bakiga, for each genomic SNP. Both |iHS| and FST values were significantly higher for SNPs within the Batwa pygmy phenotype-associated regions than the remainder of the genome, a signature of polygenic adaptation. In contrast, when we expanded our analysis to include Baka rainforest hunter-gatherers from Cameroon and Gabon (west central Africa) and Nzebi and Nzime neighboring agriculturalists, we did not observe elevated |iHS| or FST values in these genomic regions. Together, these results suggest adaptive and at least partially convergent origins of the pygmy phenotype even within Africa, supporting the hypothesis that small body size confers a selective advantage for tropical rainforest hunter-gatherers but raising questions about the antiquity of this behavior. |
| ISSN |
00278424 |
| e-ISSN |
10916490 |
| Journal |
Proceedings of the National Academy of Sciences of the United States of America |
| Issue Number |
35 |
| Volume Number |
111 |
| Language |
English |
| Publisher |
National Academy of Sciences |
| Publisher Date |
2014-09-01 |
| Publisher Place |
United States |
| Access Restriction |
Open |
| Subject Keyword |
Adaptation, Physiological Genetics African Continental Ancestry Group Body Size Genome, Human Growth Disorders Biological Evolution Genome-Wide Association Study Models, Genetic Phenotype Polymorphism, Single Nucleotide Selection, Genetic Uganda Research Support, Non-U.S. Gov't Multidisciplinary |
| Content Type |
Text |
| Resource Type |
Article |
| Subject |
Multidisciplinary |
