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Document Type

Open Access Article

Andrea Bamberg Migliano, Department of Anthropology, University College London, London, UKFollow
Irene Gallego Romero, Leverhulme Centre for Human Evolutionary Studies, Department of Biological Anthropology, University of Cambridge, Cambridge, UK
Mait Metspalu, Department of Evolutionary Biology, University of Tartu and Estonian Biocentre, Tartu, Estonia
Matthew Leavesley, Archaeology Department, James Cook University, Cairns, Australia
Luca Pagani, Leverhulme Centre for Human Evolutionary Studies, Department of Biological Anthropology, University of Cambridge, Cambridge, UK
Tiago Antao, Leverhulme Centre for Human Evolutionary Studies, Department of Biological Anthropology, University of Cambridge, Cambridge, UK
Da-Wei Huang, Laboratory of Immunopathogenesis and Bioinformatics, Clinical Services Program, SAIC-Frederick Inc., National Cancer Institute at Frederick, Frederick, MD
Brad T. Sherman, Laboratory of Immunopathogenesis and Bioinformatics, Clinical Services Program, SAIC-Frederick Inc., National Cancer Institute at Frederick, Frederick, MD
Katharine Siddle, Leverhulme Centre for Human Evolutionary Studies, Department of Biological Anthropology, University of Cambridge, Cambridge, UK
Clarissa Scholes, Leverhulme Centre for Human Evolutionary Studies, Department of Biological Anthropology, University of Cambridge, Cambridge, UK
Georgi Hudjashov, Department of Evolutionary Biology, University of Tartu and Estonian Biocentre, Tartu, Estonia
Elton Kaitokai, University of Papua New Guinea, Port Moresby, Papua New Guinea
Avis Babalu, University of Papua New Guinea, Port Moresby, Papua New Guinea
Maggie Belatti, Leverhulme Centre for Human Evolutionary Studies, Department of Biological Anthropology, University of Cambridge, Cambridge, UK
Alex Cagan, Leverhulme Centre for Human Evolutionary Studies, Department of Biological Anthropology, University of Cambridge, Cambridge, UK
Bryony Hopkinshaw, Leverhulme Centre for Human Evolutionary Studies, Department of Biological Anthropology, University of Cambridge, Cambridge, UK
Colin Shaw, Leverhulme Centre for Human Evolutionary Studies, Department of Biological Anthropology, University of Cambridge, Cambridge, UK
Mari Nelis, Department of Evolutionary Biology, University of Tartu and Estonian Biocentre, Tartu, Estonia
Ene Metspalu, Department of Evolutionary Biology, University of Tartu and Estonian Biocentre, Tartu, Estonia
Reedik Mägi, Department of Evolutionary Biology, University of Tartu and Estonian Biocentre, Tartu, Estonia
Richard A. Lempicki, Laboratory of Immunopathogenesis and Bioinformatics, Clinical Services Program, SAIC-Frederick Inc., National Cancer Institute at Frederick, Frederick, MD
Richard Villems, Department of Evolutionary Biology, University of Tartu and Estonian Biocentre, Tartu, Estonia
Marta Mirazon Lahr, Leverhulme Centre for Human Evolutionary Studies, Department of Biological Anthropology, University of Cambridge, Cambridge, UK
Toomis Kivisild, Leverhulme Centre for Human Evolutionary Studies, Department of Biological Anthropology, University of Cambridge, Cambridge, UK

Abstract

Human pygmy populations inhabit different regions of the world, from Africa to Melanesia. In Asia, short-statured populations are often referred to as "negritos." Their short stature has been interpreted as a consequence of thermoregulatory, nutritional, and/or locomotory adaptations to life in tropical forests. A more recent hypothesis proposes that their stature is the outcome of a life history trade-off in high-mortality environments, where early reproduction is favored and, consequently, early sexual maturation and early growth cessation have coevolved. Some serological evidence of deficiencies in the growth hormone/insulin-like growth factor axis have been previously associated with pygmies’ short stature. Using genome-wide single-nucleotide polymorphism genotype data, we first tested whether different negrito groups living in the Philippines and Papua New Guinea are closely related and then investigated genomic signals of recent positive selection in African, Asian, and Papuan pygmy populations. We found that negritos in the Philippines and Papua New Guinea are genetically more similar to their nonpygmy neighbors than to one another and have experienced positive selection at different genes. These results indicate that geographically distant pygmy groups are likely to have evolved their short stature independently. We also found that selection on common height variants is unlikely to explain their short stature and that different genes associated with growth, thyroid function, and sexual development are under selection in different pygmy groups.

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