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The genetics of human short stature

Flores Island in Indonesia has a long history of hominin occupation, including by the extinct Homo floresiensis and a more recent settlement by modern humans. Furthermore, Flores has an extant population of pygmy humans, and H. floresiensis exhibited a diminutive adult size relative to other hominins. Tucci et al. examined genetic variation among 32 individuals, including 10 sequenced genomes, from a population of pygmies living close to the cave where H. floresiensis remains were discovered. These individuals exhibit signatures of polygenic selection explaining the short stature and have genomic content from both Neanderthals and Denisovans, but no additional archaic lineages. Thus, restricted height is under selection at this location and has evolved independently at least twice in hominins.
Science, this issue p. 511

Abstract

Flores Island, Indonesia, was inhabited by the small-bodied hominin species Homo floresiensis, which has an unknown evolutionary relationship to modern humans. This island is also home to an extant human pygmy population. Here we describe genome-scale single-nucleotide polymorphism data and whole-genome sequences from a contemporary human pygmy population living on Flores near the cave where H. floresiensis was found. The genomes of Flores pygmies reveal a complex history of admixture with Denisovans and Neanderthals but no evidence for gene flow with other archaic hominins. Modern individuals bear the signatures of recent positive selection encompassing the FADS (fatty acid desaturase) gene cluster, likely related to diet, and polygenic selection acting on standing variation that contributed to their short-stature phenotype. Thus, multiple independent instances of hominin insular dwarfism occurred on Flores.
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Supplementary Material

Summary

Materials and Methods
Figs. S1 to S26
Tables S1 to S10
References (26126)

Resources

File (aar8486_table_s4.xlsx)
File (aar8486_table_s5.xlsx)
File (aar8486_table_s6.xlsx)
File (aar8486_tucci_sm.pdf)

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Volume 361Issue 64013 August 2018
Pages: 511 - 516

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Received: 22 December 2017
Accepted: 22 June 2018

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Department of Ecology and Evolutionary Biology, Princeton University, Princeton, NJ, USA.
Lewis-Sigler Institute, Princeton University, Princeton, NJ, USA.
Department of Life Sciences and Biotechnologies, University of Ferrara, Ferrara, Italy.
Samuel H. Vohr
Department of Biomolecular Engineering, University of California, Santa Cruz, CA, USA.
Department of Ecology and Evolutionary Biology, Princeton University, Princeton, NJ, USA.
Lewis-Sigler Institute, Princeton University, Princeton, NJ, USA.
Benjamin Vernot
Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.
Matthew R. Robinson
Department of Computational Biology, Génopode, University of Lausanne, Lausanne, Switzerland.
Swiss Institute of Bioinformatics, Génopode, Quatier Sorge, Lausanne, Switzerland.
Department of Linguistic and Cultural Evolution, Max Planck Institute for the Science of Human History, Jena, Germany.
Department of Evolutionary Biology and Environmental Studies, University of Zurich, Switzerland.
Department of Genome Sciences, University of Washington, Seattle, WA, USA.
Wenqing Fu
Department of Genome Sciences, University of Washington, Seattle, WA, USA.
Genome Diversity and Diseases Laboratory, Eijkman Institute for Molecular Biology, Jakarta, Indonesia.
Genome Diversity and Diseases Laboratory, Eijkman Institute for Molecular Biology, Jakarta, Indonesia.
Department of Medical Biology, Faculty of Medicine, University of Indonesia, Jakarta, Indonesia.
Department of Genome Sciences, University of Washington, Seattle, WA, USA.
Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.
Guido Barbujani
Department of Life Sciences and Biotechnologies, University of Ferrara, Ferrara, Italy.
Peter M. Visscher
Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia.
Queensland Brain Institute, The University of Queensland, Brisbane, QLD, Australia.
Department of Ecology and Evolutionary Biology, Princeton University, Princeton, NJ, USA.
Lewis-Sigler Institute, Princeton University, Princeton, NJ, USA.
Department of Biomolecular Engineering, University of California, Santa Cruz, CA, USA.

Notes

*Corresponding author. Email: [email protected] (R.E.G.); [email protected] (J.M.A.)

Funding Information

NIH: R01GM110068

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Science
Volume 361|Issue 6401
3 August 2018
Submission history
Received:22 December 2017
Accepted:22 June 2018
Published in print:3 August 2018
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