Journal Article

Unexpected Island Effects at an Extreme: Reduced Y Chromosome and Mitochondrial DNA Diversity in Nias

Mannis van Oven, Johannes M. Hämmerle, Marja van Schoor, Geoff Kushnick, Petra Pennekamp, Idaman Zega, Oscar Lao, Lea Brown, Ingo Kennerknecht and Manfred Kayser

in Molecular Biology and Evolution

Published on behalf of Society for Molecular Biology and Evolution

Volume 28, issue 4, pages 1349-1361
Published in print April 2011 | ISSN: 0737-4038
Published online November 2010 | e-ISSN: 1537-1719 | DOI: https://dx.doi.org/10.1093/molbev/msq300
Unexpected Island Effects at an Extreme: Reduced Y Chromosome and Mitochondrial DNA Diversity in Nias

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The amount of genetic diversity in a population is determined by demographic and selection events in its history. Human populations which exhibit greatly reduced overall genetic diversity, presumably resulting from severe bottlenecks or founder events, are particularly interesting, not least because of their potential to serve as valuable resources for health studies. Here, we present an unexpected case, the human population of Nias Island in Indonesia, that exhibits severely reduced Y chromosome (non-recombining portion of the Y chromosome [NRY]) and to a lesser extent also reduced mitochondrial DNA (mtDNA) diversity as compared with most other populations from the Asia/Oceania region. Our genetic data, collected from more than 400 individuals from across the island, suggest a strong previously undetected bottleneck or founder event in the human population history of Nias, more pronounced for males than for females, followed by subsequent genetic isolation. Our findings are unexpected given the island’s geographic proximity to the genetically highly diverse Southeast Asian world, as well as our previous knowledge about the human history of Nias. Furthermore, all NRY and virtually all mtDNA haplogroups observed in Nias can be attributed to the Austronesian expansion, in line with linguistic data, and in contrast with archaeological evidence for a pre-Austronesian occupation of Nias that, as we show here, left no significant genetic footprints in the contemporary population. Our work underlines the importance of human genetic diversity studies not only for a better understanding of human population history but also because of the potential relevance for genetic disease–mapping studies.

Keywords: Nias; Austronesian; human genetic diversity; population bottleneck; Y chromosome; mitochondrial DNA

Journal Article.  7839 words.  Illustrated.

Subjects: Evolutionary Biology ; Molecular and Cell Biology

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