Message in a bottleneck: Nested founder effects from French Polynesia to Rapa Nui and Hawaiʻi
Open accessAbstract
Founder effects can lead to strong, population-specific allele frequency differentiation, including autosomal recessive conditions. Their characterization in European-descent groups, such as the Finnish and Amish, has resulted in actionable genetic tests for each. We show that Polynesians experienced order-of-magnitude stronger cumulative founder effects during their settlement of Eastern Polynesia. Using whole-genome sequences spanning Polynesia, we show that two of the most bottlenecked populations are Hawaiʻi and Easter Island (Rapa Nui) and that these two most closely genetically related yet geographically distant islands were likely settled by the same ultravoyagers with earlier ancestral roots in Mangareva. We identify clinical genetic variation generated by this sequence of successive oceanic founder events, including a loss-of-function FAN1 mutation common in Eastern Polynesia (>1%) but entirely absent from gnomAD.
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Cited by
Still being checked.
- Authors
- Shanks, C., Huang, E. C., Thomassin, C., Emde, A.-K., Rodière, V., Moraga, M., Sandoval, K., Merriman, T., Pascart, T., Moreno-Estrada, A., Castel, S. E., Fox, K., & Ioannidis, A. G.
- Affiliations
- University of California, Santa Cruz (US)
- Stanford University (US)
- Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.
- Variant Bio, Seattle, WA, USA.
- Université Catholique de Lille (FR)
- University of Chile (CL)
- Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional (MX)
- University of Alabama at Birmingham (US)
- Aging Research Center, Cinvestav Sede Sur, Center for Research and Advanced Studies of the National Polytechnic Institute, Mexico City, Mexico.
- University of California San Diego (US)
- Corresponding author
- Shanks, Cole
- Huang, Edward C.
- Fox, Keolu
- Ioannidis, Alexander G.
- ORCID
- Venue
- Science
- Published
- 2026-10-08
- Volume
- 394
- Issue
- 6820
- Pages
- 216-221
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC13681287
- OpenAlex
- W7214095574
- Semantic Scholar
- a987f0ff61b9e9c5f1071565bdf2eba3322465db
- Cited by
- 0
- References
- 66
- FWCI
- 0.00
- Type
- journal article
- Language
- en
- Open access
- green
- pmc.ncbi.nlm.nih.gov
- Locations
- Science (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Zenodo (CERN European Organization for Nuclear Research) (cc-by)
- Funders
- National Human Genome Research Institute (T32HG012344, U01HG009080)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Social Sciences › Geography, Planning and Development › Pacific and Southeast Asian Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Keywords
- founder effect, population bottleneck, human migration, Polynesian migration, Easter Island, Tahiti, Hawaii, genetic ancestry, population genetics
- MeSH terms
- Whole Genome Sequencing, Loss of Function Mutation, Pacific Island People, Endodeoxyribonucleases, Exodeoxyribonucleases, Gene Frequency, Hawaii, Humans, Polynucleotide Adenylyltransferase, Polynesia, Genetic Variation, Founder Effect, Multifunctional Enzymes
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