Message in a bottleneck: Nested founder effects from French Polynesia to Rapa Nui and Hawaiʻi

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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Publication Details

Journal
Science
Published
2026-10-08
DOI
https://doi.org/10.1126/science.aec7662
Primary Topic
Genetic diversity and population structure
Type
article
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article

Message in a bottleneck: Nested founder effects from French Polynesia to Rapa Nui and Hawaiʻi

Tristan Pascart, Tony Raymond Merriman, Alexander G. Ioannidis, Anne‐Katrin Emde et al.
Science
Genetic diversity and population structure
article

Message in a bottleneck: Nested founder effects from French Polynesia to Rapa Nui and Hawaiʻi

Tristan Pascart, Tony Raymond Merriman, Alexander G. Ioannidis, Anne‐Katrin Emde, Cole Shanks, Vahinetua Rodière, Stephane E. Castel, Karla Sandoval, Mauricio L. Moraga, Keolu Fox, Andrés Moreno‐Estrada, Edward C. Huang, Christophe Thomassi
article en

Abstract

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.

ScienceVol. 394(6820)
Université Catholique de Lille (FR), University of California, Santa Cruz (US), University of Alabama at Birmingham (US), University of California San Diego (US), Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional (MX), University of Chile (CL), Stanford University (US)
Openalex Percentile: Top 21%
Genetic diversity and population structure
DOIOpen Access PDFOpenAlex
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