Message in a bottleneck: Nested founder effects from French Polynesia to Rapa Nui and Hawai'i.

Authors

Cole Shanks, Edward C Huang, Christophe Thomassin, Anne-Katrin Emde, Vahinetua Rodière, Mauricio Moraga, Karla Sandoval, Tony Merriman, Tristan Pascart, Andrés Moreno-Estrada, Stephane E Castel, Keolu Fox, Alexander G Ioannidis

Published in

Science (New York, N.Y.). Volume 394. Issue 6820. Pages 216-221. Oct 08, 2026. Epub Oct 08, 2026.

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 Hawai'i 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.

PMID:
42848896
Bibliographic data and abstract were imported from PubMed on 09 Oct 2026.

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