Message in a bottleneck: Nested founder effects from French Polynesia to Rapa Nui and Hawaiʻi
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.
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Authors: Cole Shanks, Edward C. Huang, Christophe Thomassi, Anne‐Katrin Emde, Vahinetua Rodière, Mauricio L. Moraga, Karla Sandoval, Tony Raymond Merriman, Tristan Pascart, Andrés Moreno‐Estrada, Stephane E. Castel, Keolu Fox, Alexander G. Ioannidis
Institutions: University of California San Diego, University of Alabama at Birmingham, Stanford University, University of California, Santa Cruz, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional, University of Chile, Université Catholique de Lille