Citation
Genetic Basis of Total Colourblindness Among the Pingelapese Islanders
TL;DR
Achromatopsia affects 6-10% of Pingelapese (vs 0.003% globally)
Identifies the CNGB3 gene mutation causing achromatopsia in the Pingelapese population of Micronesia. The condition affects 6-10% of the population (versus 0.003% globally) due to a founder effect following a 1775 typhoon that reduced the population to approximately 20 survivors.
Demonstrates how catastrophic events can permanently alter population composition through random sampling, applicable to understanding how market crashes, funding droughts, or other 'bottlenecks' shape organizational trajectories.
Key Findings from Sundin & al. (2000)
- Achromatopsia affects 6-10% of Pingelapese (vs 0.003% globally)
- CNGB3 gene mutation identified as cause
- Founder effect from 1775 typhoon reducing population to ~20 survivors