The bottleneck effect is a sharp reduction in population size due to environmental events.The bottleneck effect is a sharp reduction in population size, leading to an impoverishment of the gene pool (the total set of all genes). Unlike the founder effect, where a small group separates voluntarily, here the reduction is forced and catastrophic. The survivors are a random sample, not reflecting the former diversity. When the population recovers, it is genetically homogeneous, which increases the risk of extinction from diseases or environmental changes. A famous example is cheetahs: DNA analysis shows that all modern cheetahs are so closely related that they can accept skin grafts from each other without rejection.
The term entered scientific usage in the mid-20th century with the development of population genetics. One of the first to describe it in detail was Sewall Wright in the context of his theory of genetic drift. Classic studies of cheetah genetics in the 1980s, conducted by Stephen O'Brien and colleagues, showed extremely low diversity, explained by a Pleistocene bottleneck. Later, genetic data confirmed bottlenecks in many species, including humans, the northern elephant seal, and bison.
During a sharp population decline, alleles are lost randomly, regardless of their adaptive value. Genetic drift in a small population rapidly fixes some alleles and eliminates others. After population recovery, the population bears the imprint of this random process: many loci (DNA regions) are monomorphic, and harmful recessive alleles can reach high frequencies. The effect is especially noticeable in species with low mutation rates, as new mutations cannot replenish the lost diversity quickly enough.
Helps understand why cheetahs are so similar to each other and vulnerable to diseases — their population underwent a sharp decline about 10,000 years ago.
Humanity also passed through a bottleneck: about 70,000 years ago, after the eruption of the Toba supervolcano, the population of our ancestors may have dropped to a few thousand individuals.


