Founder effect

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Simple illustration of founder effect. The original population is on the left with three possible founder populations on the right.

In population genetics, the founder effect is the loss of genetic variation that occurs when a new population is established by a very small number of individuals from a larger population. It was first fully outlined by Ernst Mayr in 1952,^[1] using existing theoretical work by those such as Sewall Wright.^[2] As a result of the loss of genetic variation, the new population may be distinctively different, both genetically and phenotypically, from the parent population from which it is derived. In extreme cases, the founder effect is thought to lead to the speciation and subsequent evolution of new species.

In the figure shown, the original population has nearly equal numbers of blue and red individuals. The three smaller founder populations show that one or the other color may predominate (founder effect), due to random sampling of the original population. A population bottleneck may also cause a founder effect even though it is not strictly a new population.

The founder effect is a special case of genetic drift.^{[3] [4]} In addition to founder effects, the new population is often a very small population and so shows increased sensitivity to genetic drift, an increase in inbreeding, and relatively low genetic variation. This can be observed in the limited gene pool of Easter Islanders and those native to Pitcairn Island. Another example is the legendarily high deaf population of Martha's Vineyard which resulted in the famous Martha's Vineyard Sign Language.

[edit] Founder effects in island ecology

Founder populations are essential to the study of island biogeography and island ecology. A natural "blank slate" is not easily found, but a classic series of studies on founder population effects were done following the catastrophic 1883 eruption of Krakatoa, which erased all life on the island remnant. Another continuing study has been following the biocolonization of Surtsey, Iceland, a new volcanic island that erupted offshore between 1963 and 1967. An earlier event, the Toba eruption in Sumatra of about 73,000 YBP, covered some parts of India with 3–6 metres (9.8–20 ft) of ash, and must have coated the Nicobar Islands and Andaman Islands, much nearer in the ash fallout cone, with life-smothering layers, restarting their biodiversity from effectively zero.

[edit] Founder effects in human populations

Due to various migrations throughout human history, founder effects are somewhat common among humans in different times and places. The effective founder population of Quebec was only 2,600. After twelve to sixteen generations, with an eighty-fold growth but minimal gene dilution from intermarriage, Quebec has what geneticists call optimal linkage disequilibrium (genetic sharing).^[5] The result: far fewer genetic variations, including those that have been well studied because they are connected with inheritable diseases.

Founder effects can also occur naturally as competing genetic lines die out. This means that an effective founder population consists only of those whose genetic print is identifiable in subsequent populations. Because in sexual reproduction, genetic recombination ensures that with each generation, only half the genetic material of a parent is represented in the offspring, some genetic lines may die out entirely, even though there are numerous progeny. A recent study^[6] concluded that of the people migrating across the Bering land bridge at the close of the ice age, only 70 left their genetic print in modern descendants, a minute effective founder population— which is easily misread as though implying that only 70 people crossed to North America. The misinterpretations of "Mitochondrial Eve" are a case in point: it may be hard to explain that a "mitochondrial Eve" was not the only woman of her time.

In humans, founder effects can arise from cultural isolation, and inevitably, endogamy. For example, the Amish populations in the United States, which have grown from a very few founders, have not recruited newcomers, and tend to marry within the community, exhibit founder effects. Though still rare absolutely, phenomena such as polydactyly (extra fingers and toes, a symptom of Ellis-van Creveld syndrome) are more common in Amish communities than in the US population at large.^[7] There is also the presence of high cases of fumarase deficiency among the 10,000 members of the Fundamentalist Church of Jesus Christ of Latter Day Saints community which practices both endogamy and polygamy, where it is estimated 75 to 80 percent of the community are blood relatives of just two men - founders John Y. Barlow and Joseph Smith.^[8]

Another example is the frequency of total color-blindness among the inhabitants of Pingelap, an island in Micronesia. In approximately 1775, a typhoon reduced the population of the island to only 20. Among survivors, one of them was heterozygous for achromatopsia. After few generations, the prevalence of achromatopsia is 5% of population and 30% as carriers ^[9][10](by comparison, in the United States, only 0.003% of population have complete achromatopsia^[11]).

[edit] See also

• Small population size
• Cousin couple

[edit] References

• Mayr, E. 1954. Change of genetic environment and evolution. In Huxley, J. (ed) Evolution as a Process, Allen and Unwin, London.
• Mayr, E. 1963. Animal Species and Evolution. Harvard University Press, Cambridge, Massachusetts.

[edit] External links

• Founder effect
• Quebec Founder Population