Founder effect

In population genetics, the founder effect refers to the loss of genetic variation when a new colony is established by a very small number of individuals from a larger population. It was first fully outlined by Ernst Mayr in 1952 [Provine, W.B. 2004. "Ernst Mayr: Genetics and Speciation" Genetics 167: 1041-1046. [http://www.genetics.org/cgi/content/full/167/3/1041] ] , using existing theoretical work by those such as Sewall Wright. 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. The founder effect is a feature that can also occur in memetic evolution.

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.

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.

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 Krakatau (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 m 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.

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). [http://www.genizon.com/english/discovery/founder.html genizon.com] ] 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 [Hey, Jody, 2005. "On the Number of New World Founders: A Population Genetic Portrait of the Peopling of the Americas" in "PLoS Biol" 2005 May 24;3(6):e193 [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15898833&query_hl=1 webpage] ] 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. [McKusick, V. A.; Egeland, J. A.; Eldridge, R.; Krusen, D. E.: Dwarfism in the Amish. I. The Ellis-van Creveld syndrome. Bull. Johns Hopkins Hosp. 115: 306-336, 1964. PMID 14217223] 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, a breakaway sect 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 Jessop. [http://www.boston.com/news/nation/articles/2007/06/14/us_polygamist_community_faces_rare_genetic_disorder/ boston.com] ]

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 [cite journal |author=Hussels IE, Morton NE |title=Pingelap and Mokil Atolls: achromatopsia |journal=Am. J. Hum. Genet. |volume=24 |issue=3 |pages=304–9 |year=1972 |pmid=4555088 |doi=] [cite book|title=The Island of the Colour-blind|first=Oliver|last=Sacks|authorlink=Oliver Sacks|year=1997|publisher=Picador|isbn=0-330-35887-1] (by comparison, in the United States, only 0.003% of population have complete achromatopsia [cite web|url=http://www.achromatopsia.org/|title=The Achromatopsia Group|accessdate=2007-06-13] ).

ee also

*Small population size

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.

External links

* [http://www.blackwellpublishing.com/ridley/a-z/Founder_effect.asp Founder effect]
* [http://www.genizon.com/english/discovery/founder.html Quebec Founder Population]