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The Family Tree of Blue-Eyed Individuals

February 6th, 2008 in DNA in the News |

iStock_000003075935XSmall Researchers at the University of Copenhagen suggest that a mutation that arose around 6,000 to 10,000 years ago was inherited by every individual who has blue eyes (original study here). This mutation, located within an intron in a gene called HERC2, reduces the activity of a neighboring gene called OCA2. The researchers located the same mutation in 155 blue-eyed individuals from Denmark as well as in 5 individuals in Turkey and 2 in Jordan. From ScienceDaily:

“‘Originally, we all had brown eyes,’ said Professor Eiberg from the Department of Cellular and Molecular Medicine. ‘But a genetic mutation affecting the OCA2 gene in our chromosomes resulted in the creation of a ‘switch,’ which literally ‘turned of’ the ability to produce brown eyes.”

This is the big question: How do the researchers come to the conclusion that everyone with the blue eye gene is descended from the same blue-eyed individual?

The researchers make this conclusion because 97% of the blue-eyed individuals in their study had the same set of 13 SNP mutations in the OCA2 and HERC2 genes on chromosome 15. The other 3% differed by only 1 to 3 mutations. The argument goes that if the the rs12913832(G) mutation had happened randomly in populations around the world, then it would have sprung up in different haplotypes (that is, the 13 SNPs in the OCA2 and HERC2 genes would be randomly different amongst those populations). Instead, 97% of blue-eyed people tested have exactly the same SNP haplotype at that particular location, suggesting that the rs12913832(G) mutation only successfully arose once and has spread around the world in conjunction with those 13 SNPs.

Why are there so many blue-eyed people in the Scandinavia and Baltic areas?

The authors suggest that there is a positive selective force to select for blue eyes in this region. Theories include “selection for pigmentation traits which include UV expositor causing skin cancer, vitamin D deficiency, and also sexual selection.”

rs12913832 is tested by 23andMe, SeqWright and deCODEme (from SNPedia).

More information:

  • SNPedia
  • Yann Klimentidis’ Weblog
  • ScienceDaily

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29 Responses to “ The Family Tree of Blue-Eyed Individuals ”

  1. # 1 Cities and Towns to visit in Washington State Says:
    February 6th, 2008 at 10:59 am

    The Family Tree of Blue-Eyed IndividualsBy Blaine Bettinger Researchers at the University of Copenhagen suggest that a mutation that arose around 6000 to 10000 years ago was inherited by every individual who has blue eyes (original study here). This mutation, located within an intron in a

  2. # 2 Skin Cancer Information Says:
    February 6th, 2008 at 7:00 am

    Theories include “selection for pigmentation traits which include UV expositor causing skin cancer, vitamin D deficiency, and also sexual selection.” rs12913832 is tested by 23andMe, SeqWright and deCODEme (from SNPedia). … Original post byBlaine Bettinger

  3. # 3 Roots Television | Megan's Roots World Says:
    February 7th, 2008 at 8:42 pm

    cool article in The Genetic Genealogist

  4. # 4 Shelina's Creations Says:
    February 15th, 2008 at 2:21 pm

    new ways genealogy is being used? Science and genealogy have gotten together to make DNA analysis. First, they said that blue eyes can be traced through one single ancestor. This was done purely on a science basis, with no actual genealogy being done.This articleexplains how they know, but I would imagine that someone will do some family tree study, probably of famous people with blue eyes. This may be hard though since the mutation apparently happened very long ago.

  5. # 5 Gene Sherpas: Personalized Medicine and You Says:
    February 17th, 2008 at 3:33 am

    by a “mitochondrialist” (I would love to see what that conference looked like) the MitoWheel is poised to help those who need just a little more visual model…..May the Force Be With You. At least if you have blue eyes, then things are looking up.Blaineover at Genetic Genealogist covers that family tree. Now I bet Tom Cruise doesn’t feel as special anymore. Other things make us special. The stuff with which we arrogantly called junk, including introns is proving to make us pretty special.

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  8. # 8 Patricia Cooper Says:
    February 9th, 2008 at 8:24 am

    I find it very hard to believe that we all descended from people in Africa. Scandinavian people look and talk very differently to Black people and I think that we three or four different species evolved separately. These are Black, Asian/Arabic, Blonde/Blue Eyed and Chinese. The racial DNA fingerprint is very different for different racial groups. I would love to find out my genetic ancestry. It has been passed down by my Father’s family that we are descendents of Archbishop Stephen Langton who helped to write the Magna Carta (my maiden name is Langton) Please could I win your free competition??? Pretty please, please, please?

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  10. # 10 Genea-Musings: February 2008 Says:
    February 11th, 2008 at 5:55 am

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  11. # 11 Postgenomic - story details Says:
    February 11th, 2008 at 8:33 am

    [...] wikipediaDo you have blue eyes? If yes, youre genetically connected to Paul Newman, Brad… The Family Tree of Blue-Eyed Individuals  posted to The Genetic Genealogist on Wed 6th Feb 08Researchers at the University of [...]

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    February 11th, 2008 at 1:22 pm

    [...] this contest, just go to buick.ancestry.com. You’ll also find a… Topics: DNA in the News The Family Tree of Blue-Eyed Individuals – 5 days ago Researchers at the University of Copenhagen suggest that a mutation that arose around [...]

  13. # 13 Blue-Eyed Genealogy Study - Dogpile Web Search Says:
    February 15th, 2008 at 2:08 pm

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  14. # 14 February In Review - What Can I Learn From My Visitors? » The Genetic Genealogist Says:
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  15. # 15 adam moft Says:
    March 10th, 2008 at 12:08 pm

    Historically only people in North of the Black Sea were described as having blue (or light) eyes and blond Hair. Those people were called Saka or Goths, they the Goths claimed they came from Scania.
    Light eye and light hair are connected to the race Goths who lived in South Scandinavia , they are the R haplogroup for men and the K haplogroup for women, both these two haplogroups shared the mutation for thousands of years and then spread it to other haplogroups through marriage!
    The Blue eye mutation is concentrated in countries that have high level of R haplogroup (either R1a1 or R1b) such as Europe and East Europe.
    the mutation needed 80 years of continuous environmental exposure ( such as living on human flesh for survival) as documented by Herodotus concerning Goths , something they learned from their encounter with the Deluge ( great flood in Scythia) at Noah time 6000 years ago! when they started to have to eat human flesh of the dead, their only source of food immediately after the Deluge for survivors!

  16. # 16 Mormons and Native Americans DNA evidence - Page 4 - JREF Forum Says:
    March 18th, 2008 at 3:36 pm

    [...] and indicate ancestry there. For example, this is what we’ve discovered about blue eyes recently: http://www.thegeneticgenealogist.com…d-individuals/ http://haplogroup-i.com/2008/02/01/b…-are-mutation/ Blue eyed Mormons show ancestry in the [...]

  17. # 17 RootsWeb: TOVREA-L [TOVREA] blue eyes Says:
    March 24th, 2008 at 4:49 pm

    [...] Tovrea Mason, Thomas L, and John. Below is an article about blue eyes from the Genetic Genealogis. http://www.thegeneticgenealogist.com/2008/02/06/the-family-tree-of-blue-eyed-individuals/ Gladys Just FYI, for our new members. Rev Thomas Tovrea b 1791 is a son of Old Thomas Toberry [...]

  18. # 18 Science and Reason: Blue eyes Says:
    August 4th, 2008 at 7:38 am

    [...] mutations that cause blue eyes but for now, the signs point to a single change.Further reading:The Family Tree of Blue-Eyed Individuals (2/6/08) – blog article that gives a bit more of the genetic detailsBlue eyed people have a [...]

  19. # 19 Genea-Musings: Best of the Genea-Blogs - February 3-9, 2008 Says:
    November 27th, 2008 at 7:49 pm

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  20. # 20 Roots Television | Megan's Roots World: February 2008 Says:
    November 29th, 2008 at 10:20 pm

    [...] a cool article in The Genetic Genealogist about those of us with blue eyes. Looks like we might be our own special branch of mutants! Can’t [...]

  21. # 21 BlogBookMark.com - Welcome - Blue eyes Says:
    March 28th, 2009 at 1:10 pm

    [...] change.Further reading:One Common Ancestor Behind Blue Eyes – 1/31/08 article at LiveScienceThe Family Tree of Blue-Eyed Individuals (2/6/08) – blog article that gives a bit more of the genetic detailsBlue eyed people have a [...]

  22. # 22 Mitchell Says:
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  23. # 23 windows 7 tutorial Says:
    June 19th, 2009 at 8:48 pm

    thanks for info very nice May the Force Be With You. At least if you have blue eyes, then things are looking up.Blaineover at Genetic Genealogist covers that family tree. Now I bet Tom Cruise doesn’t feel as special anymore. Other things make us special. The stuff with which we arrogantly called junk, including introns is proving to make us pretty special.

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  24. # 24 Ponto Says:
    August 9th, 2009 at 6:38 am

    All that fuss over an optical illusion. Blue eyes are blue like the sky is blue, Rayleigh scattering. No big deal. All eyes have the same pigment, melanin, which is dark brown. Difference in iris color is the concentration of melanin. Blue eyes have defective, mutated controllers for melanin production in the iris. Eyes are mostly brown for a good reason. Look up melanin and see how important it is.

  25. # 25 A Rodriguez Says:
    October 29th, 2009 at 4:56 pm

    Hi Am interested to know where could possibly be the origin of blue-eyed Chinese. I am Filipino but my mother’s mother (my grandmother) was half-Chinese and she looked a very fair Chinese. However curiously, her eyes were dark blue in colour, hardly noticeable due to the smallness of her, very Chinese eyes. Can anyone help me understand why she would have these eye colour? Much appreciated., Thanks, Anne

  26. # 26 baju import Says:
    August 18th, 2010 at 5:46 am

    so, with this theory and research, the blue eyes are from the same individual 6000 – 10000 years ago. In Indonesia, especially in Nangroe Aceh Darusalaam, many local person who have the blue eyes too. Is it possible, that they are are descended from the same blue-eyed individual in europe? :D

  27. # 27 From the ‘Out of Africa’ files…… March of the Titans « Thewhitechrist's Weblog Says:
    August 17th, 2011 at 10:00 am

    [...] http://www.thegeneticgenealogist.com/2008/02/06/the-family-tree-of-blue-eyed-individuals/ [...]

  28. # 28 LisaV Says:
    June 20th, 2012 at 10:28 pm

    Very interesting article. I have green eyes and also heard that green eyes are a mutation. This article would support that since it states everyone originally had brown eyes. Still, very interesting topic.

    http://www.classicmemories.com/dvd-slideshows.html

  29. # 29 Curt Larrow Says:
    March 11th, 2013 at 7:01 pm

    Variation in the colour of the eyes from brown to green can all be explained by the amount of melanin in the iris, but blue-eyed individuals only have a small degree of variation in the amount of melanin in their eyes. “From this we can conclude that all blue-eyed individuals are linked to the same ancestor,” says Professor Eiberg. “They have all inherited the same switch at exactly the same spot in their DNA.” Brown-eyed individuals, by contrast, have considerable individual variation in the area of their DNA that controls melanin production.:

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