Blue-eyed humans have a single common ancestor

[Ilma]

https://sites.psu.edu/siowfa16/files/2016/11/eye-03-1yfo381.jpg

Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression

Authors : Hans Eiberg, Jesper Troelsen, Mette Nielsen, Annemette Mikkelsen, Jonas Mengel-From, Klaus W. Kjaer, Lars Hansen

New research shows that people with blue eyes have a single, common ancestor. A team at the University of Copenhagen have tracked down a genetic mutation which took place 6-10,000 years ago and is the cause of the eye colour of all blue-eyed humans alive on the planet today.

What is the genetic mutation ?

"Originally, we all had brown eyes," said Professor Hans 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 off" the ability to produce brown eyes." The OCA2 gene codes for the so-called P protein, which is involved in the production of melanin, the pigment that gives colour to our hair, eyes and skin. The "switch," which is located in the gene adjacent to OCA2 does not, however, turn off the gene entirely, but rather limits its action to reducing the production of melanin in the iris -- effectively "diluting" brown eyes to blue. The switch's effect on OCA2 is very specific therefore. If the OCA2 gene had been completely destroyed or turned off, human beings would be without melanin in their hair, eyes or skin colour -- a condition known as albinism.

The human eye color is a quantitative trait displaying multifactorial inheritance. Several studies have shown that the OCA2 locus is the major contributor to the human eye color variation. By linkage analysis of a large Danish family, we finemapped the blue eye color locus to a 166 Kbp region within the HERC2 gene. By association analyses, we identified two SNPs within this region that were perfectly associated with the blue and brown eye colors: rs12913832 and rs1129038. Of these, rs12913832 is located 21.152 bp upstream from the OCA2 promoter in a highly conserved sequence in intron 86 of HERC2. The brown eye color allele of rs12913832 is highly conserved throughout a number of species. As shown by a Luciferase assays in cell cultures, the element significantly reduces the activity of the OCA2 promoter and electrophoretic mobility shift assays demonstrate that the two alleles bind different subsets of nuclear extracts.

One single haplotype, represented by six polymorphic SNPs covering half of the 3′ end of the HERC2 gene, was found in 155 blue-eyed individuals from Denmark, and in 5 and 2 blue-eyed individuals from Turkey and Jordan, respectively. Hence, our data suggest a common founder mutation in an OCA2 inhibiting regulatory element as the cause of blue eye color in humans. In addition, an LOD score of Z = 4.21 between hair color and D14S72 was obtained in the large family, indicating that RABGGTA is a candidate gene for hair color.

Limited genetic variation

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.

Professor Eiberg and his team examined mitochondrial DNA and compared the eye colour of blue-eyed individuals in countries as diverse as Jordan, Denmark and Turkey. His findings are the latest in a decade of genetic research, which began in 1996, when Professor Eiberg first implicated the OCA2 gene as being responsible for eye colour.

Nature shuffles our genes

The mutation of brown eyes to blue represents neither a positive nor a negative mutation. It is one of several mutations such as hair colour, baldness, freckles and beauty spots, which neither increases nor reduces a human's chance of survival. As Professor Eiberg says, "it simply shows that nature is constantly shuffling the human genome, creating a genetic cocktail of human chromosomes and trying out different changes as it does so."

Sources :

-Complete article : https://link.springer.com/article/10.1007%2Fs00439-007-0460-x
-http://news.ku.dk/all_news/2008/blue-eyes/
-https://www.sciencedaily.com/releases/2008/01/080130170343.htm
-http://www.biospace.com/News/blue-eyed-humans-have-a-single-common-ancestor/411296

[PixieDust]

They also only appear blue but in reality aren't. Very interesting color mutation!

[Ilma]

They also only appear blue but in reality aren't. Very interesting color mutation!

Yes it seems like european eyes are structurally looking blue. Lack of melanin in the iris keep them looking like that by lack of pigment (brown pigment = melanin). They are not pigmented and it gives them that "blue" color :) weird thing but looking beautiful !

[Rethel]

Really?
http://blog.africageographic.com/safari-blog/files/2012/05/Vanessa-Bristow-1.jpg

[Kamal900]

I guess the blue eyed Europeans have the same ancestry as Bashar al-Assad and my paternal grand father. Interesting.

[Lucas]

Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression

Authors : Hans Eiberg, Jesper Troelsen, Mette Nielsen, Annemette Mikkelsen, Jonas Mengel-From, Klaus W. Kjaer, Lars Hansen

New research shows that people with blue eyes have a single, common ancestor. A team at the University of Copenhagen have tracked down a genetic mutation which took place 6-10,000 years ago and is the cause of the eye colour of all blue-eyed humans alive on the planet today.

What is the genetic mutation ?

Outdated, it's from 2008. No we know for example from this recent 2017 paper that light eyes appeared even 42 000 ears ago.

Genomics of Mesolithic Scandinavia reveal colonization routes and high-latitude adaptation
http://www.biorxiv.org/content/early/2017/07/30/164400


Such results suggest that the blue eye-color allele is rather old. Using an ABC modeling
approach Nakagome et al. (186), predicted that the light-pigmentation allele at rs12913832
emerged around 42,000 years ago or earlier; a date close in time to the initial peopling of Europe.
A plausible scenario of the origin of the blue-eye mutation that reconciles our results with
findings from other studies is one where this variant appeared in an ancestral population before
the ancestors of the WHG migrated from Near East into West and Central Europe

[Rethel]

Outdated, it's from 2008. Now we know for example from this recent 2017 paper that light eyes appeared even 42 000 ears ago.

No, we don;t know. Someone just strzelił some big number to be more shocking and sensationical.

[RN97]

Guess who's back? Back again. Illma is back. Tell a friend.
But yh, this is very old and blue eyes are much older than so as Mklukas pointed out.

[Sekarotuinen]

Hello my fellow blue eyed Aryans.

[Norb]

Hello my fellow blue eyed Aryans.

what is your y-dna?

[Sekarotuinen]

what is your y-dna?None-existant.

[Rethel]

None-existant.

Rather: not wedded yet...

[Norb]

None-existant.

no y-dna = no Aryan, sorry

[Harkonnen]

Rather: not wedded yet...

The fact that she is studying to become a doctor and not a plumber is a very strong indication that her dad is N1c1 and not R1a1.

[Cristiano viejo]

I guess the blue eyed Europeans have the same ancestry as Bashar al-Assad and my paternal grand father. Interesting.

hahaha good one, man. A lot of my nearest relatives have blue eyes. That makes us family, bro :yo:

[cosmoo]

high-latitude adaptation
Blue eyes are not "high-latitude adaptation", they have nothing to do with nightvision ability, stop with this pseudoscientific bullshit already.
All Europeans from that period tested so far were dark eyed. Only in Mesolithic (when the climate was far warmer) did the blue eyes appear in considerable quantity.

[Kamal900]

hahaha good one, man. A lot of my nearest relatives have blue eyes. That makes us family, bro :yo:

Can be said about my girl friend and her mother(they're Palestinians):
https://image.ibb.co/bMgxpv/1511335_666133933427743_1488167217_n.jpg
https://image.ibb.co/miBxpv/1231491_574597612581376_577599311_n.jpg

[Rethel]

Can be said about my girl friend and her mother(they're Palestinians):

If you want to have such girl friend, you have to be R1 - now you have no choice :laugh:

[Kamal900]

If you want to have such girl friend, you have to be R1 - now you have no choice :laugh:

Once my Y-DNA results comes in then we'll see, rofl.

[Rethel]

Once my Y-DNA results comes in then we'll see, rofl.

Write them, that they must tested you as long, until they will have the right (R1 of course) result :laugh:

p.s. when do you have the suspected term?

[Ilma]

Outdated, it's from 2008. No we know for example from this recent 2017 paper that light eyes appeared even 42 000 ears ago.

Genomics of Mesolithic Scandinavia reveal colonization routes and high-latitude adaptation
http://www.biorxiv.org/content/early/2017/07/30/164400

Thanks for sharing more recent study about that subject. I just found out this one and thought it was pretty interesting one but you're right, that study is old yet. Everything new is welcome.

[Finnish Swede]

https://sites.psu.edu/siowfa16/files/2016/11/eye-03-1yfo381.jpg

Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression

Authors : Hans Eiberg, Jesper Troelsen, Mette Nielsen, Annemette Mikkelsen, Jonas Mengel-From, Klaus W. Kjaer, Lars Hansen

New research shows that people with blue eyes have a single, common ancestor. A team at the University of Copenhagen have tracked down a genetic mutation which took place 6-10,000 years ago and is the cause of the eye colour of all blue-eyed humans alive on the planet today.

What is the genetic mutation ?

"Originally, we all had brown eyes," said Professor Hans 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 off" the ability to produce brown eyes." The OCA2 gene codes for the so-called P protein, which is involved in the production of melanin, the pigment that gives colour to our hair, eyes and skin. The "switch," which is located in the gene adjacent to OCA2 does not, however, turn off the gene entirely, but rather limits its action to reducing the production of melanin in the iris -- effectively "diluting" brown eyes to blue. The switch's effect on OCA2 is very specific therefore. If the OCA2 gene had been completely destroyed or turned off, human beings would be without melanin in their hair, eyes or skin colour -- a condition known as albinism.

The human eye color is a quantitative trait displaying multifactorial inheritance. Several studies have shown that the OCA2 locus is the major contributor to the human eye color variation. By linkage analysis of a large Danish family, we finemapped the blue eye color locus to a 166 Kbp region within the HERC2 gene. By association analyses, we identified two SNPs within this region that were perfectly associated with the blue and brown eye colors: rs12913832 and rs1129038. Of these, rs12913832 is located 21.152 bp upstream from the OCA2 promoter in a highly conserved sequence in intron 86 of HERC2. The brown eye color allele of rs12913832 is highly conserved throughout a number of species. As shown by a Luciferase assays in cell cultures, the element significantly reduces the activity of the OCA2 promoter and electrophoretic mobility shift assays demonstrate that the two alleles bind different subsets of nuclear extracts.

One single haplotype, represented by six polymorphic SNPs covering half of the 3′ end of the HERC2 gene, was found in 155 blue-eyed individuals from Denmark, and in 5 and 2 blue-eyed individuals from Turkey and Jordan, respectively. Hence, our data suggest a common founder mutation in an OCA2 inhibiting regulatory element as the cause of blue eye color in humans. In addition, an LOD score of Z = 4.21 between hair color and D14S72 was obtained in the large family, indicating that RABGGTA is a candidate gene for hair color.

Limited genetic variation

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.

Professor Eiberg and his team examined mitochondrial DNA and compared the eye colour of blue-eyed individuals in countries as diverse as Jordan, Denmark and Turkey. His findings are the latest in a decade of genetic research, which began in 1996, when Professor Eiberg first implicated the OCA2 gene as being responsible for eye colour.

Nature shuffles our genes

The mutation of brown eyes to blue represents neither a positive nor a negative mutation. It is one of several mutations such as hair colour, baldness, freckles and beauty spots, which neither increases nor reduces a human's chance of survival. As Professor Eiberg says, "it simply shows that nature is constantly shuffling the human genome, creating a genetic cocktail of human chromosomes and trying out different changes as it does so."

Sources :

-Complete article : https://link.springer.com/article/10.1007%2Fs00439-007-0460-x
-http://news.ku.dk/all_news/2008/blue-eyes/
-https://www.sciencedaily.com/releases/2008/01/080130170343.htm
-http://www.biospace.com/News/blue-eyed-humans-have-a-single-common-ancestor/411296


Any idea which (new?) mutation causes light grey eyes (and not blue eyes)? How old it might be and how widely spreaded among of different ethnics?

[Dick]

Thanks for sharing more recent study about that subject. I just found out this one and thought it was pretty interesting one but you're right, that study is old yet. Everything new is welcome.

Since when are you a mod? Congrats :love0037:

[Starseed88]

This is interesting and Punjabis share a common ancestor with these people where the gene originated in Ukraine. Plus, a good example is Nikki Haley’s daughter who has pure blue eyes who’s both parents carried the gene even though one is Punjabi Indian and the other is Irish American in origin.

https://imageresize.org/api/v1/images/4dc9da3d-8bad-4de0-9928-1bccb5ca6e6d?contentDispositionFilename=952CDB2F-EEFA-4C8A-B358-5C07443A89FC

[ovidiu]

I thought this was outdated? If true, where did this one person supposedly live? Was it Northern Europe or the Eurasian steppe?

[Larali]

Old news. I think the story was that this person originated from Eurasia?

[Leto]

This is interesting and Punjabis share a common ancestor with these people where the gene originated in Ukraine. Plus, a good example is Nikki Haley’s daughter who has pure blue eyes who’s both parents carried the gene even though one is Punjabi Indian and the other is Irish American in origin.

Rena Haley can pass as white, her brother is more swarthy and South Asian. I can hardly call her 'mixed-race' because she obviously look monoracial. I guess Nikki Haley is a Punjabi Jatt.
http://static-26.sinclairstoryline.com/resources/media/28f0a8b6-21fb-4f35-8e47-4153ced41d6b-large16x9_nikkiandrena.jpg?1519677900696
https://heavyeditorial.files.wordpress.com/2016/02/12534181_544464765701229_353433103_n.jpg?quality=6 5&strip=all&strip=all

[Petalpusher]

https://heavyeditorial.files.wordpress.com/2016/02/12534181_544464765701229_353433103_n.jpg?quality=6 5&strip=all&strip=all

Ironically, im sure it's because of the bad picture, it's the father who look the least caucasian here, like a quadroon.

Bad photo or black Irish ;)

[Leto]

Ironically, im sure it's because of the bad picture, it's the father who look the least caucasian here, like a quadroon.

Bad photo or black Irish ;)
Well, he does have broad features but I think he is (almost) entirely European
http://dailyentertainmentnews.com/wpgo/wp-content/uploads/2016/06/nikki-haley-michael-haley-5.jpg

[Winningdude]

Really?
http://blog.africageographic.com/safari-blog/files/2012/05/Vanessa-Bristow-1.jpg


That picture creeps me out.

[Starseed88]

Rena Haley can pass as white, her brother is more swarthy and South Asian. I can hardly call her 'mixed-race' because she obviously look monoracial. I guess Nikki Haley is a Punjabi Jatt.
http://static-26.sinclairstoryline.com/resources/media/28f0a8b6-21fb-4f35-8e47-4153ced41d6b-large16x9_nikkiandrena.jpg?1519677900696
https://heavyeditorial.files.wordpress.com/2016/02/12534181_544464765701229_353433103_n.jpg?quality=6 5&strip=all&strip=all

Hi Leto,

I agree and I’m sure she would be considered atypical and Nikki Haley one of the most powerful woman in the world is from my caste and it’s interesting she carries the blue eye gene considering she’s fully Indian.

https://imageresize.org/api/v1/images/4dc9da3d-8bad-4de0-9928-1bccb5ca6e6d?contentDispositionFilename=952CDB2F-EEFA-4C8A-B358-5C07443A89FC

[Leto]

Rena Haley is whiter than Mortimer, I think. Northern Indian and Anglo-Celtic vs. Serbian and Balkan Gypsy. Although I don't know if her father has any colonial non-caucasoid admixture (Amerindian or African).

Evelyn Sharma is half Punjabi Sikh, half German. Very beautiful, looks Aryan i.e. noble
https://photos.filmibeat.com/ph-big/2016/04/evelyn-sharma-photoshoot-for-wedding-vows-magazine-april-2016_146053553400.jpg
More here (https://www.google.com/search?q=evelyn+sharma&newwindow=1&source=lnms&tbm=isch&sa=X&ved=0ahUKEwia3-q-lPfaAhXpIJoKHRUKDUQQ_AUICigB&biw=1024&bih=675#imgrc=_)

Funny thing is that she would be considered 'mixed-race' or 'bi-racial' in North America, although she doesn't look so.

[Fuglo]

Not only blue eyed but also ppl with blue eyed siblings