Neandertal origin of MC1R haplotypes related to skin color

Angela

Elite member
Messages
21,823
Reaction score
12,327
Points
113
Ethnic group
Italian
Dienekes points us to a new study about the impact of a MCIR haplotype introgression from Neanderthals that is associated with red hair and pale skin.
http://dienekes.blogspot.com/2014/06/neandertal-origin-of-mc1r-haplotypes.html

Strangely, the introgression in Europeans is low (about 5%), and is much higher in East Asians(30%), and very high in the Taiwanese (60-70%) who don't have many red-heads, so far as I know. That does correlate, however, with the fact that other studies have shown higher levels of Neanderthal introgression in east Asia versus Europe.

From the distribution, it is higher at the margins...Ireland to Micronesia.

Perhaps it is expressed in anatomically modern humans as red hair/pale skin only in the presence of other alleles? As the scientists keep telling us, pigmentation traits are polygenic.

It is also being discussed at 23andme: https://www.23andme.com/you/community/thread/30510/

GG here, no risk alleles, and yet I've been hospitalized for sun burns on more than one occasion, so go figure. Maybe I can stop worrying about melanoma?
 
Finally a proof that fair skin and red hair came from Neanderthals. It has been known for years that some Neanderthals had red hair. I have been saying for years that Europeans got the red hair mutations from them, but many people liked to dismiss my claim based on the fact that the few European Neanderthal genomes tested to date did not share the same MC1R mutations as modern Europeans. I had actually theorised that red hair originated with Central Asian Neanderthals and that the mutations were spread by Y-haplogroup R1a and especially R1b during the Indo-European migrations.
 
This is not one of the common variant found in west Europeans, but the kind found in South/East Asians. People who have tested with 23andME can look this one up - rs2228479, aka Val92Met . Anyone who is curious on exploring further should Google SNP + MC1R, you will hit the SNPedia page with good information. I think the jury is still out on this one, at least concerning NW Europeans.
 
Finally a proof that fair skin and red hair came from Neanderthals. It has been known for years that some Neanderthals had red hair. I have been saying for years that Europeans got the red hair mutations from them, but many people liked to dismiss my claim based on the fact that the few European Neanderthal genomes tested to date did not share the same MC1R mutations as modern Europeans. I had actually theorised that red hair originated with Central Asian Neanderthals and that the mutations were spread by Y-haplogroup R1a and especially R1b during the Indo-European migrations.

So Neanderthals had red hair versions of SNPs which have been shown in modern people to determine if someone has red hair or not? That is very hard to believe. Red hair is not exclusively European but it does seem to be exclusively west Eurasian. The R1a and R1b, ANE, Indo European, etc. theory is not constant with nearly 1% red hair in Sardinia(around the same rate as in parts of R1a Z282 dominated east Europe), and the existence of red hair in west Asia. From what I have read most experts believe there was probably one time period of Eurasian human-Neanderthal admixture and it was around when the ancestor's of Eurasians first became a separate group, and so if red hair is from Neanderthals why is it non-existent in east Asians and south Asians. I guess it is still possible Neanderthals are the source but I really doubt it.
 
I am AG for the rs2228479 SNP, makes sense because I have a pretty homogenous british background. I find it interesting that the MC1R mutation is also found in Native Americans (Cheyenne) in such high frequencies, this would imply that the neaderthal mixing occured with Y DNA Haplogroup K, that would explain the mutation in asian(O), Western Europe(R1b), Russian(N), and Native American(Q) populations.
 
This is not one of the common variant found in west Europeans, but the kind found in South/East Asians. People who have tested with 23andME can look this one up - rs2228479, aka Val92Met . Anyone who is curious on exploring further should Google SNP + MC1R, you will hit the SNPedia page with good information. I think the jury is still out on this one, at least concerning NW Europeans.
Can it be that in some Europeans Neanderthal allele mutated farther in rs2228479?

In map B, the hotspots of introgressive MC1R in Russia and GB/Ireland correlate nicely with red hair from Maciamo's map.

mc1r.jpg


red_hair_map_europe.jpg
 
Can it be that in some Europeans Neanderthal allele mutated farther in rs2228479?

In map B, the hotspots of introgressive MC1R in Russia and GB/Ireland correlate nicely with red hair from Maciamo's map.

rs2228479 = A derived and G ancestral
It depends how many copies of A / just one, none or maybe two [homozygous A derived];
The ancient corpses Stuttgart/Motola12/Loschbour were all still G ancestral [Hirisplex] not sure what their Neanderthal mix was;
 
Can it be that in some Europeans Neanderthal allele mutated farther in rs2228479?

In map B, the hotspots of introgressive MC1R in Russia and GB/Ireland correlate nicely with red hair from Maciamo's map.

Not sure, but for some reason the most common variation in European populations is rs1805009 and not tested on the v2 or v3 23andMe chips. rs1805008 has been linked heavily in Irish populations but probably in western Europe in general. The one in the study is actually quite rare in Europe, but as we've seen from at least one commenter, does pop up. I don't believe they are linked or else I would expect to seem them pop up together and rs2228479 be far more frequent in Europe.
 
rs2228479 derived A copies are by far the most common in Europe from all the MC1R SNPs; rs1805007 and rs1805008 derived T [homozygous T/T] is a strong associate to red hair in MC1R (not sure the Neanderthal link); Either way i read nowhere in that 'Abstract' neither the word red nor hair; Only photoaging, skin color, Neanderthals and introgression; So obviously rs2228479[Val92Met] is a minor Neanderthal introgression in a fraction of most (almost all) European populations;
http://2.bp.blogspot.com/-a1xz08Y-Sz4/U5g_JNt9dAI/AAAAAAAAJo4/94yx_wKUUhU/s1600/mc1r.jpg
 
This is not one of the common variant found in west Europeans, but the kind found in South/East Asians. People who have tested with 23andME can look this one up - rs2228479, aka Val92Met . Anyone who is curious on exploring further should Google SNP + MC1R, you will hit the SNPedia page with good information. I think the jury is still out on this one, at least concerning NW Europeans.

Rs2228479 is found throughout Eurasia. It has been associated with red beard hair. The red pigmentation is only visible in individuals with fair hair (i.e. those who also carry mutations for blond hair), which explains why red hair is not normally observed in East and South Asians.

Since pure Neanderthals disappeared in Central Asia over 30,000 years ago, this gene would have been picked up by Y-haplogroup NOP, which is also ancestral to haplogroups Q and R. That explains why the gene is so widely distributed today, and why predominantly N1c1 Uralic people like the Udmurts and the Mordvins have high frequencies of red hair.

So far there is no evidence that the Mesolithic or Neolithic Europeans possessed MC1R mutations for red hair. On the other hand it is possible that the original N, O, P, Q and R people who possessed the mutations didn't have red hair, but pitch black hair like modern East and South Asians. It is only when haplogroup R moved into eastern Europe and mixed with blond hair people that the reddish tinge would have become visible in their hybrid descendants.

It's harder to explain why red hair became so much more frequency in R1b than in R1a populations, as if natural selection in cloudy north-west Europe favoured red hair, while it favoured blond hair in sunnier but colder north-east Europe.
 
So Neanderthals had red hair versions of SNPs which have been shown in modern people to determine if someone has red hair or not? That is very hard to believe. Red hair is not exclusively European but it does seem to be exclusively west Eurasian. The R1a and R1b, ANE, Indo European, etc. theory is not constant with nearly 1% red hair in Sardinia(around the same rate as in parts of R1a Z282 dominated east Europe), and the existence of red hair in west Asia. From what I have read most experts believe there was probably one time period of Eurasian human-Neanderthal admixture and it was around when the ancestor's of Eurasians first became a separate group, and so if red hair is from Neanderthals why is it non-existent in east Asians and south Asians. I guess it is still possible Neanderthals are the source but I really doubt it.

outside the debate about genes causing it, I speak here of the phenotype: very often I reed overevaluated %s for red hairs (even high reddish ones included)
Sardigna was considered 0,5% red, like Armenia, a bit more than other southern régions 0,3%: the morst of Iberia, the southern Italy, The most of Greece, Turkey and some Balkans-Dinaric régions...
the Slavic régions where R1a dominates vary: more than 1,0% (to 1,4%?) less than 1,0% in Ukraina and Russia: but the diverse females "co-opted" on the way can explain too the phénotypes based on autosomals - but I believed that about 7 mutations at leat could cause more or less red hairs
 
So basically MC1R is the catalyst for red hair/pale skin but it is only expressed in the presence of some other pigmentation SNP. Now we have an explanation for the red hair of the Tarim Mummy.

The rate of MC1R frequency in a population probably gives us a good example of how much that particular population interbred with other groups. Taiwanese Aboriginals are probably the most similar to Y DNA NOP (as Maciamo prefers this instead of K :D), which makes sense because their geographical isolation would cause a more homogenous genetic makeup.

So it seems R1a migrated to eastern Europe a very long time ago and almost completely lost most of its original genetic makeup while R1b remained a homogenous group and migrated to Europe much later, which makes sense and is pretty much what we know already.

It seems that the other SNP may have been picked up by R1b (and some N) before it migrated to Europe otherwise we wouldn't see that Russian hotspot of red hair with the huge gap between it and Europe, either that or it was an eastern migration of the other SNP from Europe to a mesolthic continuity spot of R1b. Either seems possible.
 
Rs2228479 is found throughout Eurasia. It has been associated with red beard hair. The red pigmentation is only visible in individuals with fair hair (i.e. those who also carry mutations for blond hair), which explains why red hair is not normally observed in East and South Asians.

Since pure Neanderthals disappeared in Central Asia over 30,000 years ago, this gene would have been picked up by Y-haplogroup NOP, which is also ancestral to haplogroups Q and R. That explains why the gene is so widely distributed today, and why predominantly N1c1 Uralic people like the Udmurts and the Mordvins have high frequencies of red hair.

So far there is no evidence that the Mesolithic or Neolithic Europeans possessed MC1R mutations for red hair. On the other hand it is possible that the original N, O, P, Q and R people who possessed the mutations didn't have red hair, but pitch black hair like modern East and South Asians. It is only when haplogroup R moved into eastern Europe and mixed with blond hair people that the reddish tinge would have become visible in their hybrid descendants.

It's harder to explain why red hair became so much more frequency in R1b than in R1a populations, as if natural selection in cloudy north-west Europe favoured red hair, while it favoured blond hair in sunnier but colder north-east Europe.

Loschbour and Stuttgart had derived rs1110400(in MCR1 gene) C/C which is nearly non existent in modern people.
 
Loschbour and Stuttgart had derived rs1110400(in MCR1 gene) C/C which is nearly non existent in modern people.

In reality both Stuttgart and Loschbour are homozygous ancestral T/T
[Lazaridis et al p.47 Apr.2014 / p.37 Dec.2013];
 
So basically MC1R is the catalyst for red hair/pale skin but it is only expressed in the presence of some other pigmentation SNP. Now we have an explanation for the red hair of the Tarim Mummy.

The rate of MC1R frequency in a population probably gives us a good example of how much that particular population interbred with other groups. Taiwanese Aboriginals are probably the most similar to Y DNA NOP (as Maciamo prefers this instead of K :D), which makes sense because their geographical isolation would cause a more homogenous genetic makeup.

So it seems R1a migrated to eastern Europe a very long time ago and almost completely lost most of its original genetic makeup while R1b remained a homogenous group and migrated to Europe much later, which makes sense and is pretty much what we know already.

It seems that the other SNP may have been picked up by R1b (and some N) before it migrated to Europe otherwise we wouldn't see that Russian hotspot of red hair with the huge gap between it and Europe, either that or it was an eastern migration of the other SNP from Europe to a mesolthic continuity spot of R1b. Either seems possible.

To further extrapolate on this last post a bit, lets find the Neaderthal mtDNA.

We know that MC1R is found at high frequencies in Taiwanese Aborigines and the Cheyene. So we can take this to imply that they remained relatively homogenous since paleolithic times. So what mtDNA do we find in Taiwanese Aboriginies and Native Americans?

http://dienekes.blogspot.ca/2005/07/archaic-mtdna-in-taiwan-and-polynesian.html

"We assessed mtDNA variation in 640 individuals from nine tribes of the central mountain ranges and east coast regions of Taiwan. In contrast to the Han populations, the tribes showed a low frequency of haplogroups D4 and G, and an absence of haplogroups A, C, Z, M9, and M10. Also, more than 85% of the maternal lineages were nested within haplogroups B4, B5a, F1a, F3b, E, and M7."

http://en.wikipedia.org/wiki/Genetic_history_of_indigenous_peoples_of_the_Americas

"All Indigenous Amerindian mtDNA can be traced back to five haplogroups, A, B, C, D and X.[48] More specifically, indigenous Amerindian mtDNA belongs to sub-haplogroups that are unique to the Americas and not found in Asia or Europe: A2, B2, C1, D1, and X2a (with minor groups C4c, D2, D3, and D4h3)."
 
rs2228479 derived A copies are by far the most common in Europe from all the MC1R SNPs; rs1805007 and rs1805008 derived T [homozygous T/T] is a strong associate to red hair in MC1R (not sure the Neanderthal link); Either way i read nowhere in that 'Abstract' neither the word red nor hair; Only photoaging, skin color, Neanderthals and introgression; So obviously rs2228479[Val92Met] is a minor Neanderthal introgression in a fraction of most (almost all) European populations;
http://2.bp.blogspot.com/-a1xz08Y-Sz4/U5g_JNt9dAI/AAAAAAAAJo4/94yx_wKUUhU/s1600/mc1r.jpg

You're right, Nobody 1; the abstract doesn't say anything about red hair. I got that from SNPedia and just made the association. I'm not sure, frankly, if the paper itself proposes that this particular variant is not associated with red hair, as the paper itself is not open access so far as I know.

http://www.snpedia.com/index.php/Rs2228479

I also found this interesting:
[PMID 23744330] [Association study of MC1R gene polymorphisms with freckles in Chinese Han population from Chengdu]

In the hysteria that the topic of ancient pigmentation seems to engender in some people, what is lost sight of is that these expressed traits are polygenic.
 
In reality both Stuttgart and Loschbour are homozygous ancestral T/T
[Lazaridis et al p.47 Apr.2014 / p.37 Dec.2013];

No, they have C/C you should check it again. I was shocked so I checked it multiple times.
 
In the hysteria that the topic of ancient pigmentation seems to engender in some people, what is lost sight of is that these expressed traits are polygenic.

You seemed to be excited about ancient pigmentation to. How is discovering what people 1,000's of years ago looked like in person not interesting? I am tired of you(Angela) assuming everyone who shows any interest in pigmentation is raciest. You're previous angry responses to me questioning the assumed skin color of Mesolithic Europeans and accuracy of skin color predictions revealed your own racism. You're a fool if you believe you're more clean than the people you ridicule.
 
You seemed to be excited about ancient pigmentation to. How is discovering what people 1,000's of years ago looked like in person not interesting? I am tired of you(Angela) assuming everyone who shows any interest in pigmentation is raciest. You're previous angry responses to me questioning the assumed skin color of Mesolithic Europeans and accuracy of skin color predictions revealed your own racism. You're a fool if you believe you're more clean than the people you ridicule.

Okay, we get it - you're the kind of guy who "doesn't like girls". But some of your comments about skin colour seem to me to be ill-informed and driven by a rather peculiar agenda that I haven't quite figured out.
 

This thread has been viewed 20301 times.

Back
Top