Light skin allele of SLC24A5 gene was spread by the Indo-Europeans (R1a + R1b)

[joeyc]

North Europeans have a much higher percentage of 374f light skin allele than South Europeans. They also carry a much higher amount of light skin allele on the OCA2 gene.

Certain alleles on the MC1R gene also play a role in skin fairness. They are especially common among NW Europeans and perhaps Ashkenazi Jews (but I am not sure).

 

[Nobody1]

Hold your horses. Swedish hunter gatherers had some ANE ancestry but vast majority WHG(I use to refer to Mesolithic Europeans) ancestry that's why Laz calls them SHG. I pointed out in my thread that Motala12 and Loschbour probably largely descended from the same central European hunter gatherers. Motala12 got his blue eyes from his WHG ancestry like La Brana-1 and Loschbour did, i bet that's also where he got rs1426654 A/A from.

Thats correct and you can give the precise numbers but i rember if correct that Motola12 was ?19% ANE and remainder WHG? ?; But how could Motola12 have gotten rs1426654 A/A from the WHG if none of the two WHG had it and all are roughly form the same times/era (as is Stuttgart / LBK rs1426654 A/A); So what about those ANE corpses from Afontova Gora/Mal'ta in souzern-Siberia if they are (like they are also rs1426654 A/A but than from way-way before) than that explains Motola12 and the SHG who Lazaridis describes as in 'intermediate' between WHG and ANE; The Skoglund_HG and Skoglund_framer are of a much later date but still show their respective affiliations;

Concerning the mtDNA there is more diversity amongst the farmers: LBK Stuttgart (mtDNA T2) and samples of TRB Gök4 (mtDNA H) and Ste7 (mtDNA T2) and Alps Ötzi (mtDNA K1) et. al;

 

[Nobody1]

If rs1426654 A/A is just as popular in west asians as in Europeans, why do people assume it significantly lightens skin? There are no answers in DNA(that i have read of) that can explain lighter skin in northern Europe than in southern Europe, and lighter skin in Europe than in west asia. No one at this forum is considering that there are unknown variations in DNA that effect skin color.

Because its not just rs1426654 A/A other genotypes are factors as well most notably also rs16891982 G/G or the rs1129038 A/A and rs1291382 G/G which are factors for the eye but also skin as also the TYR rs1042602 A/A;

PS: when did you move to Texas? werent you from California a just few months ago?

 

[Fire Haired14]

Because its not just rs1426654 A/A other genotypes are factors as well most notably also rs16891982 G/G or the rs1129038 A/A and rs12913832 G/G which are factors for the eye but also skin as also the TYR rs1042602 A/A;PS: when did you move to Texas? werent you from California a just few months ago?

Good memory, actually I am from neither.

 

[Angela]

I believe the remains analyzed by Lazardis et al from Motala, Sweden are part of the set discussed in prior archaeological papers such as the one to which I allude further on in this post. (If that isn't the case, then the following comments would not be apropos.)

This group of remains dates to 6.000 B.C. which is very "recent" as far as human history in Europe is concerned, and while it tested positive for SLC24A5, which has reached virtual fixation in Europe with a few minor exceptions (unlike Loschbour and La Brana, which Nobody 1 pointed out) it did not test positive for SLC45A2, which has a north/south cline in Europe, and which in some areas only reaches around 80% levels. The effect of SLC45A2 in explaining differences in pigmentation between African Americans and European Americans has been shown in numerous studies. In Europe, the presence of one ancestral allele on this snp has been tied to the "olive toned" skin phenotype.

Specifically with regard to the Motala samples, I'm not sure that the scientists are sure if the remains are those of people native to that specific area.

See the following media report on one of the latest papers on the remains, http://www.history.com/news/human-skulls-mounted-on-stakes-found-at-stone-age-burial-site:

"The stakes could have been used for secondary burial rites, in which individuals’ bones were removed from their graves and reinterred after their bodies decomposed, Hallgren said. At least one other Mesolithic site in Sweden bears traces of this tradition."

"Another hypothesis about this macabre practice holds that the skulls belonged to enemies killed in combat, not departed loved ones whose mourners gave them two funerals. Perhaps, Hallgren said, victorious Stone Age warriors mounted the heads of their foes on stakes and carried them home from battle as war trophies. The researchers believe laboratory analysis of the remains might support or rule out this scenario. “Sulphur and strontium isotopes in the bones will give information on whether the skulls represent locals or come from a distant place, and DNA analysis will hopefully elucidate if the interred individuals are related or unrelated strangers,” said Hallgren. “These data will give clues to if the depositions represent secondary burial rituals or trophies of defeated enemies.”

This is the actual academic study. The authors mention that further analysis would be done to see if the samples belonged to people raised in the area, but I haven't been able to find any subsequent studies by the authors. Perhaps if someone has access to Swedish Archaeology Journals they might be able to find something.
http://www.academia.edu/3122672/Mesolithic_skull_depositions_at_Kanaljorden_Motala_Sweden

Personally, it has always seemed to me that mtDNA U2e, for example, was perhaps a more recent addition to the genetic landscape in northeastern Europe and northern Eurasia in general that might have come by way of the Caucasus in the very late Mesolithic. If these people in Motala, for example, originally came from a tribe that traded with groups in the Caucasus, the light skin allele might have entered the areas north of the Caucasus through intermarriage or the taking of captives etc. by tribes that had such contact with the greater Caucasus area. This is pure speculation, of course.

Just as a reminder, numerous studies of pigmentation genes done by looking at the actual runs of alleles finds that SLC24A5 at any rate is relatively recent (from 9-12,000 years ago to 25,000 years ago depending on the mutation rate used) and can be traced to an area somewhere between the Middle East and India.

See Canfield et al...http://www.g3journal.org/content/3/11/2059.full
The distributions of C11 and its parental haplotypes make it most likely that these two last steps [leading to SLC24A5] occurred between the Middle East and the Indian subcontinent, with the A111T mutation occurring after the split between the ancestors of Europeans and East Asians.

Of course, the factors affecting the much more recent selective sweep in Europe are an entirely separate issue. I haven't yet seen anything better in terms of a hypothesis than the one which posits a correlation between the new Neolithic diet and levels of UV radiation, but time will tell.

For those who are fascinated by this topic, I think any more clarity is going to depend on getting more ancient DNA samples.

What I find fascinating is the continued resistance to the idea that ancient Europeans, specifically ancient western Europeans, a la Loschbour and La Brana, might not have had fair skin. All I can tell you, with absolute 100% certainty, is that if a sample was analyzed by the NYPD or the FBI and produced pigmentation alleles like those of Loschbour and La Brana, the authorities would be looking for an African American with blue eyes.

 

[Fire Haired14]

I don't have editing tools, so i will post my links in mu next post.Modern Sardinians are likely pigmented the same way as early Neolithic Europeans farmers were. Their skin seems to be as light as other south Europeans(i.e. Basque), kind of olive and much lighter than west asians. Sardinians are the darkest haired(98.1%) and darkest eyed(86.9%) people in Europe. They are even darker haired and eyed than south Italians and Sicilians who have more overall near eastern ancestry and a big chunk of it comes from modern-like south west asians. This may be because light hair and eyes became more popular in north European's ancestors(Sicilians have modern north-euro ancestry via proto-Italic speakers, and various Germanic people).

 

[Fire Haired14]

Many images of Sardinian people. Notice the correlation between light hair, eyes, and skin. Why is it also true for Sardinians?http://photo.net/photodb/photo?photo_id=3976600

 

[Nobody1]

I don't have editing tools, so i will post my links in mu next post.Modern Sardinians are likely pigmented the same way as early Neolithic Europeans farmers were. Their skin seems to be as light as other south Europeans(i.e. Basque), kind of olive and much lighter than west asians. Sardinians are the darkest haired(98.1%) and darkest eyed(86.9%) people in Europe. They are even darker haired and eyed than south Italians and Sicilians who have more overall near eastern ancestry and a big chunk of it comes from modern-like south west asians. This may be because light hair and eyes became more popular in north European's ancestors(Sicilians have modern north-euro ancestry via proto-Italic speakers, and various Germanic people).

Both Ötzi and Stuttgart had dark-hair and dark-eyes and both along with (Gök4) cluster closest to modern-day Sardinians and in terms of light-skin Stuttgart was rs1426654 A/A [light-skin] but lacked the rs16891982 G/G mutation and was C/C (like Loschbour and LaBrana who however lacked both major light-skin alleles);

These (Lucotte et al 2011) are results for SLC45A2/rs16891982 G/G (light-skin) in modern day European populations: http://www.academicjournals.org/article/article1379514057_Lucotte and Yuasa pdf.pdf

Ötzi is so far the only ancient corpse that had also the rs16891982 G/G (light-skin) mutation; Sardinians frequency (of having rs16891982 G/G) ranges from 68%-80% i.e. a good part being like Stuttgart; SLC24A5/rs1426654 A/A is a/the standard in west Eurasia, Near east and Indo-Asia where as rs16891982 G/G has a clear cline in Europe and Global; Norton et al 2006 - http://mbe.oxfordjournals.org/content/24/3/710.long

The Sardinians with light eyes and lighter hair are of course not been there since the Neolithic but most prob. came over from Italy especially Tuscany and Lombardy during the middle-ages; The interior (settlements) remained archaic/isolated and most I2-M26 presence;

 

[Angela]

Both Ötzi and Stuttgart had dark-hair and dark-eyes and both along with (Gök4) cluster closest to modern-day Sardinians and in terms of light-skin Stuttgart was rs1426654 A/A [light-skin] but lacked the rs16891982 G/G mutation and was C/C (like Loschbour and LaBrana who both lacked both major light-skin alleles);

These (Lucotte et al 2011) are results for SLC45A2/rs16891982 G/G (light-skin) in modern day European populations: http://www.academicjournals.org/article/article1379514057_Lucotte and Yuasa pdf.pdf

Ötzi is so far the only ancient corpse that had the rs16891982 G/G (light-skin) mutation; Sardinians frequency (of having rs16891982 G/G) ranges from 68%-80% i.e. a good part being like Stuttgart; SLC24A5/rs1426654 A/A is a/the standard in west Eurasia, Near east and Indo-Asia where as rs16891982 G/G has a clear cline in Europe and Global; Norton et al 2006 - http://mbe.oxfordjournals.org/content/24/3/710.long

The Sardinians with light eyes and lighter hair are of course not been there since the Neolithic but most prob. came over from Italy especially Tuscany and Lombardy during the middle-ages; The interior (settlements) remained archaic/isolated and most I2-M26 presence;

Excellent. I agree with absolutely everything you said except for part of the last paragraph. Don't Sardinians have some WHG ancestry? I'm not as convinced as Jean Manco is that the mesolithic archaeological traces on Sardinia are only from hunting parties and that no Mesolithic inhabitants stayed around long enough to feed the local genetic pool. So, some of the lighter eyes might stem from that, or from later Bronze Age movements, although most of them were probably indeed imported by way of Tuscans emigrating to the island.

As for blonde hair, it seems to be more recent.

 

[Wilhelm]

The Sardinians with light eyes and lighter hair are of course not been there since the Neolithic but most prob. came over from Italy especially Tuscany and Lombardy during the middle-ages; The interior (settlements) remained archaic/isolated and most I2-M26 presence;

Sardinia have decent amount of northern-like ancestry, for example on Eurogenes K13 they're 22% North-Atlantic, on Dodecad globe13 they are 16% northern-euro, and on the study of Lazaridis they have some amount of the blue(northern) component , so don't believe this people who say Sardinians = pure neolithics, because they do also have Mesolithic ancestry.

 

[Fire Haired14]

Sardinian people are dominated by rs1426654 A/A(98%) like Europeans and near easterns. Sardinians have the same amount of TYR A192C as Europeans and near easterns. Sardinians though have a much lower amount of MATP C374G(~60-80%) than most Europeans(close to 100%), and more than near easterns who have around 50%. This could be why they have a much higher percentage of black hair than Italians, since C/C alleles in Europeans is supposed to mean that individual is 7x more likely to have black hair.Early Neolithic European farmers were probably white-olive skinned, over 85% dark eyed and over 90% dark haired. I am confused though about the pigmentation of Mesolithic European hunter gatherers. There is no doubt that Loschbour, Motala12, and La Brana-1 had blue eyes and dark hair(no mutations associated with red or blonde hair). 1/3 have rs1426654 A/A, 0/2 have MATP C374G, and 0/3 have TYR A192C. When ever i find a new mutation that is dominate in Europeans and suppose to cause light skin, none of the hunter gatherers(that were tested) have it, that can't just be random. I don't know if they are exclusive to Europe though, which is important. I think the hunter gatherers probably had dark skin, but who knows.

 

[Fire Haired14]

rs1426654 A/A, rs16891982 G/G, and rs1042602 A/A can not explain skin color variation in west Eurasians. There are probably many mutations that can explain the lighter skin in early European farmers than in and modern near easterns, and many other mutations that can explain slightly lighter skin in northern Europeans than in southern Europeans. Why are light hair-eyes-skin-Mesolithic European ancestry connected and why do light haired people have a higher percentage of light eyes(everywhere in west Eurasia)? I can't find an explanation and it's driving me crazy!!!! Possibly light hair helps make north European skin lighter(but most have mainly dark hair), but how did it become so attached to light eyes and why does it exist outside of Europe(even in populations who have little to no European ancestry)? Maybe there are two types of light pigmentation in Europe: 1.Neolithic/south European: Descended of early European farmers from the Levant: White-olive skinned, very small amount of non dark hair and eyes. 2.North European/Metal age: White skin(mixture of EEF, and later mutations in WHG/ANE/EEF descendants), high amounts of light hair and eyes(WHG, and was selected to become popular again in WHG/ANE/EEF descendants), and light hair-eyes-skin are connected.

 

[Fire Haired14]

More on my idea of two types of European light pigmentation. In my opinion after the Neolithic there was a migration of north European-like pigmented people into western Europe from the east(in Europe though) who were closely related to Bronze and Iron age Indo Europeans from south Siberia and western China who had light skin, and primarily light hair(some red) and eyes. The eastern immigrants had very high amounts of WHG and ANE, spread Y DNA R1b L11, and probably spoke the ancestral version of Germanic, Celtic, and Italic languages. I know i have said that before in this forum but it still makes alot of sense. Nothing else can explain how widespread north European-like pigmentation is despite it's young age and why western Europeans seem to be an admixture between a Sardinian/Otzi like population and a population with much higher amounts of WHG and ANE.

 

[Fire Haired14]

Sardinia have decent amount of northern-like ancestry, for example on Eurogenes K13 they're 22% North-Atlantic, on Dodecad globe13 they are 16% northern-euro, and on the study of Lazaridis they have some amount of the blue(northern) component , so don't believe this people who say Sardinians = pure neolithics, because they do also have Mesolithic ancestry.

Eurogenes K13's component North Atlantic is a mixture of Mesolithic central-west European(that's why it's most popular in western Europe) and Neolithic farmer alleles. La brana-1 scored 37% North Atlantic, and Estonians scored 30% even though they have much more near eastern and much less Mesolithic European ancestry than La Brana-1 did. Sardinians probably score 22% North Atlantic because most of their Mesolithic ancestry is from central-west Europe(Loschbour and La Brana-1 like). I do agree though that Sardinians have some Italian(possibly others i don't know) ancestry. It might be able to explain why 1.7% have blonde hair.

 

[Fire Haired14]

Both Ötzi and Stuttgart had dark-hair and dark-eyes and both along with (Gök4) cluster closest to modern-day Sardinians and in terms of light-skin Stuttgart was rs1426654 A/A [light-skin] but lacked the rs16891982 G/G mutation and was C/C (like Loschbour and LaBrana who however lacked both major light-skin alleles); These (Lucotte et al 2011) are results for SLC45A2/rs16891982 G/G (light-skin) in modern day European populations: http://www.academicjournals.org/article/article1379514057_Lucotte and Yuasa pdf.pdfÖtzi is so far the only ancient corpse that had also the rs16891982 G/G (light-skin) mutation; Sardinians frequency (of having rs16891982 G/G) ranges from 68%-80% i.e. a good part being like Stuttgart; SLC24A5/rs1426654 A/A is a/the standard in west Eurasia, Near east and Indo-Asia where as rs16891982 G/G has a clear cline in Europe and Global; Norton et al 2006 - http://mbe.oxfordjournals.org/content/24/3/710.long

http://mbe.oxfordjournals.org/content/24/3/710.longActually Keyser 2009 found plenty of Bronze and Iron age Indo Iranians with that combo.

The Sardinians with light eyes and lighter hair are of course not been there since the Neolithic but most prob. came over from Italy especially Tuscany and Lombardy during the middle-ages; The interior (settlements) remained archaic/isolated and most I2-M26 presence;

Have you forgotten 3/3 Mesolithic Europeans tested for SNPs associated with pigmentation have light eyes? Light hair is not exclusive to Europeans, it has a weak presence in west Asia, north Africa, and central asia. It is not all from European admixture. Sardinians are evidence that Mesolithic central-west Europeans were very dark haired(but not dark eyed, doesn't make sense) and that post neolithic immigrants from east Europe are the main source of light hair in western Europe.

 

[Fire Haired14]

Excellent. I agree with absolutely everything you said except for part of the last paragraph. Don't Sardinians have some WHG ancestry? I'm not as convinced as Jean Manco is that the mesolithic archaeological traces on Sardinia are only from hunting parties and that no Mesolithic inhabitants stayed around long enough to feed the local genetic pool. So, some of the lighter eyes might stem from that, or from later Bronze Age movements, although most of them were probably indeed imported by way of Tuscans emigrating to the island.As for blonde hair, it seems to be more recent.

Of course Sardinians have some WHG. Overall they probably have around 33%.https://www.google.com/url?sa=t&rct...=gt6vzqkyumt9c4KSTLtekA&bvm=bv.65058239,d.aWc

 

[Nobody1]

Actually Keyser 2009 found plenty of Bronze and Iron age Indo Iranians with that combo

That goes without saying;
I was referring to the corpses so-far tested and found in/from Europe (pre-Indo-European - Mesolithic/Neolithic); Keyser tested Indo-European corpses from the Bronze-age/Iron-age of the eastern steppes (~1800BC onwards); In that respect i would like to see those results of the Corded-ware corpses from Eulau or the Bell-beaker corpses from Kromsdorf or the Urnfield Lichtenstien corpses and the other Chalcolithic/Bronze-age corpses of Europe sites;

Also Wilde et al 2014 had corpses from Yamna/Catacomb but did not test (or not showing the results) of rs1426654 just rs16891982 (i think all are combos);

Sardinians are closer to the Neolithic farmers EEF [Stuttgart/Gök4/Ötzi] than to the WHG [Loschbour/LaBrana] but all of them had dark-hair tested;

Good memory, actually I am from neither

 

[Nobody1]

Sardinia have decent amount of northern-like ancestry, for example on Eurogenes K13 they're 22% North-Atlantic, on Dodecad globe13 they are 16% northern-euro, and on the study of Lazaridis they have some amount of the blue(northern) component , so don't believe this people who say Sardinians = pure neolithics, because they do also have Mesolithic ancestry.

Yes that is true;
The Sardinians had an amount of the 'northern comp.' in Lazaridis K=20 however also Stuttgart [EEF] had an amount of this comp. that was exclusive (Lazaridis K=20) to SHG and WHG; So also the EEF themselves already had such an admix; I am not sure what happened on that island but it seems completely isolated/archaic especially in comparison to close neighbour Corsica;

 

[Fire Haired14]

You guys are confusing modern north European and Mesolithic European. North European specific components have mainly Mesolithic European alleles, so just because south Europeans score in them does not mean they have modern north European-like ancestry. Higher amounts of Mesolithic ancestry is what differentiates north Europeans and south Europeans.

 

[Fire Haired14]

I think this study is suggesting that rs1426654, rs10831496, rs4424881, and rs35395 can't be the only explanation of skin color difference between African and Europeans. BTW, La Brana-1 had ancestral alleles for all of them, except he had rs4424881 T/C.

Quantitative assessment of the skin color loci can be considered from two perspectives: effect size in an individual, and contribution to total phenotypic variance in a population. The former depends only on genotype, and measures the strength of allelic substitution, whereas the latter is influenced by the distributions and potential correlations of allele frequencies in the specific population being studied. From the first perspective, alleles of the four major loci shift the MM index 0.16–0.33 units (in Cape Verde, skin color ranges from ~5.5–10.5 units), and the sum of effect sizes for homozygous substitution at all four loci would shift, in an individual, an amount about the same as ~1/3 of the total range of skin color we observed (Figure 6a).From the second perspective, the proportions of phenotypic variance attributed solely to genotype at each of the four major skin color loci are quite small, about 2% each for GRM5-TYR, APBA2 (OCA2), and SLC45A2, and about 7% for SLC24A5. However, these estimates, based on conventional regression analyses in which individual genomic ancestry is considered as a covariate, fail to consider admixture stratification, wherein admixture proportions vary widely due to recent admixing, and genotypes at unlinked loci remain correlated. For example, even though SLC24A5 and SLC45A2 lie on different chromosomes, their genotypes in the Cape Verde population are correlated with genomic ancestry and, therefore, with each other. Thus, in any particular individual, genomic ancestry has predictive value for genotype at each of the four major skin color loci, and vice versa.To capture this predictive value, we applied the epidemiological concept of population-attributable risk—the extent that an environmental risk factor contributes to phenotypic variance in a population—to determine the quantitative impact of allelic substitution at each of the four major loci. This quantity, to which we refer as “population-attributable variance”, is calculated by determining the fractional reduction in phenotypic variance that would occur if genotypes at a locus of interest were set to a common baseline in all individuals. For skin color, population-attributable variances of SLC24A5, GRM5-TYR, APBA2 (OCA2), and SLC45A2 are 18%, 7%, 9% and 7%, respectively, considerably less than the proportion of variance attributed to individual genomic ancestry, 44% (Figure 7b, also Figure 1c).

These quantitative genetic relationships and their contributions to skin color variation in Cape Verde are depicted in Figure 6 as overlapping regions; the four major loci contribute a total of 35% to skin color variation, but only 13% above that which could also be accounted for by individual ancestry. Conversely, even though individual ancestry contributes 44% to skin color variation, about half of that contribution (22% of the total) could also be accounted for by genotype at the four major loci.The aforementioned discussion considers the different components as a proportion of total variation, not all of which is heritable. Previous studies of skin color estimate narrow sense heritability at 70%–90% of total variation [40], and genotype of the four major loci together with individual ancestry accounts for 57% of total variation. If skin color in Cape Verde is 80% heritable, the four major loci and individual ancestry explain most of that variation, with only a small amount of “missing heritability” (the hashed portion of Figure 7b).[/QUOTE]La Brana-1 did not have many mutations associated with European light skin, but most are not well known and i don't know how popular they are outside of Europe and within Europe. The best guess is that La Brana-1, Loschbour, and Motala12(probably) had dark skin, but it is still possible they were light skinned.Quote from Olalde, 2014.

The combination of seven SNPs has also been shown to be useful in the prediction of “not-dark” and “not white” skin color in a global human sample70 . However, some of these SNPs are not variable between Asians and Europeans and thus, its usefulness for skin color prediction in an ancient, European-specific genetic background is debatable

Nobody1

North Europeans have a much higher percentage of 374f light skin allele than South Europeans. They also carry a much higher amount of light skin allele on the OCA2 gene. Certain alleles on the MC1R gene also play a role in skin fairness. They are especially common among NW Europeans and perhaps Ashkenazi Jews (but I am not sure).

North Europeans probably have a higher percentage of 374f because they have lighter hair. According to a study SNPedia references if a European individual does not have 374f they are 7x more likely to have black hair. Loschbour, Motala12, and La Brana-1 did not have it which suggests Mesolithic Europeans were very dark haired.