New tests on two ancient teeth found in a cave in Indonesia more than 120 years ago have established that early modern humans arrived in Southeast Asia at least 20,000 years earlier than scientists previously thought, according to a new study. …
The findings push back the date of the earliest known modern human presence in tropical Southeast Asia to between 63,000 and 73,000 years ago. The new study also suggests that early modern humans could have made the crossing to Australia much earlier than the commonly accepted time frame of 60,000 to 65,000 years ago.
I would like to emphasize that nothing based on a couple of teeth is conclusive, “settled,” or “proven” science. Samples can get contaminated, machines make errors, people play tricks–in the end, we’re looking for the weight of the evidence.
I am personally of the opinion that there were (at least) two ancient human migrations into south east Asia, but only time will tell if I am correct.
We investigated the genetic architecture of family relationship satisfaction and friendship satisfaction in the UK Biobank. …
In the DSM-55, difficulties in social functioning is one of the criteria for diagnosing conditions such as autism, anorexia nervosa, schizophrenia, and bipolar disorder. However, little is known about the genetic architecture of social relationship satisfaction, and if social relationship dissatisfaction genetically contributes to risk for psychiatric conditions. …
We present the results of a large-scale genome-wide association study of social
relationship satisfaction in the UK Biobank measured using family relationship satisfaction and friendship satisfaction. Despite the modest phenotypic correlations, there was a significant and high genetic correlation between the two phenotypes, suggesting a similar genetic architecture between the two phenotypes.
Note: the two “phenotypes” here are “family relationship satisfaction” and “friendship satisfaction.”
We first investigated if the two phenotypes were genetically correlated with
psychiatric conditions. As predicted, most if not all psychiatric conditions had a significant negative correlation for the two phenotypes. … We observed significant negative genetic correlation between the two phenotypes and a large cross-condition psychiatric GWAS38. This underscores the importance of social relationship dissatisfaction in psychiatric conditions. …
In other words, people with mental illnesses generally don’t have a lot of friends nor get along with their families.
One notable exception is the negative genetic correlation between measures of cognition and the two phenotypes. Whilst subjective wellbeing is positively genetically correlated with measures of cognition, we identify a small but statistically significant negative correlation between measures of correlation and the two phenotypes.
Are they saying that smart people have fewer friends? Or that dumber people are happier with their friends and families? I think they are clouding this finding in intentionally obtuse language.
A recent study highlighted that people with very high IQ scores tend to report lower satisfaction with life with more frequent socialization.
Oh, I think I read that one. It’s not the socialization per se that’s the problem, but spending time away from the smart person’s intellectual activities. For example, I enjoy discussing the latest genetics findings with friends, but I don’t enjoy going on family vacations because they are a lot of work that does not involve genetics. (This is actually something my relatives complain about.)
…alleles that increase the risk for schizophrenia are in the same haplotype as
alleles that decrease friendship satisfaction. The functional consequences of this locus must be formally tested. …
Loss of function mutations in these genes lead to severe biochemical consequences, and are implicated in several neuropsychiatric conditions. For
example, de novo loss of function mutations in pLI intolerant genes confers significant risk for autism. Our results suggest that pLI > 0.9 genes contribute to psychiatric risk through both common and rare genetic variation.
In previous posts, we discussed the evolution of Whites and Asians, so today we’re taking a look at people from Sub-Saharan Africa.
Modern humans only left Africa about 100,000 to 70,000 yeas ago, and split into Asians and Caucasians around 40,000 years ago. Their modern appearances came later–white skin, light hair and light eyes, for example, only evolved in the past 20,000 and possibly within the past 10,000 years.
What about the Africans, or specifically, Sub-Saharans? (North Africans, like Tunisians and Moroccans, are in the Caucasian clade.) When did their phenotypes evolve?
The Sahara, an enormous desert about the size of the United States, is one of the world’s biggest, most ancient barriers to human travel. The genetic split between SSAs and non-SSAs, therefore, is one of the oldest and most substantial among human populations. But there are even older splits within Africa–some of the ancestors of today’s Pygmies and Bushmen may have split off from other Africans 200,000-300,000 years ago. We’re not sure, because the study of archaic African DNA is still in its infancy.
The Bushmen present an interesting case, because their skin is quite light (for Africans.) I prefer to call it golden. The nearby Damara of Namibia, by contrast, are one of the world’s darkest peoples. (The peoples of South Sudan, eg Malik Agar, may be darker, though.) The Pygmies are the world’s shortest peoples; the peoples of South Sudan, such as the Dinka and Shiluk, are among the world’s tallest.
Sub-Saharan Africa’s ethnic groups can be grouped, very broadly, into Bushmen, Pygmies, Bantus (aka Niger-Congo), Nilotics, and Afro-Asiatics. Bushmen and Pygmies are extremely small groups, while Bantus dominate the continent–about 85% of Sub Saharan Africans speak a language from the Niger-Congo family. The Afro-Asiatic groups, as their name implies, have had extensive contact with North Africa and the Middle East.
Most of America’s black population hails from West Africa–that is, the primarily Bantu region. The Bantus and similar-looking groups among the Nilotics and Afro-Asiatics (like the Hausa) are, therefore, have both Africa’s most iconic and most common phenotypes.
For the sake of this post, we are not interested in the evolution of traits common to all humans, such as bipedalism. We are only interested in those traits generally shared by most Sub-Saharans and generally not shared by people outside of Africa.
One striking trait is black hair: it is distinctively “curly” or “frizzy.” Chimps and gorrilas do not have curly hair. Neither do whites and Asians. (Whites and Asians, therefore, more closely resemble chimps in this regard.) Only Africans and a smattering of other equatorial peoples like Melanesians have frizzy hair.
Black skin is similarly distinct. Chimps, who live in the shaded forest and have fur, do not have high levels of melanin all over their bodies. While chimps naturally vary in skin tone, an unfortunate, hairless chimp is practically “white.”
Humans therefore probably evolved both black skin and frizzy hair at about the same time–when we came out of the shady forests and began running around on the much sunnier savannahs. Frizzy hair seems well-adapted to cooling–by standing on end, it lets air flow between the follicles–and of course melanin is protective from the sun’s rays. (And apparently, many of the lighter-skinned Bushmen suffer from skin cancer.)
Steatopygia also comes to mind, though I don’t know if anyone has studied its origins.
According to Wikipedia, additional traits common to Sub-Saharan Africans include:
Modern cross-analysis of osteological variables and genome-wide SNPs has identified specific genes, which control this craniofacial development. Of these genes, DCHS2, RUNX2, GLI3, PAX1 and PAX3 were found to determine nasal morphology, whereas EDAR impacts chin protrusion. …
Ashley Montagu lists “neotenous structural traits in which…Negroids [generally] differ from Caucasoids… flattish nose, flat root of the nose, narrower ears, narrower joints, frontal skull eminences, later closure of premaxillarysutures, less hairy, longer eyelashes, [and] cruciform pattern of second and third molars.”
As hominids gradually lost their fur (between 4.5 and 2 million years ago) to allow for better cooling through sweating, their naked and lightly pigmented skin was exposed to sunlight. In the tropics, natural selection favoured dark-skinned human populations as high levels of skin pigmentation protected against the harmful effects of sunlight. Indigenous populations’ skin reflectance (the amount of sunlight the skin reflects) and the actual UV radiation in a particular geographic area is highly correlated, which supports this idea. Genetic evidence also supports this notion, demonstrating that around 1.2 million years ago there was a strong evolutionary pressure which acted on the development of dark skin pigmentation in early members of the genus Homo.…
About 7 million years ago human and chimpanzee lineages diverged, and between 4.5 and 2 million years ago early humans moved out of rainforests to the savannas of East Africa. They not only had to cope with more intense sunlight but had to develop a better cooling system. …
Skin colour is a polygenic trait, which means that several different genes are involved in determining a specific phenotype. …
Data collected from studies on MC1R gene has shown that there is a lack of diversity in dark-skinned African samples in the allele of the gene compared to non-African populations. This is remarkable given that the number of polymorphisms for almost all genes in the human gene pool is greater in African samples than in any other geographic region. So, while the MC1Rf gene does not significantly contribute to variation in skin colour around the world, the allele found in high levels in African populations probably protects against UV radiation and was probably important in the evolution of dark skin.
Skin colour seems to vary mostly due to variations in a number of genes of large effect as well as several other genes of small effect (TYR, TYRP1, OCA2, SLC45A2, SLC24A5, MC1R, KITLG and SLC24A4). This does not take into account the effects of epistasis, which would probably increase the number of related genes.Variations in the SLC24A5 gene account for 20–25% of the variation between dark and light skinned populations of Africa, and appear to have arisen as recently as within the last 10,000 years. The Ala111Thr or rs1426654 polymorphism in the coding region of the SLC24A5 gene reaches fixation in Europe, and is also common among populations in North Africa, the Horn of Africa, West Asia, Central Asia and South Asia.
That’s rather interesting about MC1R. It could imply that the difference in skin tone between SSAs and non-SSAs is due to active selection in Blacks for dark skin and relaxed selection in non-Blacks, rather than active selection for light skin in non-Blacks.
MC1R is one of the key proteins involved in regulating mammalianskin and hair color. …It works by controlling the type of melanin being produced, and its activation causes the melanocyte to switch from generating the yellow or red phaeomelanin by default to the brown or black eumelanin in replacement. …
This is consistent with active selection being necessary to produce dark skin, and relaxed selection producing lighter tones.
Studies show the MC1R Arg163Gln allele has a high frequency in East Asia and may be part of the evolution of light skin in East Asian populations. No evidence is known for positive selection of MC1R alleles in Europe and there is no evidence of an association between MC1R and the evolution of light skin in European populations. The lightening of skin color in Europeans and East Asians is an example of convergent evolution.
Dark-skinned people living in low sunlight environments have been recorded to be very susceptible to vitamin D deficiency due to reduced vitamin D synthesis. A dark-skinned person requires about six times as much UVB than lightly pigmented persons.
In Reconstructing Prehistoric African Population Structure, Skoglund et al assembled genetic data from 16 prehistoric Africans and compared them to DNA from nearby present-day Africans. They found:
The ancestors of the Bushmen (aka the San/KhoiSan) once occupied a much wider area.
They contributed about 2/3s of the ancestry of ancient Malawi hunter-gatherers (around 8,100-2,500 YA)
Contributed about 1/3 of the ancestry of ancient Tanzanian hunter-gatherers (around 1,400 YA)
Farmers (Bantus) spread from west Africa, completely replacing hunter-gatherers in some areas
Modern Malawians are almost entirely Bantu.
A Tanzanian pastoralist population from 3,100 YA spread out across east Africa and into southern Africa
Bushmen ancestry was not found in modern Hadza, even though they are hunter-gatherers and speak a click language like the Bushmen.
The Hadza more likely derive most of their ancestry from ancient Ethiopians
Modern Bantu-speakers in Kenya derive from a mix between western Africans and Nilotics around 800-400 years ago.
Middle Eastern (Levant) ancestry is found across eastern Africa from an admixture event that occurred around 3,000 YA, or around the same time as the Bronze Age Collapse.
A small amount of Iranian DNA arrived more recently in the Horn of Africa
Ancient Bushmen were more closely related to modern eastern Africans like the Dinka (Nilotics) and Hadza than to modern west Africans (Bantus),
This suggests either complex relationships between the groups or that some Bantus may have had ancestors from an unknown group of humans more ancient than the Bushmen.
Modern Bushmen have been evolving darker skins
Pygmies have been evolving shorter stature
I missed #12-13 on my previous post about this paper, though I did note that the more data we get on ancient African groups, the more likely I think we are to find ancient admixture events. If humans can mix with Neanderthals and Denisovans, then surely our ancestors could have mixed with Ergaster, Erectus, or whomever else was wandering around.
#15 is interesting, and consistent with the claim that Bushmen suffer from a lot of skin cancer–before the Bantu expansion, they lived in far more forgiving climates than the Kalahari desert. But since Bushmen are already lighter than their neighbors, this begs the question of how light their ancestors–who had no Levantine admixture–were. Could the Bantus’ and Nilotics’ darker skins have evolved after the Bushmen/everyone else split?
Meanwhile, in Loci Associated with Skin Pigmentation Identified in African Populations, Crawford et al used genetic samples from 1,570 people from across Africa to find six genetic areas–SLC24A5, MFSD12, DDB1, TMEM138, OCA2 and HERC2–which account for almost 30% of the local variation in skin color.
SLC24A5 is a light pigment introduced to east Africa from the Levant, probably around 3,000 years ago. Today, it is common in Ethiopia and Tanzania.
Interestingly, according to the article, “At all other loci, variants associated with dark pigmentation in Africans are identical by descent in southern Asian and Australo-Melanesian populations.”
These are the world’s other darkest peoples, such as the Jarawas of the Andaman Islands or the Melanesians of Bougainville, PNG. (And, I assume, some groups from India such as the Tamils.) This implies that these groups 1. had dark skin already when they left Africa, and 2. Never lost it on their way to their current homes. (If they had gotten lighter during their journey and then darkened again upon arrival, they likely would have different skin color variants than their African cousins.)
This implies that even if the Bushmen split off (around 200,000-300,000 YA) before dark skin evolved, it had evolved by the time people left Africa and headed toward Australia (around 100,000-70,000 YA.) This gives us a minimum threshold: it most likely evolved before 70,000 YA.
(But as always, we should be careful because perhaps there are even more skin color variant that we don’t know about yet in these populations.)
MFSD12 is common among Nilotics and is related to darker skin.
Further, the alleles associated with skin pigmentation at all loci but SLC24A5 are ancient, predating the origin of modern humans. The ancestral alleles at the majority of predicted causal SNPs are associated with light skin, raising the possibility that the ancestors of modern humans could have had relatively light skin color, as is observed in the San population today.
The full article is not out yet, so I still don’t know when all of these light and dark alleles emerged, but the order is absolutely intriguing. For now, it looks like this mystery will still have to wait.
It was only two years ago that researchers found the first ancient human genome in Africa: a skeleton in a cave in Ethiopia yielded DNA that turned out to be 4,500 years old.
On Thursday, an international team of scientists reported that they had recovered far older genes from bone fragments in Malawi dating back 8,100 years. The researchers also retrieved DNA from 15 other ancient people in eastern and southern Africa, and compared the genes to those of living Africans.
We assembled genome-wide data from 16 prehistoric Africans. We show that the anciently divergent lineage that comprises the primary ancestry of the southern African San had a wider distribution in the past, contributing approximately two-thirds of the ancestry of Malawi hunter-gatherers ∼8,100–2,500 years ago and approximately one-third of the ancestry of Tanzanian hunter-gatherers ∼1,400 years ago.
The San are also known as the Bushmen, a famous group of recent hunter-gatherers from southern Africa.
We document how the spread of farmers from western Africa involved complete replacement of local hunter-gatherers in some regions…
…and we track the spread of herders by showing that the population of a ∼3,100-year-old pastoralist from Tanzania contributed ancestry to people from northeastern to southern Africa, including a ∼1,200-year-old southern African pastoralist…
Whereas the two individuals buried in ∼2,000 BP hunter-gatherer contexts in South Africa share ancestry with southern African Khoe-San populations in the PCA, 11 of the 12 ancient individuals who lived in eastern and south-central Africa between ∼8,100 and ∼400 BP form a gradient of relatedness to the eastern African Hadza on the one hand and southern African Khoe-San on the other (Figure 1A).
The Hadza are a hunter-gatherer group from Tanzania who are not obviously related to any other people. Their language has traditionally been classed alongside the languages of the KhoiSan/Bushmen people because they all contain clicks, but the languages otherwise have very little in common and Hadza appears to be a language isolate, like Basque.
The genetic cline correlates to geography, running along a north-south axis with ancient individuals from Ethiopia (∼4,500 BP), Kenya (∼400 BP), Tanzania (both ∼1,400 BP), and Malawi (∼8,100–2,500 BP), showing increasing affinity to southern Africans (both ancient individuals and present-day Khoe-San). The seven individuals from Malawi show no clear heterogeneity, indicating a long-standing and distinctive population in ancient Malawi that persisted for at least ∼5,000 years (the minimum span of our radiocarbon dates) but which no longer exists today. …
We find that ancestry closely related to the ancient southern Africans was present much farther north and east in the past than is apparent today. This ancient southern African ancestry comprises up to 91% of the ancestry of Khoe-San groups today (Table S5), and also 31% ± 3% of the ancestry of Tanzania_Zanzibar_1400BP, 60% ± 6% of the ancestry of Malawi_Fingira_6100BP, and 65% ± 3% of the ancestry of Malawi_Fingira_2500BP (Figure 2A). …
Both unsupervised clustering (Figure 1B) and formal ancestry estimation (Figure 2B) suggest that individuals from the Hadza group in Tanzania can be modeled as deriving all their ancestry from a lineage related deeply to ancient eastern Africans such as the Ethiopia_4500BP individual …
So what’s up with the Tanzanian expansion mentioned in the summary?
Western-Eurasian-related ancestry is pervasive in eastern Africa today … and the timing of this admixture has been estimated to be ∼3,000 BP on average… We found that the ∼3,100 BP individual… associated with a Savanna Pastoral Neolithic archeological tradition, could be modeled as having 38% ± 1% of her ancestry related to the nearly 10,000-year-old pre-pottery farmers of the Levant … These results could be explained by migration into Africa from descendants of pre-pottery Levantine farmers or alternatively by a scenario in which both pre-pottery Levantine farmers and Tanzania_Luxmanda_3100BP descend from a common ancestral population that lived thousands of years earlier in Africa or the Near East. We fit the remaining approximately two-thirds of Tanzania_Luxmanda_3100BP as most closely related to the Ethiopia_4500BP…
…present-day Cushitic speakers such as the Somali cannot be fit simply as having Tanzania_Luxmanda_3100BP ancestry. The best fitting model for the Somali includes Tanzania_Luxmanda_3100BP ancestry, Dinka-related ancestry, and 16% ± 3% Iranian-Neolithic-related ancestry (p = 0.015). This suggests that ancestry related to the Iranian Neolithic appeared in eastern Africa after earlier gene flow related to Levant Neolithic populations, a scenario that is made more plausible by the genetic evidence of admixture of Iranian-Neolithic-related ancestry throughout the Levant by the time of the Bronze Age …and in ancient Egypt by the Iron Age …
There is then a discussion of possible models of ancient African population splits (were the Bushmen the first? How long have they been isolated?) I suspect the more ancient African DNA we uncover, the more complicated the tree will become, just as in Europe and Asia we’ve discovered Neanderthal and Denisovan admixture.
They also compared genomes to look for genetic adaptations and found evidence for selection for taste receptors and “response to radiation” in the Bushmen, which the authors note “could be due to exposure to sunlight associated with the life of the ‡Khomani and Ju|’hoan North people in the Kalahari Basin, which has become a refuge for hunter-gatherer populations in the last millenia due to encroachment by pastoralist and agriculturalist groups.”
(The Bushmen are lighter than Bantus, with a more golden or tan skin tone.)
They also found evidence of selection for short stature among the Pygmies (which isn’t really surprising to anyone, unless you thought they had acquired their heights by admixture with another very short group of people.)
Overall, this is a great paper and I encourage you to RTWT, especially the pictures/graphs.
Examining ethnically diverse African genomes, we identify variants in or near SLC24A5, MFSD12, DDB1, TMEM138, OCA2 and HERC2 that are significantly associated with skin pigmentation. Genetic evidence indicates that the light pigmentation variant at SLC24A5 was introduced into East Africa by gene flow from non-Africans. At all other loci, variants associated with dark pigmentation in Africans are identical by descent in southern Asian and Australo-Melanesian populations. Functional analyses indicate that MFSD12 encodes a lysosomal protein that affects melanogenesis in zebrafish and mice, and that mutations in melanocyte-specific regulatory regions near DDB1/TMEM138 correlate with expression of UV response genes under selection in Eurasians.
I’ve had an essay on the evolution of African skin tones sitting in my draft folder for ages because this research hadn’t been done. There’s plenty of research on European and Asian skin tones (skin appears to have significantly lightened around 10,000 years ago in Europeans,) but much less on Africans. Luckily for me, this paper fixes that.
Looks like SLC24A5 is related to that Levantine/Iranian back-migration into Africa documented in the first paper.
Zoroastrianism is one of the world’s oldest surviving religions and possibly its first monotheistic one. It emerged in now-Iran about 3,000 years ago, but following the Arab (Islamic) conquest of Persia, many Zoroastrians migrated to India, where they became known as the Parsi (from the word for “Persian.”) To be clear, where this post refers to “Parsis” it means the specific Zoroastrian community in India, and where it refers to “Iranian Zoroastrians” it means the Zoroastrians currently living in Iran.
Although Zoroastrianism was once the official state religion of Persia, today only about 190,000 believers remain (according to Wikipedia,) and their numbers are declining.
Portuguese physician Garcia de Orta observed in 1563 that “there are merchants … in the kingdom of Cambaia … known as Esparcis. We Portuguese call them Jews, but they are not so. They are Gentios.”
Another parallel: Ashkenazi Jews and Parsis are both reported to be very smart. Famous Parsis include Queen Guitarist Freddy Mercury, nuclear physicist Homi J. Bhabha, and our Harvard-employed friend, Homi K. Bhabha.
Historical records indicate that migrants from Persia brought Zoroastrianism to India, but there is debate over the timing of these migrations. Here we present genome-wide autosomal, Y chromosome, and mitochondrial DNA data from Iranian and Indian Zoroastrians and neighboring modern-day Indian and Iranian populations and conduct a comprehensive genome-wide genetic analysis in these groups. … we find that Zoroastrians in Iran and India have increased genetic homogeneity relative to other sampled groups in their respective countries, consistent with their current practices of endogamy. Despite this, we infer that Indian Zoroastrians (Parsis) intermixed with local groups sometime after their arrival in India, dating this mixture to 690–1390 CE and providing strong evidence that Iranian Zoroastrian ancestry was maintained primarily through the male line.
Note that all diasporic–that is, migrant–groups appear to be heavily male. Women tend to stay put while men move and take new wives in their new homelands.
By making use of the rich information in DNA from ancient human remains, we also highlight admixture in the ancestors of Iranian Zoroastrians dated to 570 BCE–746CE, older than admixture seen in any other sampled Iranian group, consistent with a long-standing isolation of Zoroastrians from outside groups. …
Admixture with whom? (Let’s just read the paper and see if it answers the question):
Furthermore, a recent study using genome-wide autosomal DNA found that haplotype patterns in Iranian Zoroastrians matched more than other modern Iranian groups to a high-coverage early Neolithic farmer genome from Iran …
A study of four restriction fragment length polymorphisms (RFLPs) suggested a closer genetic affinity of Parsis to Southern Europeans than to non-Parsis from Bombay. Furthermore, NRY haplotype analysis and patterns of variation at the HLA locus in the Parsis of Pakistan support a predominately Iranian origin. …
In (1) and (2), we detected admixture in the Parsis dated to 27 (range: 17–38) and 32 (19–44) generations ago, respectively, in each case between one predominantly Indian-like source and one predominantly Iranian-like source. This large contribution from an Iranian-like source (∼64%–76%) is not seen in any of our other 7 Indian clusters, though we detect admixture in each of these 7 groups from wide-ranging sources related to modern day individuals from Bangladesh, Cambodia, Europe, Pakistan, or of Jewish heritage (Figures 2 and S7, Tables S5–S7). For Iranian Zoroastrians, we detect admixture only under analysis (2), occurring 66 (42–89) generations ago between a source best genetically explained as a mixture of modern-day Croatian and Cypriot samples, and a second source matching to the Neolithic Iranian farmer WC1. … The two Iranian Zoroastrians that had been excluded as outliers exhibited admixture patterns more similar to the Lebanese, Turkish Jews, or Iranian Bandari individuals than to Zoroastrians (Table S8).
If I assume a generation is about 25 years long, 27 generations was about 675 years ago; 32 was about 800 years ago. (Though given the wide range on these dates, perhaps we should estimate between 425 and 1,100 years ago.) This sounds consistent with Parsis taking local wives after they arrived in India between the 8th and 10th century CE (after the Arab conquest of Perisa.) Also consistently, this admixture isn’t found in Iranian Zoroastrians.
The Iranians’ admixture occurred about 1,050 and 2,225 years ago, which is an awfully broad time range. Could Croatian or Cypriot migrants have arrived due to the Greek/Roma/ Byzantine Empires? Were they incorporated into the Persian Empire as a result of its territorial conquests or the Arab conquest? Or were they just long-distance merchants who happened to wander into the area?
The authors found that Parsi priests had “the lowest gene diversity values of all population samples studied for both Y and mtDNA,” though they didn’t have enough Iranian Zoroastrian priest samples to compare them to Parsi priests. (I bet this is similar to what you’d find if you sampled Orthodox rabbis.)
Finally, in the genetic selection and diseases section, the authors write:
In the case of the Iranian Zoroastrians, … some of the most significant SNPs… are located upstream of gene SLC39A10 … with an important role in humoral immunity61 or in CALB2 … which plays a major role in the cerebellar physiology.62
With regard to the positive selection tests on Parsis versus India Hindu/Gujarati groups, the most significant SNPs were embedded in WWOX … associated with neurological disorders like early epilepsy … and in a region in chromosome 20 … (see Table S11 for a complete list). …
Genetic isolation and endogamous practices can be associated with higher frequencies of disease prevalence. For example, there are reports claiming a high recurrence of diseases such as diabetes among the Iranian Zoroastrians, and Parkinson, colon cancer, or the deficiency of G6PD, an enzyme that triggers the sudden reduction of red blood cells, among the Parsis.
However, the authors warn that these results are weak (these are rare conditions in an already small population) and cannot not be depended upon.
Continuing with our discussion of German/Polish history/languages/genetics, let’s look at what some actual geneticists have to say.
(If you’re joining us for the first time, the previous two posts summarize to: due to being next door to each other and having been invaded/settled over the millennia by groups which didn’t really care about modern political borders, Polish and German DNA are quite similar. More recent events, however, like Germany invading Poland and trying to kill all of the Poles and ethnic Germans subsequently fleeing/being expelled from Poland at the end of the war have created conditions necessary for genetic differentiation in the two populations.)
So I’ve been looking up whatever papers I can find on the subject.
The male genetic landscape of the European continent has been shown to be clinal and influenced primarily by geography rather than by language.1 One of the most outstanding phenomena in the Y-chromosomal diversity in Europe concerns the population of Poland, which reveals geographic homogeneity of Y-chromosomal lineages in spite of a relatively large geographic area seized by the Polish state.2 Moreover, a sharp genetic border has been identified between paternal lineages of neighbouring Poland and Germany, which strictly follows a political border between the two countries.3 Massive human resettlements during and shortly after the World War II (WWII), involving millions of Poles and Germans, have been proposed as an explanation for the observed phenomena.2, 3 Thus, it was possible that the local Polish populations formed after the early Slavic migrations displayed genetic heterogeneity before the war owing to genetic drift and/or gene flow with neighbouring populations. It has been also suggested that the revealed homogeneity of Polish paternal lineages existed already before the war owing to a common genetic substrate inherited from the ancestral Slavic population after the Slavs’ early medieval expansion in Europe.2 …
We used high-resolution typing of Y-chromosomal binary and microsatellite markers first to test for male genetic structure in the Polish population before massive human resettlements in the mid-20th century, and second to verify if the observed present-day genetic differentiation between the Polish and German paternal lineages is a direct consequence of the WWII or it has rather resulted from a genetic barrier between peoples with distinct linguistic backgrounds. The study further focuses on providing an answer to the origin of the expansion of the Slavic language in early medieval Europe. For the purpose of our investigation, we have sampled three pre-WWII Polish regional populations, three modern German populations (including the Slavic-speaking Sorbs) and a modern population of Slovakia. …
AMOVA in the studied populations revealed statistically significant support for two linguistically defined groups of populations in both haplogroup and haplotype distributions (Table 2). It also detected statistically significant genetic differentiation for both haplogroups and haplotypes in three Polish pre-WWII regional populations (Table 2). The AMOVA revealed small but statistically significant genetic differentiation between the Polish pre-war and modern populations (Table 2). When both groups of populations were tested for genetic structure separately, only the modern Polish regional samples showed genetic homogeneity (Table 2). Regional differentiation of 10-STR haplotypes in the pre-WWII populations was retained even if the most linguistically distinct Kashubian speakers were excluded from the analysis (RST=0.00899, P=0.01505; data not shown). Comparison of Y chromosomes associated with etymologically Slavic and German surnames (with frequencies provided in Table 1) did not reveal genetic differentiation within any of the three Polish regional populations for all three (FST, ΦST and RST) genetic distances. Moreover, the German surname-related Y chromosomes were comparably distant from Bavaria and Mecklenburg as the ones associated with the Slavic surnames (Supplementary Figure S2). MDS of pairwise genetic distances showed a clear-cut differentiation between German and Slavic samples (Figure 2). In addition, the MDS analysis revealed the pre-WWII populations from northern, central and southern Poland to be moderately scattered in the plot, on the contrary to modern Polish regional samples, which formed a very tight, homogeneous cluster (Figure 3).
This all seems very reasonable. Modern Poland is probably more homogenous than pre-war Poland in part because modern Poles have cars and trains and can marry people from other parts of Poland much more easily than pre-war Poles could, and possibly because the war itself reduced Polish genetic diversity and displaced much of the population.
Genetic discontinuity along the Polish-German border also makes sense, as national, cultural, and linguistic boundaries all make intermarriage more difficult.
The Discussion portion of this paper is very interesting; I shall quote briefly:
Kayser et al3 revealed significant genetic differentiation between paternal lineages of neighbouring Poland and Germany, which follows a present-day political border and was attributed to massive population movements during and shortly after the WWII. … it remained unknown whether Y-chromosomal diversity in ethnically/linguistically defined Slavic and German populations, which used to be exposed to intensive interethnic contacts and cohabit ethnically mixed territories, was clinal or discontinuous already before the war. In contrast to the regions of Kaszuby and Kociewie, which were politically subordinated to German states for more than three centuries and before the massive human resettlements in the mid-20th century occupied a narrow strip of land between German-speaking territories, the Kurpie region practically never experienced longer periods of German political influence and direct neighbourhood with the German populations. Lusatia was conquered by Germans in the 10th century and since then was a part of German states for most of its history; the modern Lusatians (Sorbs) inhabit a Slavic-speaking island in southeastern Germany. In spite of the fact that these four regions differed significantly in exposure to gene flow with the German population, our results revealed their similar genetic differentiation from Bavaria and Mecklenburg. Moreover, admixture estimates showed hardly detectable German paternal ancestry in Slavs neighbouring German populations for centuries, that is, the Sorbs and Kashubes. However, it should be noted that our regional population samples comprised only individuals of Polish and Sorbian ethnicity and did not involve a pre-WWII German minority of Kaszuby and Kociewie, which owing to forced resettlements in the mid-20th century ceased to exist, and also did not involve Germans constituting since the 19th century a majority ethnic group of Lusatia. Thus, our results concern ethnically/linguistically rather than geographically defined populations and clearly contrast the broad-scale pattern of Y-chromosomal diversity in Europe, which was shown to be strongly driven by geographic proximity rather than by language.1 …
Two main factors are believed to be responsible for the Slavic language extinction in vast territories to the east of the Elbe and Saale rivers: colonisation of the region by the German-speaking settlers, known in historical sources as Ostsiedlung, and assimilation of the local Slavic populations, but contribution of both factors to the formation of a modern eastern German population used to remain highly speculative.8 Previous studies on Y-chromosomal diversity in Germany by Roewer et al17 and Kayser et al3 revealed east–west regional differentiation within the country with eastern German populations clustering between western German and Slavic populations but clearly separated from the latter, which suggested only minor Slavic paternal contribution to the modern eastern Germans. Our ancestry estimates for the Mecklenburg region (Supplementary Table S3) and for the pooled eastern German populations, assessed as being well below 50%, definitely confirm the German colonisation with replacement of autochthonous populations as the main reason for extinction of local Slavic vernaculars. The presented results suggest that early medieval Slavic westward migrations and late medieval and subsequent German eastward migrations, which outnumbered and largely replaced previous populations, as well as very limited male genetic admixture to the neighbouring Slavs (Supplementary Table S4), were likely responsible for the pre-WWII genetic differentiation between Slavic- and German-speaking populations. Woźniak et al18 compared several Slavic populations and did not detect such a sharp genetic boundary in case of Czech and Slovak males with genetically intermediate position between other Slavic and German populations, which was explained by early medieval interactions between Slavic and Germanic tribes on the southern side of the Carpathians. Anyway, paternal lineages from our Slovak population sample were genetically much closer to their Slavic than German counterparts. …
Note that they are discussing paternal ancestry. This does not rule out the possibility of significant Slavic maternal ancestry. Finally:
Our coalescence-based divergence time estimates for the two isolated western Slavic populations almost perfectly match historical and archaeological data on the Slavs’ expansion in Europe in the 5th–6th centuries.4 Several hundred years of demographic expansion before the divergence, as detected by the BATWING, support hypothesis that the early medieval Slavic expansion in Europe was a demographic event rather than solely a linguistic spread of the Slavic language.
I left out a lot of interesting material, so I recommend reading the complete discussion if you want to know more about Polish/German genetics.
Mitochondrial DNA (mtDNA) sequence variation was examined in Poles (from the Pomerania-Kujawy region; n = 436) and Russians (from three different regions of the European part of Russia; n = 201)… The classification of mitochondrial haplotypes revealed the presence of all major European haplogroups, which were characterized by similar patterns of distribution in Poles and Russians. An analysis of the distribution of the control region haplotypes did not reveal any specific combinations of unique mtDNA haplotypes and their subclusters that clearly distinguish both Poles and Russians from the neighbouring European populations. The only exception is a novel subcluster U4a within subhaplogroup U4, defined by a diagnostic mutation at nucleotide position 310 in HVS II. This subcluster was found in common predominantly between Poles and Russians (at a frequency of 2.3% and 2.0%, respectively) and may therefore have a central-eastern European origin. …
The analysis of mtDNA haplotype distribution has shown that both Slavonic populations share them mainly with Germans and Finns. The following numbers of the rare shared haplotypes and subclusters were found between populations analyzed: 10% between Poles and Germans, 7.4% between Poles and Russians, and 4.5% between Russians and Germans. A novel subcluster U4-310, defined by mutation at nucleotide position 310 in HVS II, was found predominantly in common between Poles and Russians (at frequency of 2%). Given the relatively high frequency and diversity of this marker among Poles and its low frequency in the neighbouring German and Finnish populations, we suggest a central European origin of U4-310, following by subsequent dispersal of this mtDNA subgroup in eastern European populations during the Slavonic migrations in early Middle Ages.
In other words, for the most part, Poles, Russians, Germans, and even Finns(!) (who do not speak an Indo-European language and are usually genetic outliers in Europe,) all share their maternal DNA.
Migrants, immigrants, and invaders tend disproportionately to be male (just look at any army) while women tend to stay behind. Invading armies might wipe each other out, but the women of a region are typically spared, seen as booty similar to cattle to be distributed among the invaders rather than killed. Female populations therefore tend to be sticky, in a genetic sense, persisting long after all of the men in an area were killed and replaced. The dominant Y-chromosome haplogroup in the area (R1a) hails from the Indo-European invasion (except in Finland, obviously,) but the mtDNA likely predates that expansion.
These data allow us to suggest that Europeans, despite their linguistic differences, originated in the common genetic substratum which predates the formation of the most modern European populations. It seems that considerable genetic similarity between European populations, which has been revealed by mtDNA variation studies, was further accelerated by a process of gene redistribution between populations due to the multiple migrations occurring in Europe during the past milenia…
It is interesting, though, that recent German invasions of Poland left very little in the way of a genetic contribution. I’d wager that WWII was quite a genetic disaster for everyone involved.
If you want more information, Khazaria has a nice list of studies plus short summaries on Polish DNA.
Commentator Unknown123 asks what we can tell about the differences between German and Polish DNA. Obviously German is here referring to one of the Germanic peoples who occupy the modern nation of Germany and speak a Germanic language. But as noted before, just because people speak a common language doesn’t necessarily mean they have a common genetic origin. Germans and English both speak Germanic languages , but Germans could easily share more DNA with their Slavic-language speaking neighbors in Poland than with the English.
It is suggested by geneticists that the movements of Germanic peoples has had a strong influence upon the modern distribution of the male lineage represented by the Y-DNAhaplogroup I1, which is believed to have originated with one man, who lived approximately 4,000 to 6,000 years somewhere in Northern Europe, possibly modern Denmark … There is evidence of this man’s descendants settling in all of the areas that Germanic tribes are recorded as having subsequently invaded or migrated to.[v] However, it is quite possible that Haplogroup I1 is pre-Germanic, that is I1 may have originated with individuals who adopted the proto-Germanic culture, at an early stage of its development or were co-founders of that culture. Should that earliest Proto-Germanic speaking ancestor be found, his Y-DNA would most likely be an admixture of the aforementioned I1, but would also contain R1a1a, R1b-P312 and R1b-U106, a genetic combination of the haplogroups found among current Germanic speaking peoples. …
According to a study published in 2010, I-M253 originated between 3,170 and 5,000 years ago, in Chalcolithic Europe. A new study in 2015 estimated the origin as between 3,470 and 5,070 years ago or between 3,180 and 3,760 years ago, using two different techniques. It is suggested that it initially dispersed from the area that is now Denmark.
A 2014 study in Hungary uncovered remains of nine individuals from the Linear Pottery culture, one of whom was found to have carried the M253 SNP which defines Haplogroup I1. This culture is thought to have been present between 6,500 and 7,500 years ago.
In 2002 a paper was published by Michael E. Weale and colleagues showing genetic evidence for population differences between the English and Welsh populations, including a markedly higher level of Y-DNA haplogroup I in England than in Wales. They saw this as convincing evidence of Anglo-Saxon mass invasion of eastern Great Britain from northern Germany and Denmark during the Migration Period. The authors assumed that populations with large proportions of haplogroup I originated from northern Germany or southern Scandinavia, particularly Denmark, and that their ancestors had migrated across the North Sea with Anglo-Saxon migrations and DanishVikings. The main claim by the researchers was:
“That an Anglo-Saxon immigration event affecting 50–100% of the Central English male gene pool at that time is required. We note, however, that our data do not allow us to distinguish an event that simply added to the indigenous Central English male gene pool from one where indigenous males were displaced elsewhere or one where indigenous males were reduced in number … This study shows that the Welsh border was more of a genetic barrier to Anglo-Saxon Y chromosome gene flow than the North Sea … These results indicate that a political boundary can be more important than a geophysical one in population genetic structuring.”
In 2003 a paper was published by Christian Capelli and colleagues which supported, but modified, the conclusions of Weale and colleagues. This paper, which sampled Great Britain and Ireland on a grid, found a smaller difference between Welsh and English samples, with a gradual decrease in Haplogroup I frequency moving westwards in southern Great Britain. The results suggested to the authors that Norwegian Vikings invaders had heavily influenced the northern area of the British Isles, but that both English and mainland Scottish samples all have German/Danish influence.
But the original question was about Germany and Poland, not England and Wales, so we are wandering a bit off-track.
A score of “1” on this graph means that the two populations in question are identical–fully inter-mixing. The closer to 1 two groups score, the more similar they are. The further from one they score, (the bigger the number,) the more different they are.
For example, the most closely related peoples on the graph are Austrians and their neighbors in southern Germany and Hungary (despite Hungarians speaking a non-Indo-European language brought in by recent steppe invaders.) Both groups scored 1.04 relative to Austrians, and a 1.08 relative to each other.
Northern and southern Germans also received a 1.08–so southern Germans are about as closely related to northern Germans as they are to Hungarians, and are more closely related to Austrians than to northern Germans.
This might reflect the pre-Roman empire population in which (as we discussed in the previous post) the Celtic cultures of Hallstatt and La Tene dominated a stretch of central Europe between Austria and Switzerland, with significant expansion both east and west, whilst the proto-Germanic peoples occupied northern Germany and later spread southward.
The least closely related peoples on the graph are (unsurprisingly) the Sami (Lapp) town of Kuusamo in northeastern Finland and Spain, at 4.21. (Finns are always kind of outliers in Europe, and Spaniards are kind of outliers in their own, different way, being the part of mainland Europe furthest from the Indo-European expansion starting point and so having received fewer invaders.
So what does the table say about Germans and their neighbors?
South Germany 1.08
Czech Repub 1.15
North Germany 1.08
Czech Repub 1.16
Czech Repub 1.09
North Germany 1.18
South Germany 1.23
Obviously I didn’t include all of the data in the original table; all of the other sampled European groups, such as Italians, Spaniards, and Finns are genetically further away from north and south Germany and Poland than the listed groups.
So northern Germany and Poland are quite closely related–even closer than northern Germans are to the French (whose country is named after a Germanic tribe, the Franks, who conquered it during the Barbarian Migrations at the Fall of the Roman Empire,) or the Swiss, many of whom speak German. By contrast, southern Germany is more closely related to France and Switzerland than to Poland, but still more closely related to the Poles than Italians or Spaniards.
The history of humanity’s long sojourn across the globe has resulted in, more or less, three main super-clades, or races: Sub-Saharan Africans, Caucasians, and Asians. The words we use for these are not perfect (“Caucasian” is particularly imprecise,) but do the job well enough.
The Asian super-clade has three main branches: Melanesians (and Aborigines,) who traveled south into the Pacific; the Native Americans, who settled North and South America some 13-40,000 years ago; and of course the East Asians, like the Chinese, Japanese, and Polynesians.
(Amusingly, Indians, though they clearly live in Asia, are part of the Caucasian clade because they are more closely related to Middle Easterners and Europeans than Chinese people. As a result, Indians were–for a while—recorded as “white” on US censuses, though today they are recorded as “Asian.”)
People are fond of saying that the SS African race contains the greatest genetic diversity (as well it might, due to the inclusion of groups like the Pygmies and Bushmen, who may have split off from other human groups over 100,000 years ago,) but the Asian race has the greatest pre-Columbian geographic/environmental range, stretching from Australia and Polynesia to Siberia and Greenland, from Mongolia to Patagonia.
Trying to offer a single, coherent description of the physical appearances of such a diverse range of peoples is nearly impossible. They range in skin tone from almost white to as black as most of Africa; in stature from slight, Pygmy-like Negritos to the formidable Comanches (who in the 1800s were among the world’s tallest measured people;) and in average reported IQs from >105 to >65. (Okay, IQ isn’t appearance.)
We will be able to speak much more meaningfully about appearances when we address each of the sub-races.
Here are the relevant portions from Haak et al’s lovely dataset:
On the left, we have the Native American DNA, from the depths of the Amazonian rainforest to the tribes of upstate New York. The olive green section are the Inuit/Eskimo and related Russian groups. The Inuit (who appear to have wiped out the earlier Dorset people,) share a great deal of DNA with other Siberians, eg the Yakuts (a Turkic people) and the Nganasan, (who speak a highly divergent language of the Samoyedic branch of the Uralic family, which also includes the Finnish, Hungarian, and Sami languages–language is a very bad guide to genetics.)
The pale peach are the Onge, who live in India’s Andaman Islands; purple the people of Papua New Guinea and Australia.
The very yellow part is all of the groups normally thought of as “East Asian,” like Japanese, Chinese, and Thai. Yellow is most dominant in the aboriginal people of Taiwan (who were there before the Chinese started migrating there in the past few hundred years,) and are the ancestors of the (not pictured) Polynesian peoples of Hawaii, Easter Island, and New Zealand. (I think they picked up some Melanesian DNA on the way.)
And on the right we have the various peoples of Siberia and central Asia.
I think it an open question whether the Melanesians and Aborigines ought to be properly classed with the other Asians, or awarded their own clade.
According to Masatoshi Nei, a biology professor at Pennsylvania State University, the ancestors of today’s Asians and Caucasians split into two separate groups around 41,000 years ago, (give or take 15,000 years,) and their ancestors split from the ancestors of modern Africans–the “Out of Africa Event”–around 114,000 years ago, (give or take 34,000 years.)
BERLIN (AP) — The human populations now predominant in Eurasia and East Asia probably split between 36,200 and 45,000 years ago, according to a study released Thursday.
Researchers used new techniques to analyze genetic samples from the shin bone of a young man who died at least 36,200 years ago near Kostenki-Borshchevo in what is now western Russia. The study, published in the journal Science, concludes that Kostenki man shared genetic sequences with contemporary Europeans, but not East Asians.
A separate study published last month in the journal Nature determined that a 45,000-year old sample found in Siberia contained sequences ancestral to both modern East Asians and Europeans.
In a genetic study in 2011, researchers found evidence, in DNA samples taken from strands of Aboriginal people’s hair, that the ancestors of the Aboriginal population split off from the ancestors of the European and Asian populations between 65,000 and 75,000 years ago—roughly 24,000 years before the European and Asian populations split off from each other. These Aboriginal ancestors migrated into South Asia and then into Australia…
The first complete sequences of the Y chromosomes of Aboriginal Australian men have revealed a deep indigenous genetic history tracing all the way back to the initial settlement of the continent 50 thousand years ago, according to a study published in the journal Current Biology today.
So on the one hand, race is biological and real, and on the other, it’s a social construct. Australian Aborigines are more closely related to other Asians than to, say, Europeans or Africans, but the Chinese are more closely related to Europeans than to Aborigines.
One reason why Australians and other Melanesians appear so divergent from other Asian populations maybe their Denisovan (or other human) DNA. Most (if not all) human groups appear to have picked up DNA from some other, non-Homo Sapiens source. Europeans, East Asians, and Native Americans all have a small percent of Neanderthal DNA. Africans, IIRC, have a small % of some local African homin. And Melanesians/Australians have a small % of Denisovan DNA (Denisovans were a less-well-known cousin of the Neanderthals.)
WARNING: This post is full of speculations that I am recording for my own sake but are highly likely to be wrong!
Hey, did you know that this isn’t actually Haak et al’s full DNA graph? The actual full dataset looks like this:
Isn’t it beautiful?
You’re going to have to click for the full size–sorry I couldn’t fit it all into one screen cap. I’m also sorry that the resolution is poor, and therefore you can’t read the labels (though you should be able to figure out which is which if you just compare with the smaller graphic at the top of the screen. (Supposedly there’s a higher resolution version of this out there, but I couldn’t find it.)
Why the reliance on a greatly cropped image? Just the obvious: the big one is unwieldy, and most of the data people are interested in is at the top.
But the data at the bottom is interesting, too.
On the lefthand side of the graph, we have a measure of granularity–how much fine detail we are getting with our genetic data. The bottom row, therefore, shows us the largest genetic splits between groups–presumably, the oldest splits.
From left to right, we have selections of different ethnic groups’ DNA. Old European skeletons constitute the first group; the mostly pink with some brown section is Native North/South American; the blue and green section is African; the big wide orange section is mostly European and Middle Eastern; then we have some kind of random groups like the Inuit (gold), Onge (pink, Indian Ocean), and Australian Aborigines; the heavily green areas are India; the mixed-up area splitting the green is Eurasian steppe; the yellow area is East Asian; and the final section is Siberian.
Level One: Sub-Saharan Africa (SSA) vs. Non-Sub-Saharan Africa
The bottom row shows us, presumably, the oldest split, between the orange and the blue. All of these light blue groups, from the Ju Hoan (Bushmen/San) to the Yoruba (Nigeria,) Somalis to Hadza (Tanzania,) African Americans to Shua (Khoe speakers of Namibia/Botswana,) are from Africa–sub-Saharan Africa, I’d wager (though I’m not sure whether Ethiopia and Somalia are considered “sub-Saharan.”)
All of the other groups–including the sampled north-African groups like Saharawari (from Western Sahara,) Tunisians, Algerians, Mozabites (Algeria,) and Egyptians–show up in orange.
(Note: Light green and orange are completely arbitrary color choices used to represent the DNA in these graphs; there is nothing inherently “orange” or “green” or any other color about DNA.)
I would not actually have predicted this–other studies I have read predicted that the split between the Bushmen, Pygmies, and other groups in Africa went back further in Africa than the split between Africans and non-Africans, but perhaps the Sahara has been the most significant barrier in human history.
Interestingly, the split is not absolute–there are Sub-Saharan groups with non-SSA admixture, and non-SSA groups with SSA admixture. In fact, most of the SSA groups sampled appear to have some non-SSA admixture, which probably has something to do with back-migration over the centuries; predictably, this is highest in places like Somalia and Ethiopia, fairly high along the east coast of Africa (which has historically been linked via monsoon trade routes to other, non-African countries;) and in African Americans (whose admixture is much more recent.) (Likewise, the admixture found in some of the hunter-gatherer peoples of southern Africa could be relatively recent.)
The Non-SSA groups with the most SSA admixture, are north African groups like the aforementioned Algerians and Tunisians; Middle Eastern groups like the Druze, Syrians, Bedouins, Jordanians, etc.; “Mediterranean” groups like the Sicilians and Maltese; various Jewish groups that live in these areas; and a tiny bit that shows up in the people of the Andaman Islands, Australia, and PNG.
(Oh, and in various old European skeletons.)
Level Two: “Western” vs. “Eastern”
Moving on to level two, we have the next big split, between “Easterners” (mostly Asians) and “Westerners” (mostly Europeans and Middle-Easterners.)
Natives of North/South America, Inuits, Andaman Islanders, Australian Aborigines, Papuans, the Kharia (an Indian tribe that has historically spoken a non-Indo-European language,) some central or northern Asian steppe peoples like the Evens (Siberians,) and of course everyone from the Kusunda (Nepal) through China and Japan and up through, well, more Siberians like the Yakuts, all show up as mostly yellow.
Everyone from Europe, the Middle East, the Caucuses, and all of the sampled Indian populations except the Kharia have orange.
A bunch of little groups from the middle of Eurasia show up as about half-and-half.
Interestingly, some of the older European hunter-gatherer skeletons have small quantities of “Eastern” DNA; this may not represent admixture so much as common ancestry. It also shows up, predictably, in Turkey and the Caucuses; in Russia/Finns; tiny quantities in places like the Ukraine; and quite significantly in India.
Significant “Western” admixture shows up in various Natives North/South Americans (probably due to recent admixture,) the Andaman Islands, Aborigines, PNG, (this may represent something to do with a common ancestor rather than admixture, per se,) and Siberia.
Level Three: Native North/South Americans vs. “Easterners”
At this point, the “light pink” shows up in all of the sampled indigenous tribes of North and South America. A fair amount of it also shows up in the Inuit, and a small quantity in various Siberian tribes. A tiny quantity also show up in some of the older European skeletons (I suspect this is due to older skeletons being more similar to the common ancestors before the splits than trans-Atlantic contact in the stone age, but it could also be due to a small Siberian component having made its way into Europe.)
Even at this level, there is a big difference evident between the groups from Central and South America (almost pure pink) and those from northern North America, (significant chunk of orange.) Some (or all) of that may be due to recent admixture due to adoption of and intermarrying with whites, but some could also be due to the ancestors of the Chipewyans etc. having started out with more, due to sharing ancestors from a more recent migration across the Bering Strait. I’m speculating, of course.
Level Four: Intra-African splits
I don’t know my African ethnic groups like I ought to, but basically we have the Bushmen (aka San,) and I think some Khoe / Khoi peoples in green, with a fair amount of green also showing up in the Pygmies and other hunter-gatherers like the Hadza, plus little bits showing up in groups like the Sandawe and South African Bantus.
Level Five: Australian Aborigines, PNG, and Andamanese split off.
Some of this DNA is shared with folks in India; a tiny bit shows up in central Asia and even east Asia.
Level Six: Red shows up.
This reddish DNA is found in all “Siberian” peoples, people who might have moved recently through Siberia, and people who might be related to or had contact with them. It’s found throughout East Asia, eg, Japan and China, but only found in high quantities among the Inuit and various Siberian groups. At this resolution, oddly, no one–except almost the Itelmen and Koryak–is pure reddish, but at higher resolutions the Nganasan are, while the Itelmen and Koryak aren’t.
Level Seven: The “Indos” of the Indo-Europeans show up
Although no pure light green people have yet been found, their DNA shows up everywhere the Indo-Europeans (aka Yamnaya) went, with their highest concentration in India. Perhaps the light green people got their start in India, and later a group of them merged with the dark blue people to become the Yamnaya, a group of whom then migrated back into India, leaving India with a particularly high % of light green DNA even before the dark blue shows up.
Interestingly, some of this light green also show up in the Andamanese.
Level Eight: The “Europeans” of the Indo-Europeans show up
The dark blue color originates, in the left-hand side of the graph, with a several-thousand years old population of European hunter-gatherers which, as you can see in the slightly younger populations on the far left, nearly got wiped out by a nearly pure orange population of farmers that migrated into Europe from the Middle East. This dark blue population managed to survive out on the Eurasian Steppe, which wasn’t so suited to farming, where it merged with the light-green people. They became the Yamnaya aka the Indo-Europeans. They then spread back into Europe, the Middle East, India, central Asia, and Siberia. (The dark blue in modern Native American populations is probably due to recent admixture.)
Level Nine: The Hadza
The Hadza (a hunter-gatherer people of Tanzania) now show up as bright pink. No one else has a lot of bright pink, but the Pygmies (Mbutu and Biaka,) as well as a variety of other eastern-African groups located near them, like the Luo, Masai, and the Somalis have small amounts.
Level Ten: The Onge (Andamanese)
Not much happens here, but the Onge (from the Andaman Islands) turn peach and stay that way. It looks like a small amount of peach DNA may also be found across part of India (southern India, I’m assuming.)
The Chipewyans turn brown; brown is also found in small quantities in Central America, in moderate quantities in eastern North America, and in the Eskimo/Inuit.
Level Twelve: Pygmies
The Biaka and Mbuti Pygmies differentiate from their neighbors. Tiny quantities of Pygmy DNA found in probably-nearby peoples.
Level Thirteen: Inuit/Eskimo
They become distinctly differentiated from other North American or Siberian tribes (olive green.), Their olive green shade is found in small quantities in some Siberian tribes, but interestingly, appears to be totally absent from other Native American tribes.
Level Fourteen: Horn of Africa
A dusty peach tone is used for groups in the Horn of Africa like the Somalis and Ethiopians, as well as nearby groups like the Dinka. Small amounts of dusty peach are are also found along the East Africa, North Africa, and the Middle East. Smaller amounts appear to be in a variety of other groups related to the Bushmen.
Level Fifteen: The light green turns teal
All of the light green in Europe turns teal, but much of the light green in India stays light green. (Teal also shows up in India.) I have no idea why, other than my aforementioned theory that India had more light green to start with.
Level Sixteen: Amazon Rainforest tribes
The Kuritiana and Suri show up in light olive; light olive is also found in small quantities in other parts of Central and South America, and tiny bits in parts of North America, and maybe tiny amounts in the Eskimo but I don’t see any in the Chukchi, Itelmen, etc.
Level Seventeen: Bedouins
The Bedouins turn light purple; this DNA is also found through out the Middle East, Turkey, North Africa, the Mediterranean (eg Sicily), Greece, Albania, Spain, Bulgaria, Ashkenazim, and a tiny bit In India.
Level Eighteen: Some Bushmen appear to split off from some other Bushmen.
I don’t know much about these groups.
Level Nineteen: Nothing interesting appears to happen.
Please remember that all of this is me speculating. I am definitely not an educated source on these matters, but I hope you’ve had as much fun as I’ve had peering at the DNA and thinking about how people might have moved around and mixed and split to make the colors.
Archaeologist Helen Archer said: “The signs, which include ‘Any old iron? NO THANKS,’ and ‘IRON? IR NO,’ a primitive attempt at wordplay, show that the residents were up in arms about climate-based migration patterns.
Note: The Daily Mash is a humor/satire site, similar to The Onion.
Anyway, on to the genetics!
Haak et al. made this graph, but I rearranged it so that the oldest samples are on the left and the newest ones are on the right. When multiple samples were about the same age, I ordered them from west to east (that is, from left to right as you look at a standard map. Unless you are in Australia.) I’ve added the dates (shown as ranges) that were in Haak’s paper. Note the asterisk under Karsdorf–those dates are still uncertain.
The first three genomes are from super old skeletons found out in, like, Russia. I don’t know why they look so crazy–maybe because the DNA is really old and so not very good, or maybe because they actually had a bunch of different DNA in them, or maybe because they’re ancestral to a bunch of different groups. I don’t know! Luckily, it doesn’t really matter for today’s post, so I’ll investigate them later.
Approximately 28,000 years later, we have the Blue People, also known as “Western European Hunter Gatherers,” or WHG. There were people in Europe in intervening 28,000 years; they just aren’t on the table, and I don’t know if anyone has successfully sequenced their genomes yet. (More research required.)
As you might guess, the WHG people hunted and gathered. They had stone tools, and were quite widespread, ranging from Spain (the La Brana1 site,) to Sweden to Samara, Russia (and probably beyond.)
And then some new guys showed up: Farmers.
Known as the Early Eurasian Farmers (EEF,) they first appear on our graph in Starcevo, Serbia, their DNA in orange. They came from the Middle East (the birthplace of agriculture,) bringing their wheat, permanent settlements, and livestock.
These farmers quickly overran the hunter-gatherers throughout western Europe (though the northern extremes held out longer, most likely due to crops that originated in the Middle East taking a while to adapt to the harsh Scandinavian climate.)
The hunter gatherers disappeared (most likely slaughtered by the farmers, but perhaps merely overwhelmed numerically) but their DNA lives on in the descendants of those first farmers. Some groups may have combined willingly–others, as the spoils of war. Within the Farmers’ range, the only place the hunter-gatherers managed to live on appears to be a small island off the coast of Sweden (the second “Skoglund” sample.)
But to the east, out on the Eurasian steppes, the hunter-gatherers lived on. The steppes are known more for their rampaging hordes than their farmers, and this is exactly what they became.
The Yamnaya, as we now call them, are about half WHG and half some new population (I call them the Teal People.) As far as I know, no “pure” teal people have yet been found, but teal DNA is all over the place, from India to Spain.
Teal and blue DNA in India central Asia, and Siberia:
The Yamnaya are also known as the Proto-Indo-Europeans–the guys who spoke the language ancestral to all of today’s Indo-European languages. And like all conquering barbarian hordes, they expanded out of their homeland in present-day southern Russia (north of the Caucuses,) and conquered everything in their path.
Just eyeballing the graph, it looks like the resulting peoples are about half Yamnaya, and about half EEF. This tri-part inheritance is still seen in every European population (and some of their neighbors) today:
If we didn’t have the ancient DNA–or if we had less of it–it would be easy to think that the Blue component in modern Europeans had come directly from the ancient WHG population that lived in their particular area. Instead, much (if not most) of the modern “blue” component hails from the steppes of Russia–a remarkable comeback for the WHGs.
Oh, and the “indigenous” people of Europe? They’re all indigenous to the continent.
Some more helpful graphs, maps, and information:
On the Iceman, aka Otzi: found in the Alps on the Italian-Austrian border; Same age as Sweden, between 3359 and 3105 BCE. (Hailed from the vicinity of Feldthurns, Italy.)
Analysis of the mtDNA of Ötzi the Iceman, the frozen mummy from 3,300 BC found on the Austrian–Italian border, has shown that Ötzi belongs to the K1 subclade. It cannot be categorized into any of the three modern branches of that subclade (K1a, K1b or K1c). The new subclade has provisionally been named K1ö for Ötzi. Multiplex assay study was able to confirm that the Iceman’s mtDNA belongs to a new European mtDNA clade with a very limited distribution amongst modern data sets.” (source)
Otzi ate grain but was lactose intolerant.
His Y DNA is haplogroup G, which is now rare in Europe:
Various estimated dates and locations have been proposed for the origin of Haplogroup G. The National Geographic Society places haplogroup G origins in the Middle East 30,000 years ago and presumes that people carrying the haplogroup took part in the spread of the Neolithic. Two scholarly papers have also suggested an origin in the Middle East, while differing on the date. …
Haplogroup G2a(SNP P15+) has been identified in neolithic human remains in Europe dating between 5000-3000BC. Furthermore, the majority of all the male skeletons from the European Neolithic period have so far yielded Y-DNA belonging to this haplogroup. The oldest skeletons confirmed by ancient DNA testing as carrying haplogroup G2a were five found in the Avellaner cave burial site for farmers in northeastern Spain and were dated by radiocarbon dating to about 7000 years ago. At the Neolithic cemetery of Derenburg Meerenstieg II, north central Germany, with burial artifacts belonging to the Linear Pottery culture, known in German as Linearbandkeramik (LBK). This skeleton could not be dated by radiocarbon dating, but other skeletons there were dated to between 5,100 and 6,100 years old. The most detailed SNP mutation identified was S126 (L30), which defines G2a3. G2a was found also in 20 out of 22 samples of ancient Y-DNA from Treilles, the type-site of a Late Neolithic group of farmers in the South of France, dated to about 5000 years ago. The fourth site also from the same period is the Ötztal of the Italian Alps where the mummified remains of Ötzi the Iceman were discovered. Preliminary word is that the Iceman belongs to haplogroup G2a2b  (earlier called G2a4).
Haplogroup G2a2b is a rare group today in Europe. (source)
… In October 2013, it was reported that 19 modern Tyrolean men were related to Ötzi. Scientists from the Institute of Legal Medicine at Innsbruck Medical University had analysed the DNA of over 3,700 Tyrolean male blood donors and found 19 who shared a particular genetic mutation with the 5,300-year-old man, which led them to identify the link.
The Great Hungarian Plain was a crossroads of cultural transformations that have shaped European prehistory. Here we analyse a 5,000-year transect of human genomes, sampled from petrous bones giving consistently excellent endogenous DNA yields, from 13 Hungarian Neolithic, Copper, Bronze and Iron Age burials including two to high (~22 × ) and seven to ~1 × coverage, to investigate the impact of these on Europe’s genetic landscape. These data suggest genomic shifts with the advent of the Neolithic, Bronze and Iron Ages, with interleaved periods of genome stability. The earliest Neolithic context genome shows a European hunter-gatherer genetic signature and a restricted ancestral population size, suggesting direct contact between cultures after the arrival of the first farmers into Europe. The latest, Iron Age, sample reveals an eastern genomic influence concordant with introduced Steppe burial rites. We observe transition towards lighter pigmentation and surprisingly, no Neolithic presence of lactase persistence.
To investigate European population history around the time of the agricultural transition, we sequenced complete genomes from a ~7,500 year old early farmer from the Linearbandkeramik (LBK) culture from Stuttgart in Germany and an ~8,000 year old hunter-gatherer from the Loschbour rock shelter in Luxembourg. We also generated data from seven ~8,000 year old hunter-gatherers from Motala in Sweden. We compared these genomes and published ancient DNA to new data from 2,196 samples from 185 diverse populations to show that at least three ancestral groups contributed to present-day Europeans. The first are Ancient North Eurasians (ANE), who are more closely related to Upper Paleolithic Siberians than to any present-day population. The second are West European Hunter-Gatherers (WHG), related to the Loschbour individual, who contributed to all Europeans but not to Near Easterners. The third are Early European Farmers (EEF), related to the Stuttgart individual, who were mainly of Near Eastern origin but also harbored WHG-related ancestry. We model the deep relationships of these populations and show that about ~44% of the ancestry of EEF derived from a basal Eurasian lineage that split prior to the separation of other non-Africans.(bold mine.)
Analysis of ancient DNA can reveal historical events that are difficult to discern through study of present-day individuals. To investigate European population history around the time of the agricultural transition, we sequenced complete genomes from a ~7,500 year old early farmer from the Linearbandkeramik (LBK) culture from Stuttgart in Germany and an ~8,000 year old hunter-gatherer from the Loschbour rock shelter in Luxembourg. We also generated data from seven ~8,000 year old hunter-gatherers from Motala in Sweden. We compared these genomes and published ancient DNA to new data from 2,196 samples from 185 diverse populations to show that at least three ancestral groups contributed to present-day Europeans. The first are Ancient North Eurasians (ANE), who are more closely related to Upper Paleolithic Siberians than to any present-day population. The second are West European Hunter-Gatherers (WHG), related to the Loschbour individual, who contributed to all Europeans but not to Near Easterners. The third are Early European Farmers (EEF), related to the Stuttgart individual, who were mainly of Near Eastern origin but also harbored WHG-related ancestry. We model the deep relationships of these populations and show that about ~44% of the ancestry of EEF derived from a basal Eurasian lineage that split prior to the separation of other non-Africans.
To test for human population substructure and to investigate human population history we have analysed Y-chromosome diversity using seven microsatellites (Y-STRs) and ten binary markers (Y-SNPs) in samples from eight regionally distributed populations from Poland (n = 913) and 11 from Germany (n = 1,215). Based on data from both Y-chromosome marker systems, which we found to be highly correlated (r = 0.96), and using spatial analysis of the molecular variance (SAMOVA), we revealed statistically significant support for two groups of populations: (1) all Polish populations and (2) all German populations. … The same population differentiation was detected using Monmonier’s algorithm, with a resulting genetic border between Poland and Germany that closely resembles the course of the political border between both countries. The observed genetic differentiation was mainly, but not exclusively, due to the frequency distribution of two Y-SNP haplogroups and their associated Y-STR haplotypes: R1a1*, most frequent in Poland, and R1*(xR1a1), most frequent in Germany. We suggest here that the pronounced population differentiation between the two geographically neighbouring countries, Poland and Germany, is the consequence of very recent events in human population history, namely the forced human resettlement of many millions of Germans and Poles during and, especially, shortly after World War II. …
British population history has been shaped by a series of immigrations, including the early Anglo-Saxon migrations after 400 CE. … Here, we present whole-genome sequences from 10 individuals excavated close to Cambridge in the East of England, ranging from the late Iron Age to the middle Anglo-Saxon period. … we estimate that on average the contemporary East English population derives 38% of its ancestry from Anglo-Saxon migrations. … Using rarecoal we find that the Anglo-Saxon samples are closely related to modern Dutch and Danish populations, while the Iron Age samples share ancestors with multiple Northern European populations including Britain.