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Author Archives: Maju

Mitochondrial lineages from Myanmar

Myanmar, also known as Burma, has been one of those blind spots in the mapping of human genetics. Finally now we get to know something about the peoples of this SE Asian multiethnic state, although there are limitations because the sampling was performed among refugees in Thailand.
Monica Summerer et al., Large-scale mitochondrial DNA analysis in Southeast Asia reveals evolutionary effects of cultural isolation in the multi-ethnic population of Myanmar. BMC Evolutionary Biology 2014. Open accessLINK [doi:10.1186/1471-2148-14-17]

Abstract


Background


Myanmar is the largest country in mainland Southeast Asia with a population of 55 million people subdivided into more than 100 ethnic groups. Ruled by changing kingdoms and dynasties and lying on the trade route between India and China, Myanmar was influenced by numerous cultures. Since its independence from British occupation, tensions between the ruling Bamar and ethnic minorities increased.


Results


Our aim was to search for genetic footprints of Myanmar’s geographic, historic and sociocultural characteristics and to contribute to the picture of human colonization by describing and dating of new mitochondrial DNA (mtDNA) haplogroups. Therefore, we sequenced the mtDNA control region of 327 unrelated donors and the complete mitochondrial genome of 44 selected individuals according to highest quality standards.


Conclusion


Phylogenetic analyses of the entire mtDNA genomes uncovered eight new haplogroups and three unclassified basal M-lineages. The multi-ethnic population and the complex history of Myanmar were reflected in its mtDNA heterogeneity. Population genetic analyses of Burmese control region sequences combined with population data from neighboring countries revealed that the Myanmar haplogroup distribution showed a typical Southeast Asian pattern, but also Northeast Asian and Indian influences. The population structure of the extraordinarily diverse Bamar differed from that of the Karen people who displayed signs of genetic isolation. Migration analyses indicated a considerable genetic exchange with an overall positive migration balance from Myanmar to neighboring countries. Age estimates of the newly described haplogroups point to the existence of evolutionary windows where climatic and cultural changes gave rise to mitochondrial haplogroup diversification in Asia.

The main sampled ethnic group are the Karen, who live at the border with Thailand, but the Bamar or Burmans, the largest ethnic group, were also sampled in big numbers. 
Fig. 2.- Origin of samples and mitochondrial haplogroup distribution of Southeast Asian populations. Although most of the study participants originated from Karen State (red), a broad
sample spectrum from nearly all divisions and states of Myanmar (a) was included in this study. b shows the haplogroup distributions of populations from Myanmar and four other Southeast
Asian regions. In the white insert box the haplogroup heterogeneity of two ethnic
groups of Myanmar is illustrated. The hatched area in the map surrounding the border
between Myanmar and Thailand shows the main population area of the Karen people. The
Bamar represent the largest ethnic group (68%) in Myanmar. The size of the pie diagrams
corresponds to sample size.
The smaller samples are only detailed in the supplementary data for what I have seen, so I will not discuss them right now (maybe in an update?). 
Overall all SE Asians including the Southern Han from Hong-Kong appear similar in broad terms. Excepted Laos, this relative similitude is quite apparent in figure 3:
Fig. 3.- Multi-dimensional scaling plot of pairwise Fst-values and haplogroup distribution
of populations from Myanmar and 12 other Asian regions.
A distinct geographic pattern appeared in the multi-dimensional scaling plot (Stress = 0.086;
R2 = 0.970) of pairwise Fst-values: The Myanmar sample fitted very well within the Southeast
Asian cluster, the Central Asian populations formed a second cluster, the Korean sample
represented East Asia, the Afghanistan population was representative for South Asia
and Russia symbolized Western Eurasia. The main haplogroup distributions are displayed
as pie charts. The size of the pie diagrams corresponds to sample size. The proportion
of N-lineages (without A,B and R9’F) increases from very low percentages in Southeast
and East Asia over 50% in Central Asia to more than 75% in Afghanistan and 100% in
the sample of Russian origin. The proportion of the American founding haplogroups
A,B,C and D displayed an interesting pattern: from inexistent in Russians it increased
to more than 50% in East Asian Korea.
Looking at the particular differences in haplogroup frequencies, I’d say that the Thai are quite unremarkable, while the other populations show some peculiarities:
  • Karen: higher frequencies of R9/F, A, C and G
  • Bamar: much higher M* (and extremely diverse)
  • Laotian: higher frequencies of B and M7
  • Vietnamese: more B and N*
  • South Han (Hong-Kong): more D
It is very notable the high diversity of paragroup M* among the Bamar. The authors notice that not more than three individuals shared each different subhaplogroup, what points to a very high diversity within haplogroup M. I don’t have time right now to ponder the various lineages, some of which are newly described, but I probably will in the future, because, together with the high diversity in NE India, they have the potential of shifting the paradigm of Asian colonization by H. sapiens a bit towards the East.
The various M* and other novel haplogroups described in Myanmar is shown in fig. 4. Haplogroups M90 and M91 are new basal M sublineages, along with three other unnamed private lineages, which also appear as basal. Also M20a, M49a and G2b1a are new sublineages further downstream. Within N/R, another newly described lineage is B6a1.
The Bamar are extremely diverse not just within M*:

… the haplogroup composition of Bamar
was exceptionally diverse with 80 different haplogroups and a maximum of 6 samples
in the same haplogroup (Figure 4).

On the other hand, the Karen show the signs of genetic isolation instead, with large concentrations in the same haplogroups.
Interestingly, the authors think that rather than being a receiver, Myanmar was a major source of population to its neighbors:

Migration analyses of Myanmar and four Southeast Asian regions displayed a vivid exchange
of genetic material between the countries and demonstrated a strong outwards migration
of Myanmar to all analyzed neighboring regions (for details see Additional file 4: Table S4).

This influence is most intense to Laos, Thailand and South China, while things are more balanced regarding Vietnam instead.
 

Planning area of the brain "specifically human".

That’s what a new paper claims, based in scan comparison with macaques.
Franz-Xaver Neubert, Comparison of Human Ventral Frontal Cortex Areas for Cognitive Control and Language with Areas in Monkey Frontal Cortex. Neuron 2014. Pay per viewLINK [doi:10.1016/j.neuron.2013.11.012]

Highlights

  • Fundamental similarities in human and monkey cognitive control and language areas
  • Monkey areas resemble human cognitive control and language areas
  • These areas differ in how they connect to areas in the temporal cortex
  • Identification of a unique to humans area in the human lateral frontal pole


Summary

Human ventrolateral frontal cortex (vlFC) is identified with cognitive processes such as language and cognitive flexibility. The relationship between it and the vlFC of other primates has therefore been the subject of particular speculation. We used a combination of structural and functional neuroimaging methods to identify key components of human vlFC. We compared how vlFC areas interacted with other brain areas in 25 humans and 25 macaques using the same methods. We identified a core set of 11 vlFC components that interacted in similar ways with similar distributed circuits in both species and, in addition, one distinctively human component in ventrolateral frontal pole. Fundamental differences in interactions with posterior auditory association areas in the two species were also present—these were ubiquitous throughout posterior human vlFC but channeled to different frontal regions in monkeys. Finally, there were some differences in interregional interactions within vlFC in the two species.

The vlFC is marked in red
According to the lead author:

This area has been identified with strategic planning and decision making as well as “multi-tasking”.

So, I would say, this implies that we are human, psychologically speaking, mostly because of our planning capacity and related decision-making discernment? Multi-tasking may also be important because it implies the ability of partly or totally stopping an activity, according to priorities, and yet retake it at a later moment, what seems intimately related to planning and decision-making.

It would be most interesting to find out how it works in other intelligent animals such as many cetaceans, elephants or non-human great apes. Macaques are very intelligent anyhow but, from an evolutionary viewpoint, I wonder if other species are more similar to us in this aspect or even have developed their own alternative psycho-architectures with similar results.

 
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Posted by on February 6, 2014 in human evolution, mind, psychology

 

Medieval Germans, Hungarians and the spread of lactose tolerance

A new ancient DNA study found that 800 years ago in Dalheim (Western Germany) lactase persistence was already similar to modern day frequencies (h/t to Chad):
Annina Krüttli et al., Ancient DNA Analysis Reveals High Frequency of European Lactase Persistence Allele (T-13910) in Medieval Central Europe. PLoS ONE 2014. Open accessLINK 
[doi: 10.1371/journal.pone.0086251]

Abstract


Ruminant milk and dairy products are important food resources in many European, African, and Middle Eastern societies. These regions are also associated with derived genetic variants for lactase persistence. In mammals, lactase, the enzyme that hydrolyzes the milk sugar lactose, is normally down-regulated after weaning, but at least five human populations around the world have independently evolved mutations regulating the expression of the lactase-phlorizin-hydrolase gene. These mutations result in a dominant lactase persistence phenotype and continued lactase tolerance in adulthood. A single nucleotide polymorphism (SNP) at C/T-13910 is responsible for most lactase persistence in European populations, but when and where the T-13910 polymorphism originated and the evolutionary processes by which it rose to high frequency in Europe have been the subject of strong debate. A history of dairying is presumed to be a prerequisite, but archaeological evidence is lacking. In this study, DNA was extracted from the dentine of 36 individuals excavated at a medieval cemetery in Dalheim, Germany. Eighteen individuals were successfully genotyped for the C/T-13910 SNP by molecular cloning and sequencing, of which 13 (72%) exhibited a European lactase persistence genotype: 44% CT, 28% TT. Previous ancient DNA-based studies found that lactase persistence genotypes fall below detection levels in most regions of Neolithic Europe. Our research shows that by AD 1200, lactase persistence frequency had risen to over 70% in this community in western Central Europe. Given that lactase persistence genotype frequency in present-day Germany and Austria is estimated at 71–80%, our results suggest that genetic lactase persistence likely reached modern levels before the historic population declines associated with the Black Death, thus excluding plague-associated evolutionary forces in the rise of lactase persistence in this region. This new evidence sheds light on the dynamic evolutionary history of the European lactase persistence trait and its global cultural implications.

Table 2. Results of genetic sex and LP allele genotyping.

So lactase persistence was already highly prevalent in West-Central Germany 800 years ago, much as it is today.
Very interesting also is their mention of a previous study in Medieval Hungarians (Nagy 2011, PPV):

A study of medieval Hungary found moderate levels of LP in local
commoners (33%) ca. AD 900–1100, but extrapolating from these results is
complicated by the region’s history of conquest by lactase
non-persistent Asian invaders.

While these frequencies are clearly much higher than Neolithic ones (zero), they were still much lower than present day (c. 60%). 
They also mention the oldest know lactase persistence alleles in Europe, which correspond to Chalcolithic findings in Götland and the Basque Country, albeit still at low frequencies and, in the Basque case, showing strong linkage disequilibrium pointing to an initial admixture episode between two different populations: one lactose-tolerant and the other intolerant. See this previous entry for more details.
As I see it, these two data points help us to better understand the still very wide window when lactose tolerance spread among Europeans, which begins in the Chalcolithic and, at least in the case of Germany, seems closed by the Middle Ages. Although in the Hungarian case remained still half-way in that period. 
It is quite possible that instead of a single selective swap affecting this trait, the process took place in several bouts, each one with their own geography and timeline. 
Still, the reasons behind this apparent positive selection for milk-digesting genes, remain ill-explained at academic level. Recently I tried to articulate a consistent theory on it, based on the fact that the Metal Ages, when this sweep happened almost certainly, were characterized by the accumulation of agricultural resources, wealth and power in few hands, producing a class-structured society in which the vast majority were poor and lived precarious lives, in which the general availability of, particularly, goat milk may have been an important nutritional relief (calories and proteins). See: Is the ability to digest milk in Europeans caused by ancient social inequality?
 

More details on the Neanderthal legacy in modern humans

Is straight hair Neanderthal?

A quick note on two recent studies on the relevance of Neanderthal introgression on modern Humankind, notably the “out of Africa” branch.

Sriran Sankararaman et al., The genomic landscape of Neanderthal ancestry in present-day humans. Nature 2014. Pay per viewLINK [doi:doi:10.1038/nature12961]

Abstract


Genomic studies have shown that Neanderthals interbred with modern humans, and that non-Africans today are the products of this mixture1, 2. The antiquity of Neanderthal gene flow into modern humans means that genomic regions that derive from Neanderthals in any one human today are usually less than a hundred kilobases in size. However, Neanderthal haplotypes are also distinctive enough that several studies have been able to detect Neanderthal ancestry at specific loci1, 3, 4, 5, 6, 7, 8. We systematically infer Neanderthal haplotypes in the genomes of 1,004 present-day humans9. Regions that harbour a high frequency of Neanderthal alleles are enriched for genes affecting keratin filaments, suggesting that Neanderthal alleles may have helped modern humans to adapt to non-African environments. We identify multiple Neanderthal-derived alleles that confer risk for disease, suggesting that Neanderthal alleles continue to shape human biology. An unexpected finding is that regions with reduced Neanderthal ancestry are enriched in genes, implying selection to remove genetic material derived from Neanderthals. Genes that are more highly expressed in testes than in any other tissue are especially reduced in Neanderthal ancestry, and there is an approximately fivefold reduction of Neanderthal ancestry on the X chromosome, which is known from studies of diverse species to be especially dense in male hybrid sterility genes10, 11, 12. These results suggest that part of the explanation for genomic regions of reduced Neanderthal ancestry is Neanderthal alleles that caused decreased fertility in males when moved to a modern human genetic background.

B. Bernot & J.M. Akey, Resurrecting Surviving Neandertal Lineages from Modern Human Genomes. Science 2014. Pay per viewLINK [doi:10.1126/science.1245938]

Abstract

Anatomically modern humans overlapped and mated with Neandertals such that non-African humans inherit ~1-3% of their genomes from Neandertal ancestors. We identified Neandertal lineages that persist in the DNA of modern humans, in whole-genome sequences from 379 European and 286 East Asian individuals, recovering over 15 Gb of introgressed sequence that spans ~20% of the Neandertal genome (FDR = 5%). Analyses of surviving archaic lineages suggests that there were fitness costs to hybridization, admixture occurred both before and subsequent to divergence of non-African modern humans, and Neandertals were a source of adaptive variation for loci involved in skin phenotypes. Our results provide a new avenue for paleogenomics studies, allowing substantial amounts of population-level DNA sequence information to be obtained from extinct groups even in the absence of fossilized remains.

I don’t have access to the papers (update: I do have the second one now) but, honestly, I don’t have time either, so, even with full access, I would have to be rather shallow, given the complexity of the matter.
Nevertheless I would highlight the following:
Fitness costs
Areas of dense gene presence tend to be more depleted of Neanderthal inheritance, meaning that, at least in many cases Neanderthal genes were deleterious (harmful) in the context of the H. sapiens genome. It’s probable that they worked better in their “native” context of the Neanderthal genome but we must not understimate the risks of low genetic diversity, a problem that affected Neanderthals as well as H. heidelbergensis (species probably including Denisovans or at least their non-Neanderthal ancestry).
Partial hybrid infertility
The areas of very low Neanderthal genetic influence include those of reproductive relevance, including genes affecting the testes and the chromosome X. This is typical of the hybrid infertility phenomenon, which is part of species divergence, making more difficult or even impossible that hybrids can reproduce. This particular item emphasizes that the differential speciation of Neanderthals and H. sapiens was in a quite advance stage already some 100 Ka ago, what does not seem too consistent with the lowest estimates for the divergence of both human species (H. sapiens have been diverging for some 200 Ka and are still perfectly inter-fertile). 
Adaptive Neanderthal hair introgression
On the other hand the Neanderthal genetic legacy has been best preserved in genes that appear to affect keratin (affecting skin, nails and hair). This bit I consider of particular interest because, based on the modern distribution of hair texture phenotypes, I have often speculated that straight hair may be a Neanderthal heritage and this finding seems supportive of my speculation.
It’s possible that straight hair conferred some sort of advantage in some of the new areas colonized by H. sapiens, maybe providing better insulation against rain or cold (the ancestral Sapiens thinly curly hair phenotype is probably an adaption to tropical climate, allowing for a ventilated insulation of the head).
Some 20% of the Neanderthal genome still lives in us
Collectively, that is. The actual expressed genes are probably a quite less important proportion anyhow and the actual individual Neanderthal legacy (expressing genes and junk together) seldom is greater than 3% in any case.
 

La Braña 1 carried the very rare Y-DNA haplogroup C (possibly C6-V20)

La Braña 1 without makeup
(Check for the updates below, please).

The late Epipaleolithic forager from NW Iberia (previously discussed here) had the patrilineal haplogroup C6, found so far only very rarely among modern Europeans (Scozzari 2012). This, I must say, I know by the moment only from secondary sources (Eurogenes, Dienekes and a personal communication) because I have not been able yet to put my hands on the relevant paper and this key detail is not mentioned in the abstract.

Iñigo Olalde et al., Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European. Nature 2014. Pay per viewLINK [doi:10.1038/nature12960]

freely available supplementary materials.


Abstract

Ancient genomic sequences have started to reveal the origin and the demographic impact of farmers from the Neolithic period spreading into Europe1, 2, 3. The adoption of farming, stock breeding and sedentary societies during the Neolithic may have resulted in adaptive changes in genes associated with immunity and diet4. However, the limited data available from earlier hunter-gatherers preclude an understanding of the selective processes associated with this crucial transition to agriculture in recent human evolution. Here we sequence an approximately 7,000-year-old Mesolithic skeleton discovered at the La Braña-Arintero site in León, Spain, to retrieve a complete pre-agricultural European human genome. Analysis of this genome in the context of other ancient samples suggests the existence of a common ancient genomic signature across western and central Eurasia from the Upper Paleolithic to the Mesolithic. The La Braña individual carries ancestral alleles in several skin pigmentation genes, suggesting that the light skin of modern Europeans was not yet ubiquitous in Mesolithic times. Moreover, we provide evidence that a significant number of derived, putatively adaptive variants associated with pathogen resistance in modern Europeans were already present in this hunter-gatherer.

Relevance for the overall understanding of macro-haplogroup C
Until the discovery of this C6 lineage, there were some strong reasons to suspect that Y-DNA C may have coalesced already in SE Asia or, at least, very close to it, with its subclades forming by pairs a three pointed star with geographical center in that area: C1 and C3 in NE Asia (and America), C2 and C4 in Wallacea and Australasia and C5 and some rather homogeneous C* in India.
The discovery of this C6 lineage and its confirmation as a Paleolithic one in Europe (i.e. not a “recent” arrival from somewhere else) add phylogenetic weight to the Western geography of haplogroup C, one of two main subdivisions of the main non-African Y-DNA lineage CF. However we cannot yet reach to conclusions about the “exact” origins of C because the macro-lineage still awaits improvement of its phylogenetic structure at the basal levels.
In plain language: it is quite likely that C2 and C4 form a monophyletic clade and I would not be surprised at all if C1 and C3 do the same. But then it is also possible that C5 and the Indian C* and/or the European C6 also form their own distinct branches. It is even possible that some of these lineages are related across subcontinental regions, as was recently found within MNOPS (aka K(xLT)). So we need first to know how they relate with each other a the top phylogenetic level before we can rush to any conclusion. In any case the discovery of C6 adds some preliminary weight to the hypothesis of C coalescing when still in South Asia.



Pigmentation genetics

There have been some rush to conclusions on the pigmentation of this and another Western European hunter-gatherer based only on genetics. I think that some of the conclusions are most likely incorrect, at least to some extent, because they are based on a SNP which only weights ~15% on skin coloration.

Judging on the figures (freely accessible, it seems), La Braña 1 carried two pigmentation alleles of gene SLC45A2 now rare among Europeans (but common elsewhere, i.e. the ancestral variant):

  • rs16891982, which affects hair color (7x chances of black hair among Europeans)
  • rs1426654, which affects skin pigmentation to some degree (correlated with skin color in Indians, irrelevant among modern Europeans because of fixation, weights only ~15% in Cape Verdeans’ skin coloration). 

Notice that while you can find online reconstructions that give La Braña 1 a very dark coloration, this is not necessarily the case at all but rather an oversimplistic  interpretation based only on one allele, allele that is not just dominant in West Asians and Europeans but also, for example, among Gujaratis, who are quite dark for European standards.

    It seems correct anyhow that this allele was only brought to Europe with Neolithic farmers (Stuttgart had it) but its alleged effect on pigmentation seems very much exaggerated.

    Fig. 4 from Beleza 2013 highlights that no single gene is decisive in skin pigmentation.

    It is probable anyhow that La Braña 1 had black hair.
    It is much more plausible that he had blue eyes because these are much more directly regulated by simple genetics.
    Continuity of immunity genetics
    La Braña 1 also had three immunity related alleles (derived variants) that have been retained at least to some extent by modern Europeans:
    • rs2745098 (PTX4)
    • rs11755393 (UHRF1BP1, related to lupus)
    • rs10421769 (GPATCH1)
    Comparison with global populations
    Fig. 5 (ED) offers various comparisons of La Braña 1 and Mal’ta 1 (from Siberia) with modern humans from around the World:

    Extended Data Figure 5: Pairwise outgroup f3 statistics.
    a, Sardinian versus Karitiana. b, Sardinian versus Han.
    c, La Braña 1 versus Mal’ta. d, Sardinian versus Mal’ta.
    e, La Braña 1 versus Karitiana. The solid line represents y = x.
    We can see in them that, La Braña 1 clusters well with modern Europeans, while Mal’ta instead strongly tends towards other Asians, often clustering with Pakistanis (“Central/South Asia” metapopulation).
    Maybe the most interesting graph is c, where we can see how the various populations deviate from the y=x line in the direction of La Braña (Europeans, West Asians) or Mal’ta (Native Americans particularly).
    Comparison with Neolithic samples and modern Europeans

    Extended Data Figure 4: Allele-sharing analysis.
    Each panel shows the allele-sharing of a particular Neolithic sample from refs 1 and 3 with La Braña 1 sample. The sample IDs are presented in the upper left of each panel (Ajv52, Ajv70, Ire8, Gok4 and Ötzi). In the upper right of each panel, the Pearson’s correlation coefficient is given with the associated P value.

    In all cases Swedes (SE), followed by Polish (PL), etc. share the greatest amount of alleles with La Braña 1, although I’m not sure if the differences are really that relevant (is really 69.3% significantly different from 68.7%?)
    In the vertical scale we can observe how the various populations tend more or less strongly towards various Neolithic samples (again with the same doubts about the significance of the differences). In the first row they are compared with Götland’s Pitted Ware individuals (of plausible Eastern European origins: strong cultural connections with Dniepr-Don Neolithic). Here Central Europeans show the greatest affinity with Ajv52 and Ajv70 (Basques Bulgarians also score high). There are some differences in the case of individual Ire8, whose closest modern relatives seem to be the Dutch. Swedes only score high re. Ajv52 but low to the others, while Finns score neutral-to-low relative to all them.
    The lower row compares with to mainstream Neolithic samples: Gok4 was a Megalithic farmer from SW Sweden and Ötzi was a Chalcolithic shepherd from Southern Tirol. The Swedish farmer is best approached by the Dutch, followed by various West-Central Europeans, while Basques Bulgarians, Finns and Swedes score low here. In the case of Ötzi nobody scores particularly high (some tendency in Switzerland and nearby areas), while Finns score clearly low.
    And that’s all I can say without direct access to the study. Enjoy.

    Update: I already got the paper (thanks again to the donor), I’ll see to update as need be once I have time to read it. Minor urgent edits above in red (and slashed out text).

    Update (Jan 29): The supplementary data is freely available (LINK) but I could not find it earlier. Almost all the information is in it, including a long list, much longer than mentioned above, of the SNPs found in La Braña 1, compared to various modern population frequencies. I don’t have time right now to dwell on it but I guess from a first read that I will have to amend some comments made on the issue of pigmentation above.

    Regarding the Y-DNA haplogroup, it is important to notice that its adscription withing haplogroup C seems very clear but its assignation to C6-V20 is more dubious because of the low quality of the genome. Only the V20 marker could be assigned, so the authors themselves are in doubt and wonder if it could alternatively be C* or C5, both with a South Asian affinity.

    In this sense I think it is worth noticing that the reference Y-DNA site ISOGG has recently revised the phylogeny of macro-haplogroup C and that they have already renamed C6-V20 as C1a2, making it a relative of the minor Japanese lineage earlier known as C1 (now renamed to C1a1), similarly South Asian C5-M356 has been renamed to C1b. So C1 is now perceived as a lineage that spans all Eurasia with an arguable South Asian centrality.

    Another (Papuan?) lineage once known as “C6” has long vanished from the phylogeny because of lack of plural samples, I understand.

     

    Is the ability to digest milk in Europeans caused by ancient social inequality?

    I’ve got involved these days in a discussion at Dienekes’ Anthropology Blog on the causes of lactase persistance (LP), i.e. the ability to digest milk as adults, in Europe. 
    The discussion orbits around a recent pay-per-view study by O.O. Sverrisdóttir, which claims, with some soundness for what I can discern, that LP in Europeans must have gone through positive selection. 
    Actually the study, as most of its kind, deals only with one LP marker, the well known SNP rs4988235, whose T variant allows adults (in dominant fashion) to digest milk, an ability often lost after weaning. 
    As I discussed back in 2010, there must be other such SNPs because actual LP phenotype only partly corresponds with the known LP alleles. But for whatever is worth, this is the (2010) “known allele” LP map:
    In Europe at least, it essentially corresponds with the T variant of rs49235, which concentrates in Scandinavia, Atlantic Islands and the Basque/SW French area. 
    At first I boarded the discussion with perplexity, because, even if the positive selection argument seems sound, it seems hard to find a reason for it: milk is not such a “great” source of food, excepting the issue of calcium and a high content of protein and fat, and the occasional claims that it is related to vitamin D deficiency seem extremely feeble because this vitamin is present at extremely low frequencies in natural milk, being rickets (where milk’s extra calcium could play some role) only a “less important” side effect of vitamin D deficiency, because its main harmful effect is to impair early brain development, a most serious problem for which calcium seems quite meaningless. So why would the ability to digest milk would have become such a matter of life or death to be actively selected for generation after generation until near-fixation?
    A key piece of information is that not a single sequenced Neolithic farmer has ever been found to carry the relevant LP allele (being all CC) and only since Chalcolithic we begin to find some TT and CT individuals. These are found in Sweden and in the southern areas of the Basque Country (see here for a lengthier discussion):
    • In Götland (Pitted Ware culture) only 1/20 alleles was T (i.e. 1/10
      persons had the CT combo, all the rest being CC and therefore likely
      lactose intolerants). 
    • In Longar (Navarre, dated to c. 4500 BP)
      1/7 individuals was TT, while the other six were CC (intolerant). There
      were no CT cases.
    • In San Juan Ante Porta Latinam (SJAPL, Araba, dated to c. 5000 BP), 4/19 were TT, 2/19 were CT, while the remaining 13 were CC.
    In the Basque cases we can appreciate that there must have already been two different populations regarding this SNP, because the CT cases are rare, implying that the two groups were only beginning to mix. It is worth mentioning that the Basque sites are odd in several aspects: on one side they seem to be military cemeteries (mostly males, arrow injuries and arrow points) and, on the other, they are rather exceptional in the Basque historical sequence of mtDNA pools (a lot more K and some other lineages than usual, less H and U).
    But a key finding in this study is that a Neolithic sequence from Atapuerca (near Burgos city, historical Basque SW border) was again CC for the relevant SNP (and therefore likely lactose intolerant). So it is very possible that proto-Basques did not have the T allele in notable frequencies either (although I keep some reservations for lack of larger samples).
    Whatever the case, if the T allele was selected positively as it seems, there must be a powerful reason for it. Was it cows, as some have claimed a bit too vehemently? I doubt it. 
    Why? Because for all we know from the Middle Ages, a period very similar in many aspects to the Metal Ages, it were goats and not cows the main providers of milk. This makes total sense because the hardy goats are rather inexpensive to rear, while cows are more costly and were often reserved for traction jobs. In most cases, cow produce, be it milk or meat, was an expensive luxury apt only for the upper echelons of a society that was becoming more and more hierarchical and unequal since precisely the Chalcolithic period. 
    Some oral accounts I have heard tell that not so long ago “acorn bread and goat milk” were often staple for the poor. In other areas maybe it was not acorn bread but, say, oat meal (or whatever else), but almost certainly the milk came almost invariably from goat udders, which very efficiently transform leaves and almost any vegetable, even thorny ones, into milk (and meat) for our consumption.
    It is crucial to understand that only if milk was a key survival staple, LP would have become fixated. Otherwise people would have preferred alternative foods and survived in similar shape, so positive selection would never have happened at this locus (non-LP individuals would have survived easily, selection would never have happened or would have been mild enough to retain much greater diversity). 
    It is also crucial to understand that, for all we know, this positive selection only happened since the Chalcolithic, i.e. when social stratification, inequality and private aristocratic property became common. Obviously the upper classes (or castes) had no problems accessing high quality foods, including meat, but the masses probably had growing problems in this aspect as the land and cattle became more and more concentrated in few hands. 
    Even where a wide class of free peasants existed, as was probably the case in much of Atlantic Europe, these were surely often not well-off enough to afford dairy cows. Instead goats would have been available for almost everybody, even the poorest of farmers. And very likely they were the only steady supply of proteins and fat, mostly via milk.
    Plausibly this need of extra nutrients of animal origin was more intense in the Atlantic areas of Europe because cereals do not perform so well in the prevalent humid conditions. Also before the medieval development of the heavy plough, the deep Atlantic soils were not at all as productive as they are now (and that’s why NW Europe only got its economic prominence in the last millennium, being before a peripheral area to the much more productive Mediterranean climate). 
    But climatic and agricultural issues aside, I strongly suspect that the main driver of LP positive selection, were goats, because these and their dairy produce were almost certainly available for almost everyone and, in the Metal Ages, the vast majority of people were farmers, often rather poor peasants who had to rely on their goats for survival, very especially in the bad times.
    I really do not see any other explanation that fits the data.

    PS- This social inequality & goats argument makes sense assuming that the positive selection theory is correct. However before I fully embrace it, I would need a half-decent sample of aDNA sequences from the Atlantic areas of Europe, notably Britain & Ireland, the Basque Country & SW France and mainland Scandinavia, where the T allele peaks. I say because what we find in some Chalcolithic sites, notably in the Basque Country, rather strongly suggests that there was already a TT population somewhere and we have not yet found it. So maybe some of the premises of the positive selection theory are not as sound as I said above – but we do not know yet.

     

    Human Y chromosome undergoes purifying selection

    A somewhat technical yet interesting study on Y chromosome evolution in humans:

    Melissa A. Wilson Sayres et al., Natural Selection Reduced Diversity on Human Y Chromosomes. PLoS ONE 2014. Open accessLINK [doi:10.1371/journal.pgen.1004064]

    Abstract


    The human Y chromosome exhibits surprisingly low levels of genetic diversity. This could result from neutral processes if the effective population size of males is reduced relative to females due to a higher variance in the number of offspring from males than from females. Alternatively, selection acting on new mutations, and affecting linked neutral sites, could reduce variability on the Y chromosome. Here, using genome-wide analyses of X, Y, autosomal and mitochondrial DNA, in combination with extensive population genetic simulations, we show that low observed Y chromosome variability is not consistent with a purely neutral model. Instead, we show that models of purifying selection are consistent with observed Y diversity. Further, the number of sites estimated to be under purifying selection greatly exceeds the number of Y-linked coding sites, suggesting the importance of the highly repetitive ampliconic regions. While we show that purifying selection removing deleterious mutations can explain the low diversity on the Y chromosome, we cannot exclude the possibility that positive selection acting on beneficial mutations could have also reduced diversity in linked neutral regions, and may have contributed to lowering human Y chromosome diversity. Because the functional significance of the ampliconic regions is poorly understood, our findings should motivate future research in this area.

    Positive selection (or directional selection) happens when a variant gets so good that everything else becomes bad by comparison. This may be just because an environmental change, possibly caused by migration (or whatever other reason) substantially alters the rules of the game. Much more rarely a novel mutation (or accumulation of several of them) may happen to generate a phenotype that is much more fit even for pre-existent conditions. As I understand it, positive selection does happen only rarely (but spectacularly). An example in humans is the selection of whiter skin shades in latitudes far away from the tropics (because of the “photosynthesis” of vitamin D in the skin, crucial for early brain development), another more generalized one is the selection for improved brains (not necessarily just bigger), able to face changing conditions more dynamically and develop more efficient tools and weapons.
    Purifying selection (or negative selection) is quite different and surely much more common. As novel mutations arise randomly, in at least many cases, the vast majority I dare say, they happen to be harmful for a previously well-tuned genotype (and its derived phenotype). As result, the carriers have decreased opportunities for reproduction, when they don’t just die right away. Natural selection acts mostly this way and in many cases the types can become very stable for this reason, as happens with genera that have been successful on this planet since long before humankind arose, such as sharks or crocodiles.
    This last is what seems to be happening to the human Y chromosome: novel mutations are at least quite often harmful (maybe they cause sterility or whatever other traits in the male that cause decreased reproductive efficiency) and they are regularly pruned off the tree by natural selection. 

    Purifying selection slows down the effective mutation rate

    Interestingly the authors mention that:

    … if purifying selection is the dominant force on the Y chromosome, the topology of the tree should remain intact, but the coalescent times are expected to be reduced.

    That would be, I understand, because the observed mutation rate has little relation with the actual accumulated (effective) mutation rate, which is much slower because of the continuous pruning of the negative selection.
    Purifying selection has also been observed in the mitochondrial DNA, having the same kind of slowing impact on the “molecular clock”.
     
    6 Comments

    Posted by on January 26, 2014 in evolution, human evolution, molecular clock, Y-DNA

     

    Andalusian mtDNA highlights W-E differences

    The issue of W-E genetic differences in Iberia has been discussed before in this blog by guest author Argiedude on the grounds of Y-DNA, showing that roughly the Western third of Iberia is distinct from the rest, most notably because of its higher presence of North African lineage E1b-M81. However the differences also appear in the mtDNA, even if they may be a bit more subtle because they cross with a N-S gradient of sorts.
    A new study focused on the matrilineages of two characteristic Andalusian provinces, Granada in the East and Huelva in the West, underscores that this difference is very real.
    Candela L. Hernández et al., Human maternal heritage in Andalusia (Spain): its composition reveals high internal complexity and distinctive influences of mtDNA haplogroups U6 and L in the western and eastern side of region. BMC Genetics 2014. Open accessLINK [doi:10.1186/1471-2156-15-11]

    Abstract (provisional)


    Background


    The archeology and history of the ancient Mediterranean have shown that this sea has been a permeable obstacle to human migration. Multiple cultural exchanges around the Mediterranean have taken place with presumably population admixtures. A gravitational territory of those migrations has been the Iberian Peninsula. Here we present a comprehensive analysis of the maternal gene pool, by means of control region sequencing and PCR-RFLP typing, of autochthonous Andalusians originating from the coastal provinces of Huelva and Granada, located respectively in the west and the east of the region.


    Results


    The mtDNA haplogroup composition of these two southern Spanish populations has revealed a wide spectrum of haplogroups from different geographical origins. The registered frequencies of Eurasian markers, together with the high incidence and diversification of African maternal lineages (15% of the total mitochondrial variability) among Huelva Andalusians when compared to its eastwards relatives of Granada and other Iberian populations, constitute relevant findings unknown up-to-date on the characteristics of mtDNA within Andalusia that testifies a female population substructure. Therefore, Andalusia must not be considered a single, unique population.


    Conclusions


    The maternal legacy among Andalusians reflects distinctive local histories, pointing out the role of the westernmost territory of Peninsular Spain as a noticeable recipient of multiple and diverse human migrations. The obtained results underline the necessity of further research on genetic relationships in both sides of the western Mediterranean, using carefully collected samples from autochthonous individuals. Many studies have focused on recent North African gene flow towards Iberia, yet scientific attention should be now directed to thoroughly study the introduction of European genes in northwest Africa across the sea, in order to determine its magnitude, timescale and methods, and to compare them to those terrestrial movements from eastern Africa and southwestern Asia. 

    Naturally the most noteworthy data is the frequency of mtDNA haplogroups in the two sampled populations:

    A map comparing this data with some other areas of Iberia (mostly the West) is also provided:

    Figure 3 – mtDNA haplogroup profiles registered in some populations of the Iberian Peninsula. The two Andalusian subpopulations studied here are marked with a red arrow. Codes are as in Additional file 3.
    What makes Onubenses (the inhabitants of Huelva, ancient Onuba, West Andalusia) peculiar in relation to their Granadino neighbors is their lower frequency of H (notably H*, H3 and H5), along with their higher frequencies of K1, U3a and several North African related haplogroups (U6, L1b and L2). The peculiarities of Granadinos (notably the high H5 frequency) are not so notable in comparison.
    Some of these Onubense peculiarities are reproduced in other parts of West Iberia, notably the low frequencies of H (but not at all in the NW corner), the presence of U6 (notably in North Portugal and also, not shown here, among the Maragatos of the León-Galicia border area) and to some extent the elevated frequency of K and some L(xM,N) lineages (varied localized frequencies).
    Much of this seems best explained by ancient flows from NW Africa (flows which may be Neolithic, Paleolithic or from the Metal Ages but hardly related to Phoenician or Muslim colonization, which had no W-E gradient whatsoever) but I have some qualms about the quick identification by the authors of the origins of Onubense high K1 in that area. At the very least it must be noticed that, unlike the other African markers, K1 is much more common towards the Eastern parts of NW Africa and is also found at similarly high frequencies in many parts of Europe, such as France and Central Europe.
    K1 was first spotted in Iberian ancient DNA in the early Neolithic (Los Cascajos, Navarre), and was an important Neolithic lineage through Europe. While I can’t discard the North African suggested origin, I think that other possibilities are at least as likely.
    On U6, the presence of the very rare U6c, one of two basal lineages of U6, only found previously in 5 Moroccans, 10 Canarians and in one Italian, reinforces the idea of U6 expanding from West to East (against what most conclusions suggest on the most unclear grounds) with a most likely Moroccan origin. In turn this raises the question on how pre-U6 arrived to Morocco, especially as the Aurignacoid Dabban industries now seem to never have gone further West than Cyrenaica, opening the possibility of this lineage having arrived to NW Africa via Europe, where we know that U in general was common in the Upper Paleolithic, and which clearly influenced North Africa at the Oranian (aka Iberomaurusian) cultural genesis (LGM) via Morocco (Taforalt and other sites).
    On the L(xM,N) lineages, it is worth mentioning that Cerezo 2012 claimed that some of them may be pre-Neolithic in Europe, especially L1b1a variants, which are widespread at low frequencies through Europe with an Iberian centrality.
    The overall picture is maybe best visualized by the Hierarchical Cluster Analysis:

    Figure 5 – Hierarchical Cluster Analysis (HCA) of 53 populations based on their mtDNAdiversity. The haplogroups used here are marked with arrows (vectors). Populations are indicated with numbers as in Additional file 3.
    Cluster 1 is particularly noticeable for its high frequency of mtDNA H, being composed by mostly Iberian samples (along with South Germans and some Sicilians). Granada, as well as nearby Córdoba, sit here (even if with a tendency towards the more mainstream European Cluster 2). Huelva is not too remarkable when compared with other European samples in the mtDNA HCA, although it does show some deviation towards NW Africa, clustering closest to Canarians.
    In spite of the good frequency of North African samples, it must be noted that the horizontal axis, in essence contrasting Europe vs. West Asia, has a weight of almost 50%, while the vertical axis, contrasting these two vs. North Africans (and the Sámi) only weights 13% (axis are almost never of the same relevance in PCA-like graphs, even if they are presented as such).
    In synthesis: NW Africa had some minor but significant genetic influence in the West Iberian third, long before the Muslim period, and this mtDNA study ratifies these distinctions in the particular case of Andalusia, adding some rich detail of data.
    Also, as the authors underline in their discussion, the issue of European genetic influence in North Africa still requires some serious investigation.
     
     

    First ever bronze was smelt in the Balcans

    It seems that West Asia is losing a bit of its relevance as the origin of nearly every development. Much as the first steel is now known to have been made in Central Africa several centuries before the Hittites (or not: see update below), the first bronze (“tin bronze” to be specific) seems now to have been made in the Balcanic peninsula, more than a thousand years before it was in Mesopotamia.
    Miljana Radivojevíc et al. Tainted ores and the rise of tin bronzes in Eurasia, c. 6500 years ago. Antiquity 87 (2013). Freely accessibleLINK

    Abstract

    The earliest tin bronze artefacts in Eurasia are generally believed to have appeared in the Near East in the early third millennium BC. Here we present tin bronze artefacts that occur far from the Near East, and in a significantly earlier period. Excavations at Plocnik, a Vinca culture site in Serbia, recovered a piece of tin bronze foil from an occupation layer dated to the mid fifth millennium BC. The discovery prompted a reassessment of 14 insufficiently contextualised early tin bronze artefacts from the Balkans. They too were found to derive from the smelting of copper-tin ores. These tin bronzes extend the record of bronze making by c. 1500 years, and challenge the conventional narrative of Eurasian metallurgical development.

    The specific well-dated finding is from Plocnik, Southern Serbia, however as we can see in the map below, most 5th millenium bronze sites are from Bulgaria.

    This highlights the likely central role in this earliest bronze metallurgy of the Karanovo-Gumelnita culture (very likely a full-fledged state older than dynastic Egypt), which spanned most of Bulgaria, as well as some nearby regions by the south and the north. However the neighbor cultures of Gradesnica-Krivodol (NW Bulgaria and nearby Romanian areas) and Vinca (Serbia) were also involved.
    The highest quality alloys (stannite bronzes) belong to this core area of Thrace (Karanovo, Smjadovo and Bereketska Mogila), as well as Southern Serbian sites (Plocnic and Lazareva) while a second category, “high tin fahlore”, seems to concentrate along the Danube (Gomolava and Ruse). A “low tin fahlore” category is rarer and seems centered in the Gradesnica area.
    For some reason, maybe the disruptive Indoeuropean invasions of the 4th millennium, this technology was apparently lost later on, only to be regained from a West Asian source (Troy) already in the 3rd millennium.
    An interesting question is the source of tin, which was in many cases the mineral stannite. The authors suggests further research on isotopes but also consider ancient mines that could have been sources:

    Stannite is present in the Bronze Age mines of Mushiston in Tajikistan (Weisgerber & Cierny 2002), Deh Hosein in Iran (Nezafati et al. 2006), the Bolkardăg mining district in Turkey (Yener & ̈Ozbal 1987), as well as in Iberia (Rovira & Montero 2003).

    The West and Central Asian mines are often argued not to have been sizable enough to be a major source of tin in the Bronze Age proper but, considering that this is a very early and limited bout of advanced metallurgy, I guess that they are also possible sources.

    Update (Jan 22): I must (partly) take back my initial comment on steel metallurgy being older in Niger than Turkey: while the discovery of Nigerien steel-making c. 1500 BCE stands, other recent findings in Turkey seem to push back steel metallurgy in Anatolia to c. 1800 BCE (instead of the c. 1300 BCE date accepted before). Thanks to Aeolius for making us aware of this important detail.

    Note: thanks to the Stone Pages newsletter ArcheoNews for directing me to this most interesting study.

     
     

    Ancient Italian ape had human-like precission grip

    Reconstruction of O. bamboli (Pavel Major / ICP)
    Oreopithecus bamboli was primate species, surely a hominine (great ape excluding orangutans) that lived in Tuscany and Sardinia some 8.2-6.7 million years ago.
    It has great interest regarding human evolution because it is the oldest known ape to have developed a pad-to-pad precision grip, a characteristic otherwise only found in the human genus.
    This trait, hotly debated in the last decades, has been recently confirmed by researchers of the Catalan Institute of Paleontology Miquel Crusafont (ICP). It must be said however that this development is considered convergent evolution and not ancestral to our own precision grip.
    O. bamboli fossil
    (CC by Ghedoghedo)
    I guess that much of the controversy is caused by the old hypothesis that argued that it was the precision grip itself which elicited human brain development, something that obviously did not happen with Oreopithecus.
    Other traits of this species are quite different from our own or our australopithecine relatives. They probably walked upright but with different gait (unlike the more human-like Sahelanthropus, of similar age) and their feet were very much unlike ours, with a very open angle for the big toe (hallux).
    It seems that their environment was swampy and not strictly forestal.
    Sources[es/cat/en]: Pileta, Diari de Girona, Wikipedia.
    Ref.: Sergio Almécija et al., The morphology of Oreopithecus bambolii pollical distal phalanx. AJPA 2014. Pay per viewLINK [doi:10.1002/ajpa.22458]