Category Archives: human evolution

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]


  • 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


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


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]


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]


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.

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]


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”.

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


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]

Neanderthals, Denisovans and everything else

A recent analysis of the nuclear DNA of a Neanderthal toe from Altai has caused widespread interest.
Kay Prüffer et al., The complete genome sequence of a Neanderthal from the Altai Mountains. Nature 2013. Pay per viewLINK [doi:10.1038/nature12886]
The story of a finger and a toe
Both the Denisovan and Neanderthal DNA sequences discussed in this paper come from small bones found at the same location: Denisova cave, Altai Republic. The Denisovan sequence that revolutionized human paleogenetics a few years ago corresponds to a finger phalanx bone of some 50,000 years ago. The less notorious Neanderthal sequence discussed in this study corresponds to a toe imal phalanx, which was found in a lower layer in the same gallery of the same cave, and hence should be older.
This is very interesting to underscore because it seems to imply that Neanderthals were in Altai and specifically in Denisova cave very early, at dates similar to those we find in West Asia (Tabun excepted) and they may even be older than Denisovans in the very cave that gave them their name.
The toe sequence was found in a previous study to have Neanderthal mtDNA, closely related to the lineages of European Neanderthals of various dates and sites. Instead the finger mtDNA (Denisovan) was derived from a more ancient branch of humankind than the very point of split between Neanderthals and modern humans (H. sapiens) and has been recently shown to be related to European H. heidelbergensis from Atapuerca
Notes in red are mine.
This study focuses on the autosomal DNA of both Neanderthals and Denisovans. Unlike mtDNA, whose phylogenetic position is simple and quite straightforward, autosomal or nuclear DNA (nDNA) is extremely much more complex to understand because of its recombining nature, requiring of statistical approaches, which may get extremely complex and potentially subject to premise biases. When comparing two individuals this gets largely simplified but it is a lot more complex when doing the same with larger samples.
And that is precisely what this study does: comparing one Denisovan, several Neanderthals and also several modern humans. Therefore it is a very complex paper and the authors necessarily assume some evaluation risks, which nevertheless are discussed in depth in the supplemental material, a methodology of the Pääbo team that we can’t but greatly appreciate.
Age estimates
The study makes two age estimates, one based on a very conservative and truly unbelievable Pan-Homo split date of 6.5 Ma BP and the other based on observed per generation mutation rates, which happens to be perfectly coincident with a Pan-Homo split of 13 Ma BP, the oldest extreme of Langergraber’s estimate. This coincidence alone is of enough relevance for all molecular clock approaches, because it effectively demands the doubling of all age estimates based on the ridiculously short 6.5 Ma Pan-Homo split supposition. 
Red outlines are mine. Click to enlarge.
It also produces a semi-reasonable San-West African age estimate of c. 86-130 Ka, although I would think it a bit older in fact or at the very least at the top end. This highlights the severe difficulties of such molecular clock estimates, because a 4 Ma divergence between the alleged introgressing mystery archaic in the Denisovan genome, seems out of the question according on the archaeological and paleontological record, which only documents Homo species since c. 2 Ma ago, half that time (within the estimate but clearly very far from the top end).
Altai Neanderthal inbreeding
An important finding of this study is that the studied individual was extremely inbred, with parents in effective relationship comparable to that of grandparent and grandchild or half siblings. This inbreeding tendency, even if extreme, is not so strange in populations that have experienced founder effect bottlenecks and small population sizes. The Denisovan and the modern human Karitiana people are not so extreme but range in the lower end of double first cousins level of genetic relationship between the parents. Other Native Americans like the Mixe are close to that range, while the other compared populations, Papuans and Sardinians, show much lower levels of inbreeding.
Whatever we may think of Altai Neanderthal inbreeding, their drift parameter is still very low when compared with European Neanderthals. This is not discussed in the paper but such extreme drift also seems to imply extreme inbreeding issues in European Neanderthals, even if these may have other causes such as an extremely strong founder effect or whatever.
Bonobo-specific segments were removed, so the bonobo position is not realistic.
Inferred population history
Both populations leading to the Altai Neanderthal and Denisovans, but not modern humans, appear to have gone through a strong decline in population size since hundreds of millennia ago. The Denisovan decline seems to begin c. 800 Ka ago while the Neanderthal one may have begun c. 500 Ka ago. While this is coincident with a general expansion of the H. sapiens branch (still undifferentiated in Africa), peaking around c. 250 Ka ago before differentiation and relative decline. In their words:

All genomes analysed show evidence of a reduction in population size that occurred sometime before 1.0 million years ago. Subsequently, the population ancestral to present-day humans increased in size,whereas the Altai and Denisovan ancestral populations decreased further in size. It is thus clear that the demographic histories of both archaic populations differ substantially from that of present-day humans.

Neanderthal and Denisovan admixture in modern humans

The new tests confirm in essence the previous findings: there is significant Neanderthal introgression in modern humans descending from the migrants out of Africa and there is also significant Denisovan one among Australasian populations.

Additionally and with some caution, the authors think that much lesser Denisovan introgression (of around 0.2%) is found among East Asians and that these, as well as Native Americans, show slightly more Neanderthal admixture than West Eurasians. In my understanding this may be caused by minor African flow to West Eurasia after the admixture event (and/or residual “First Arabian” persistence) and I would think that measuring South Asians would help to clarify this issue (because African admixture is negligible in the subcontinent but they are also distinct from East Asians).

These measurements are so weak that the authors agree to all kind of cautions about them in any case.

In addition to all this, the supplemental material (section 13) also detects tiny, almost homeopathic, amounts of Neanderthal gene flow to Yorubas (~0.02%), obviously mediated by H. sapiens backflow from Asia and Europe into parts of Africa, which eventually influenced other African populations. An even more diluted amount may also be present among the Mbuti Pygmies.

Altai Neanderthal admixture in Denisovans

This issue is not really explained in the paper as such, and we have to reach out to the Supplemental Information chapter 15 in order to grasp it.

It is clear that the Altai Neanderthals are closer to Denisovans than other Neanderthals are by approx. the following fractions (directly deduced from the raw affinities listed in fig. S6a.2):

  • 2% more than Mezhmaiskaya
  • 7% more than Vindija (avg.)
  • 9% more than El Sidrón
Feldhofer appears closer instead but this sequence was not used by the authors in most tests because it has too dubious quality.

In section 15 of the supplementary material, using complex methodology and lamenting the lack of a second Denisovan sample which would be most useful, they estimate a minimal 0.5% (Altai) Neanderthal introgression in Denisovans, with strong warnings that this could well be quite higher. I don’t know why they are not even considering a more direct approach, but I would dare to guesstimate the introgression to be close to 8% from the above raw data, assuming that there are no further complexities at play, such as other Heidelbergensis introgression in European Neanderthals, etc. The drift parameter (see above) does not seem to be one such complexity because Mezhmaiskaya is almost as drifted as Vindija yet it is consistently much closer, as it seems to correspond to its specific relatedness to Altai Neanderthals in mtDNA (and possibly also in nDNA if it is admixture what causes their pseudo-tree positioning closer to the root, what would be typical).

Note in blue is mine.

Mystery archaic genetic flow into Denisovans

The authors find that some 0.5-8% of the Denisovan genome appears to come from another hominin, which split from the human trunk even earlier.

We caution that these analyses make several simplifying assumptions. Despite these limitations, we show that the Denisova genome harbors a component that derives from a population that lived before the separation of Neanderthals, Denisovans and modern humans. This component may be present due to gene flow, or to a more complex population history such as ancient population structure maintaining a larger proportion of ancestral alleles in the ancestors of Denisovans over hundreds of thousands of years.

Later in the discussion section they ponder further the implications of this finding:

The evidence suggestive of gene flow into Denisovans from an unknown hominin is interesting. The estimated age of 0.9 to 4 million years for the population split of this unknown hominin from the modern human lineage is compatible with a model where this unknown hominin contributed its mtDNA to Denisovans since the Denisovan mtDNA diverged from the mtDNA of the other hominins about 0.7–1.3 million years ago41. The estimated population split time is also compatible with the possibility that this unknown hominin was what is known from the fossil record as Homo erectus. This group started to spread out of Africa around 1.8 million years ago42, but Asian and African H. erectus populations may have become finally separated only about one million years ago43. However, further work is necessary to establish if and how this gene flow event occurred.

Going to the detail of the matter (i.e. supplemental material sections 16a and 16b), one of the key details is that present-day Africans share more derived alleles with Neanderthals than with Denisovans. This can only be explained because Denisovans have other archaic ancestry prior to their apparent divergence from Neanderthals or (what is about the same) because Denisovans diverged themselves prior to the Neanderthal-Sapiens split, what is what the mtDNA (unlike the nDNA) suggests. However the difference, even if consistent across comparisons, is too small (a few percentage points) to be attributed to the later scenario.

This means that Denisovans appear to be at nDNA level some sort of an independent branch of proto-Neanderthals with some other but minor archaic admixture. Instead at mtDNA level they appear to be unrelated to Neanderthals and related instead to H. heidelbergensis (a detail not discussed in this paper because it is a too recent independent discovery).

There are still many details to explore but, in principle, it would seem that the Denisovan branch appears to be a divergent proto-Neanderthal one (maybe related to the Hathnora hominin, which looks very much Neanderthal) with lesser other archaic (H. heidelbergensis?) admixture, which nevertheless remained prominent in their mtDNA for whatever accidental reason.

Whether the H. heidelbergensis population of Atapuerca responds to this same profile (i.e. they were Denisovans too) or belongs instead to the “other archaic” population which introgressed in the Denisovan genome remains to be solved. So far we only know the mitochondrial lineage and this one may be misleading, as seems to be the case with the Denisova hominin.

Note in red is mine

Modern human genetic evolution

Benefiting from the high quality of the archaic genomes of Altai, the authors cataloged a long list of simple mutations exclusive to our species: 31,389 single nucleotide substitutions and 4,113 short insertions and deletions (indels). Additionally they found other 105,757 substitutions and 3,900 indels shared by 90% of their modern human sample of 1094 individuals.

They suggest some lines for future research in this regard, maybe focusing on genes known to influence brain development or regions that could show signs of positive selection. These preliminary lines of research are explored in SI-20, noticing potential selection in genes that affect the ventricular zone of the brain and cell proliferation in fetal brain development.


The Denisovans were not alone

H. heidelbergensis from Atapuerca
Cranium 5 “Miguelón”
(CC by José Manuel Benito)
About half an hour ago, somewhat cryptic comments in this blog and my email woke me up, more abruptly than I would have desired maybe, to a new game-breaking finding: researchers have sequenced the mtDNA of a 400,000 years old Homo heidelbergensis from Atapuerca (Iberian Peninsula, Europe) and it was not at all like most would have expected.
Mathhias Mayer et al., A mitochondrial genome sequence of a hominin from Sima de los Huesos. Nature 2013. Pay per viewLINK [doi:10.1038/nature12788]


Excavations of a complex of caves in the Sierra de Atapuerca in northern Spain have unearthed hominin fossils that range in age from the early Pleistocene to the Holocene1. One of these sites, the ‘Sima de los Huesos’ (‘pit of bones’), has yielded the world’s largest assemblage of Middle Pleistocene hominin fossils2, 3, consisting of at least 28 individuals4 dated to over 300,000 years ago5. The skeletal remains share a number of morphological features with fossils classified as Homo heidelbergensis and also display distinct Neanderthal-derived traits6, 7, 8. Here we determine an almost complete mitochondrial genome sequence of a hominin from Sima de los Huesos and show that it is closely related to the lineage leading to mitochondrial genomes of Denisovans9, 10, an eastern Eurasian sister group to Neanderthals. Our results pave the way for DNA research on hominins from the Middle Pleistocene.

The key figure is this one, which phylogenetically relates the newly sequenced mtDNA with the known Homo ones:

Figure 4: Bayesian phylogenetic tree of hominin mitochondrial relationships based on the Sima de los Huesos mtDNA sequence determined using the inclusive filtering criteria.
All nodes connecting the denoted hominin groups are supported with posterior probability of 1. The tree was rooted using chimpanzee and bonobo mtDNA genomes. The scale bar denotes substitutions per site.

It has been argued by all sides (myself included) that the H. heidelbergensis of Atapuerca and other European locations are ancestral to Neanderthals. Some say that also to H. sapiens, while others argue that ours is a wholly distinct line, derived from H. rhodesiensis, and yet others claim that H. rhodesiensis is not different from H. heidelbergensis in spite of being older and rooted, it seems, in South Africa.
The clear evidence for migrations out of Africa, before our species, is limited to two periods: (1) the c. 1.8 Ma old migration of H. erectus/georgicus with Olduwayan technology (mode 1, “choppers”), and (2) the c. 1 Ma old migration of H. ergaster/antecessor (sometimes also confusingly called H. erectus) with Acheulean technology (mode 2, typically “hand axes”). Archaeological evidence for later migrations does not exist.
See: Late human evolution maps at Leherensuge.
So we could well ask, if H. heidelbergensis is not ancestral to Neanderthals, then where do Neanderthals come from?
It must be answered that we do not know yet if H. heidelbergensis is or not ancestral to Neanderthals or in what degree it is. The mitochodrial (maternal) lineage may well be misleading in this sense. Denisovans themselves were much more related to Neanderthals via autosomal (nuclear) DNA than the mtDNA, so it may also be the case with European Heidelbergensis.
In fact it is still possible that these individuals represent some sort of admixture between older and newer layers of human expansion. But there is no clear answer yet. What is clear is that no Neanderthals have these mitochondrial sequences but others closer to those of H. sapiens – and this is the most puzzling part in fact. 
But one thing is clear: the World is much bigger than just Europe, and that was also the case back in Paleolithic times. Our answer may well lay under the sands of some tropical desert, the waters of the sea or whatever other place in Asia or Africa.
Even if we’d find the “missing link”, so to say, we might not be able to discern it as such without genetic sequencing and that is often not even possible at all. However this pioneer research, as well as its precursors on a bear also from Atapuerca and a 700,000 years old horse (the true record of ancient DNA recovery), give us some hope of getting an improved, even if sometimes perplexing, understanding of the complexity of the human adventure.