2,500-year old Etruscans

From a Biology of Genomes poster (pdf) on "Assessment of Whole-Genome capture methodologies on single- and double-stranded ancient DNA libraries from Caribbean and European archaeological human remains" by Ávila-Arcos et al.

All that can be said based on this is that they seem broadly southern European and not particularly Tuscan.

Italic "Eteocretan" Sea peoples?

Stranger things have happened...

TALANTA XL-XLI (2008-2009), 151-172

AN ‘ETEOCRETAN’ INSCRIPTION FROM PRAISOS AND THE HOMELAND OF THE SEA PEOPLES

Luuk de Ligt

The whereabouts of the homeland or homelands of the so-called Sea Peoples have been endlessly debated. This article re-examines this problem by looking at one of the ‘Eteocretan’ inscriptions from the town of Praisos. It is argued that this text is written in an Indo-European language belonging to the OscanUmbrian branch of the Italic language family. Based on this finding it is suggested that this language must have arrived in eastern Crete during the Late Bronze Age, when Mycenaean rulers recruited groups of mercenaries from Sicily, Sardinia and various parts of the Italian peninsula. When the Mycenaean state system collapsed around 1200 BC, some of these groups moved to the northern Aegean, to Cyprus and to the coastal districts of the Levant. It is also suggested that this reconstruction explains the presence of an Etruscan-speaking community in sixth-century-BC Lemnos. An interesting corollary of this theory is that the Sea Peoples were present in the Mycenaean world some considerable time before its collapse in the early twelfth century

Link (pdf)

Etruscans (maybe) not from Anatolia

There have been a few papers on the topic of Etruscan origins that argue in favor or against the Anatolian origin hypothesis. Two main lines of evidence exist on the topic: discontinuity between Etruscans and modern Tuscans (except some isolates); (perceived) similarity between Etrsucans' mtDNA and that of modern-day Turks.

Personally, I am not convinced either way, because I don't find it likely that a sample of modern-day Turks has much to tell us about the prehistoric relatives of the Etruscans. After all, modern-day Turks are descended from a a few dozen ancient Anatolian ethne plus a few extra-Anatolian influences from both west and east (and perhaps north and south) plus Central Asian Turkic influence minus Christian populations. We see evidence of genetic discontinuity in places with much simpler histories than Anatolia, so to claim that modern Turks have much of anything to tell us about Iron Age Etruscans is a not-so-believable proposition.

A similar complaint is that the specificity of the Etruscan gene pool can only be established by looking at their geographical neighbors. If Etruscans were intrusive to Italy, then, presumably, they would have retained differences from the surrounding Anatolian peoples.

A third (and perhaps more subtle) caveat is that "Etruscan" is polysemous. To the archaeologist and historian, it might mean a specific culture known from its remains and the texts of Romans and Greeks with which this culture interacted. To the linguist it might mean the language spoken by this culture when it attained literacy. To the geneticist it might mean the gene pool of individuals identified by archaeologists as "Etruscan".

These categories are not necessarily congruent. My favorite example is that of "Bulgarians" or "Croats", peoples who bear the name of a Turkic and Iranic people respectively, even though today they are geographically, culturally, and linguistically completely divorced from these antecedents. Or, the more controversial example of "Romans" themselves, whose nation spoke in historical times Latin, but whose histories preserved a memory of diverse origins, including, critically, an Anatolian genealogy for their eponymous ancestor.

So, the tale of Herodotus might be true (or false) on different levels. It might turn out that Etruscans did, in fact, form an isle of ancient west Anatolian genetics in Italy. Or, it might turn out that -as in the case of the Bulgarians- both language and genes are mostly native Italian, but the founding of the Etruscan nation can still be attributed to an extraneous influence. Or, perhaps Herodotus was 100% wrong, and Tyrrhenus never sailed to Italy.

Of course, I don't expect ancient DNA from all over Italy and all over Anatolia to materialize overnight, so studies such as this do help us constrain the space of possible solutions to the problem, i.e., a model with (i) substantial female participation in Etruscan colonization, (ii) genetic continuity in Anatolia to present-day Turks, and (iii) substantial contribution of Anatolian colonists to Etruscan gene pool may be falsified. But, assumptions (i-iii) describe only a small part of the space of models consistent with the Herodotean narrative.

Am J Phys Anthropol DOI: 10.1002/ajpa.22319

Genetic evidence does not support an etruscan origin in Anatolia

Francesca Tassi et al.

The debate on the origins of Etruscans, documented in central Italy between the eighth century BC and the first century AD, dates back to antiquity. Herodotus described them as a group of immigrants from Lydia, in Western Anatolia, whereas for Dionysius of Halicarnassus they were an indigenous population. Dionysius' view is shared by most modern archeologists, but the observation of similarities between the (modern) mitochondrial DNAs (mtDNAs) of Turks and Tuscans was interpreted as supporting an Anatolian origin of the Etruscans. However, ancient DNA evidence shows that only some isolates, and not the bulk of the modern Tuscan population, are genetically related to the Etruscans. In this study, we tested alternative models of Etruscan origins by Approximate Bayesian Computation methods, comparing levels of genetic diversity in the mtDNAs of modern and ancient populations with those obtained by millions of computer simulations. The results show that the observed genetic similarities between modern Tuscans and Anatolians cannot be attributed to an immigration wave from the East leading to the onset of the Etruscan culture in Italy. Genetic links between Tuscany and Anatolia do exist, but date back to a remote stage of prehistory, possibly but not necessarily to the spread of farmers during the Neolithic period.

Link

Etruscan mtDNA origins (Ghirotto et al. 2013)

From the paper:

A model of genealogical continuity across 2,500 years thus proved to best fit the observed data for Volterra, and especially Casentino, but not for another community dwelling in an area also rich with Etruscan archaeological remains (Murlo), nor (as expected) for the bulk of the current Tuscan population, here represented by a forensic sample of the inhabitants of Florence.

and:

As for the second question, the IM analysis shows that indeed there might have been a genealogical link between modern Tuscans and the inhabitants of what Herodotus considered the Etruscans’ homeland, Western Anatolia. However, even under the unrealistic assumption of complete reciprocal isolation for millennia, the likely separation of the Tuscan and Anatolian gene pools must be placed long before the onset of the Etruscan culture, at least in Neolithic times; if isolation was incomplete, the estimated separation must be placed further back in time. Consistent with this view is the observation that Etruscan and Neolithic mtDNAs are close to each other in the two-dimensional plot of Figure S4C; however, a formal test would be necessary to draw firm conclusions from the simple observation of a genetic similarity. Separation times were very close when estimated both using a sample from Western Anatolia, and an expanded sample including individuals from much of Anatolia, and so the choice of the Anatolian population does not seem to affect the results of this analysis.

As always with estimates in years, the choice of mutation rate may affect results, but I am reasonably confident that this particular result does not depend on such issues. From the paper:

For these tests we chose the mutation rate (μ) estimated from the data in the previous ABC analyses (very close to the figure accounting for the time-dependency of the mitochondrial molecular clock [13], μ = 0.003). Tests were also run using the value incorporating a correction for the effects of purifying selection [23] (μ = 0.0014), always finding that it results in a further increase of the estimated separation times (Figure S7B). Only assuming very high mutation rates, at least twice as large as estimated in Henn et al. [13], was it possible to obtain separation times less than 5,000 years (Figure S7B). With both Anatolian samples, any degree of gene flow after separation between the ancestors of Tuscans and Anatolians resulted in more remote separation times.

A couple of observations:

If Etruscans did originate in Anatolia then presumably the historical Etruscans were not descended entirely from them but from a mixture of pre-Etruscans with the incoming population. So, it would seem that the inferred dates are incompatible with a folk migration model of Etruscan origins, but not necessarily with a model that accommodates admixture (e.g., initial mtDNA gene pool separation c. 8,000 years ago with the onset of the Neolithic + later admixture during the Bronze Age). On the other hand, the close similarity between Etruscan and Central European Neolithic mtDNA is a good argument for (mostly) continuity in this case.

That things did happen in Italy in the last 5,000 years can be inferred on the basis of the Iceman's genome. It will certainly be interesting to extract Y chromosomes and/or autosomal DNA from some of these Etruscan samples.

A different issue that may bias dates upwards is the occurrence of East Eurasian mtDNA in current Anatolian Turks. It is not clear by how much this would affect age estimates (this admixture is low, sub-10%, but from a population that split off from West Eurasians perhaps more than 40kya); it would nonetheless be useful to repeat the experiment after either (i) purging the Anatolian sample of lineages likely to have introgressed into the population in medieval times, or (ii) using a different West Asian sample other than that of Anatolian Turks.

In any case, it's great to finally have the genetic characterization of a historical European people, and hopefully more samples will follow both from Italy (at least from those who practiced inhumation) and elsewhere.

PLoS ONE 8(2): e55519. doi:10.1371/journal.pone.0055519

Origins and Evolution of the Etruscans’ mtDNA

Silvia Ghirotto et al.

The Etruscan culture is documented in Central Italy (current Tuscany and Northern Latium, formerly known as Etruria) between the 8th and the 1st century BC. Questions about the Etruscans’ origins and fate have been around for millennia. Herodotus and Livy regarded them as immigrants, respectively from Lydia, i.e. Western Anatolia, or from North of the Alps, whereas for Dionysius of Halicarnassus they were an autochthonous population [1]. Previous DNA studies, far from settling the issue, have raised further questions. The Etruscans’ mitochondrial DNAs (mtDNAs) appear similar, but seldom identical, to those currently observed in Tuscany [2], [3]. Assuming reasonable effects of genetic drift and mutation, these levels of resemblance proved incompatible with the notion that modern Tuscans are descended from Etruscan ancestors [4], [5]. Explanations for this result include the (extreme) possibility that the Etruscans became extinct, but also that their modern descendants are few and geographically dispersed, or that the ancient sample studied represents a small social elite rather than the entire population [4]. As for the Etruscans’ origins, ancient DNA is of little use, because pre-Etruscan dwellers of Central Italy, of the Villanovan culture, cremated their dead [1], and hence their genetic features are unknown. DNAs from modern humans and cattle in Tuscany show affinities with Near Eastern DNAs, which was interpreted as supporting Herodotus’ narrative [2], [6], but in these studies modern Tuscans were assumed to be descended from Etruscan ancestors, in contrast with ancient DNA evidence [5]. The claim that systematic errors in the Etruscan DNA sequences led to flawed genealogical inference [2], [7] is not supported by careful reanalysis of the data [8].

Link

SMBE 2012 abstracts (part I)

Some abstracts of interest from SMBE 2012. Part II will follow.

Reconstructing demographic histories from long tracts of DNA sequence identity 

Kelley Harris 1 , Rasmus Nielsen 1,2 1 UC Berkeley, Berkeley, CA, USA,  2 University of Copenhagen, Copenhagen, Denmark 
There has been recent excitement and debate about the details of human demographic history, involving gene flow that  has occurred between populations as well as the extent and timing of bottlenecks and periods of population growth.  Much of the debate concerns the timing of past admixture events; for example, whether Neanderthals exchanged  genetic material with the ancestors of non-Africans before before or after they left Africa. Here, we present a method for  using sequence data to jointly estimate the timing and magnitude of past genetic exchanges, along with population  divergence times and changes in effective population size. To achieve this, we look at the length distribution of regions  that are shared identical by state (IBS) and maximize an analytic composite likelihood that we derive from the  sequentially Markov coalescent (SMC). Recent gene flow between populations leaves behind long tracts of identity by  descent (IBD), and these tracts give our method its power by influencing the distribution of shared IBS tracts. However,  since IBS tracts are directly observable, we do not need to infer the precise locations of IBD tracts. In this way, we can  accurately estimate admixture times for relatively ancient events where admixture mapping is not possible, and in  simulated data we show excellent power to characterize admixture pulses that occurred 100 to several hundred  generations ago. When we study the IBS tracts shared between and within the populations sequenced by the 1000  Genomes consortium, we find evidence that there was no significant gene flow between Europeans and Asians within  the past few hundred generations. It also looks unlikely that the Yorubans of Nigeria interbred with Europeans or Asians  in a population-specific way, though there may have been admixture between Africans and an ancestral non-African  population. 

Which way did they go? Detecting directional migration from genetic data

Benjamin Peter, Montgomery Slatkin University of California, Berkeley, Berkeley, USA  

Range expansions and colonizations are ubiquitous in many species and are studied from many different perspectives in e.g. anthropology, biogeography and invasion biology. It has been well established that these colonization events lead to a loss of genetic diversity and that in many cases it is possible to infer the history of a species' range from present-day genetic data. Previous approaches were mainly based on within-population measures of diversity such as heterozygosity, which then have been compared between populations. However, it is also well established that these statistics are susceptible to confounding demographic factors such as unequal subpopulation sizes or population size changes. In this study, we propose a novel method using data from multiple populations to infer a population's history. Our approach is based on a statistic that detects asymmetries in the 2D-allele frequency spectrum that occur when one population consists mostly of offspring of another population, as we expect in an expanding population. We show that our statistic is able to detect the direction of an expansion using data from multiple populations. Using simulations, we further show that our statistic is generally more powerful than previous approaches and that it is robust to a wide array of confounding demographic factors. We further illustrate the use of our statistic on several data sets for humans, Drosophila and Neurospora and show that we are both able to detect global patterns of colonization and fine-scale population structure.

Populations genetics of the Neolithic transition

Joachim Burger 1 , Mark Thomas 2,3 1  

Johannes Gutenberg University, Institute of Anthropology, D-55128 Mainz, Germany,  2 Research Department of  Genetics, Evolution and Environment, University College London, Wolfson House, 4 Stephenson Way, London NW1  2HE, UK,  3 Department of Evolutionary Biology, Evolutionary Biology Centre, Uppsala University, Norbyvagen 18D, SE- 752 36 Uppsala, Sweden     

About 11,000 years ago, a change in human lifestyle took place in the territories of present-day western Iran, the Levant  region and south-east Anatolia, which is characterised particularly by four factors: the people founded permanent  settlements with buildings for various functions; plants such as Einkorn and beans were cultivated; goats, sheep, pigs  and cattle were domesticated; a new kind of culture evolved, that became conspicuous with the appearance of a new  material culture including ground stone tools and later, pottery products. The transition from the partly nomadic huntergatherer subsistence strategy to a settled lifestyle based on food production is also known as the “Neolithic Revolution”.  About 8,500 years ago, the Neolithic culture spread to the southeast of Europe and later expanded episodically across  central and northern Europe. The extent to which this movement of a farming culture was accompanied by a movement  of people, as opposed to just a spread of ideas and skills, has been a subject of considerable debate and dispute  over  the last 100 years. Population genetic computer simulations of genetic data from ancient human remains, based on  coalescent theory have shown that the early Neolithic farmers could not have been descended just from the later  hunter-gatherers of central Europe (Bramanti et al. 2009). As the hunter-gatherers had already been settled in Central  Europe since the retreat of the glaciers 20 kya, Neolithic famers must have migrated into this area.   

There is good evidence of cultural contact between hunter-gatherers and early farmers in central Europe. Whether the  exchange of hunting tools also led also to the exchange of men is still not clear, as Y-chromosomal DNA has not yet  been studied systematically in ancient human remains. Moreover, ancient DNA evidence is now emerging that other  regions don/t follow the patterns of population discontinuity observed in Central Europe. While the overall results  support a model of demic diffusion of farmers from southeastern Europe, or even further East, in to Central Europe, it is  very likely that modern populations in most parts of Europe were formed by varying degrees of admixture between  incoming farmers and indigenous hunter-gatherers. Analyses of the appropriate neutral and phenotypically informative  markers using next generation sequencing technologies will provide more information on this in the near future. 

Population genetic properties of time serial data with examples from ancient population-genomic data 

Mattias Jakobsson Uppsala University, Uppsala, Sweden  

Extracting genetic information from ancient material has for long been hampered by numerous difficulties since its first  steps some two decades ago, but in the last few years, many of these problems have been solved and the use of  ancient DNA (aDNA) is now beginning to show its full potential. We will likely see a wealth of genomic data from ancient  populations, but the statistical properties of time-structured genetic samples are considerably less explored than  population genetic patterns arising from spatial structure. Using simulations, we explore and highlight features of  temporal structure and spatial structure, such as an 'isolation-by-time' effect that is similar to isolation-by-distance.  Using model- and simulation-based approaches, we can now make novel inferences about demographic and  evolutionary questions from time serial data. We will discuss examples from the long standing debate about the  introduction of farming in Europe and question about archaic ancestry in East Asia using paleogenomic data.  

Inferences on dog domestication - genetic analysis of the most ancient dogs utilizing DNA capture arrays

Olaf Thalmann 1,2 , Daniel Greenfield 2 , Matthias Meyer 3 , Susanna Sawyer 3 , Pin Cui 3 , Mietje Germonpre 4 , Mikhail V.  Sablin 5 , Francesc Lopez-Giraldez 9 , Daniel LePont 1 , Brian Worthington 10 , Jeff P. Blick 6 , Jeniffer A. Leonard 7 , Richard E.  Green 8 , Robert K. Wayne 2 1 University of Turku, Turku, Finland,  2 University of California, Los Angeles, USA,  3 Max Planck Institute for Evolutionary  Anthropology, Leipzig, Germany,  4 Royal Belgian Institute of Natural Sciences, Brussels, Belgium,  5 Zoological Institute  RAS, Saint-Petersburg, Russia,  6 Georgia College & State University, Milledgeville, USA,  7 Estacion Biologica de  Donana- CSIC, Seville, Spain,  8 University of California, Santa Cruz, USA,  9 Yale University, New Haven, USA, 10 Southeastern Archaeological Research, Inc., Newberry, USA 

The geographical and temporal origin of the dog is controversial. Genetic data suggest a domestication event in Asia or  the Middle East about 15,000 - 30,000 years ago, whereas the oldest dog-like fossils are found in Europe dating to over  30 thousand years ago. We genetically analyzed the remains of 14 prehistoric wolves and dogs including some of the  oldest dog remains described from the New and Old World. Utilizing array based DNA capture techniques coupled with  Illumina double indexed sequencing, we targeted a total of ~750,000 nucleotides in each of the ancient canids and  additional 20 contemporary wolves from North America and Eurasia. The sequence information comprised the complete  mitochondrial genome, 3,000 SNPs previously identified as highly informative for differentiating dogs from wolves,  exonic sequences from 62 potential domestication genes and ~150,000 nucleotides of non-coding regions spread  throughout the genome.   Initial analyses reveal that we have successfully captured and sequenced the complete mitochondrial genome with high  coverage as wells as a substantial number of autosomal fragments from ten prehistoric canids and all contemporary  wolves. Phylogenetic analysis combining the complete mitochondrial genomes of the prehistoric canids with those of a  large collection of modern dogs and wolves result in a statistically well supported tree. While some haplotypes cluster  within modern dogs or wolves, others show a basal placement in the phylogeny. The latter finding might support a  previous notion that an aberrant lineage of dog-like canids might have existed throughout the northern hemisphere  during the late Pleistocene and became globally extinct during the last 20,000 years. We will test this hypothesis by  investigating the autosomal loci and employ sophisticated phylogenetic analyses, demographic modeling and selection  scans to better understand the influence of early human society and artificial selection on the canine genome.

Admixed human genomes reveal complex demographic patterns from early modern humans to the  contemporary era 

Simon Gravel 1 , Jeffrey M Kidd 2 , Jake K Byrnes 1 , Andres Moreno Estrada 1 , Fouad Zakharia 1 , Shaila Musharoff 1 ,  Francisco M De La Vega 1 , Carlos D Bustamante 1 1 Stanford University, Stanford, CA, USA,  2 University of Michigan, Ann Arbor, MI, USA     

A substantial proportion of humans are "admixed", in the sense that their recent ancestors belong to statistically distinct  groups. This needs to be accounted for if unbiased inference and associations are to be performed. We present a  diversity of methods for the analysis of whole-genome sequence data from admixed individuals, and apply them to 50  genomes sequenced by Complete Genomics, including 4 Mexican-Americans, 4 African-Americans and 2 individuals  from Puerto Rico, together with SNP genotype data from hundreds of additional samples.     

Many methods have been presented recently to infer the population of origin of specific loci along the genomes of  admixed individuals, leading to inferred mosaics of ancestry.  We first propose a simple Markov model that relates the  time-dependent migration history to the inferred patterns of local ancestry. We use this framework to infer the timing of  admixture and to differentiate between punctual and continuous models of migration: using demographic models that  are consistent with both historical records and genetic data, we find evidence for continuous migration patterns in both  Mexican and African-American populations.     

We also propose models to study the longer-term evolution of the ancestral populations, by considering the allele  frequency distribution, pairwise TMRCA's, and a simple extension of the recently introduced Pairwise Sequentially  Markovian Coalescent approach for demographic inference. The inferred source population demographic histories are  in broad agreement with previous results for European and West-African populations, and the inferred demography for  the Native source population closely follows the European one until about 20,000 years ago. Taken together, whole  genome sequencing and local ancestry assignment therefore permit inferences about long-term histories of unsampled  ancestral populations and highlights recent historical demographic processes that altered patterns of variation observed  in admixed populations. 

A genomewide map of Neandertal ancestry in modern humans

Sriram Sankararaman 1,2 , Nick Patterson 2 , Swapan Mallick 1,2 , Svante Paabo 3 , David Reich 1,2 1 Harvard Medical School, Boston, USA, 2 Broad Institute of Harvard and MIT, Cambridge, USA, 3 Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany 

Analysis of the genomes of archaic hominins, such as Neandertals and Denisovans, has revealed that these groups have contributed to the genetic variation of modern human populations. Yet, we know little about how these ancient mixtures have shaped the genetic structure of human populations and even less about their impact on human evolution. To answer these questions systematically, we need a map of archaic ancestry i.e., a map that labels whether each region of an individual genome is descended from these archaics.

Building such a map is technically challenging because of the antiquity of these gene flow events. We have identified signatures based on patterns of variation at single SNPs as well as haplotypes that are informative of ancient gene flow.

We propose a principled method based on the statistical framework of Conditional Random Fields (CRFs) that integrates these patterns leading to highly accurate predictions. We applied our method to polymorphism data in European and East Asian individuals from the 1000 genomes project, in conjunction with the draft sequence of the Neandertal genome, to obtain the first genomewide map of Neandertal ancestry. Analysis of this map reveals several findings:

1. We identify around 35,000 Neandertal-derived alleles in Europeans and 21,000 in East Asians.

2. The map allows us to identify Neandertal alleles that have been the target of selection since introgression. We identified over 100 regions in which the frequency of Neandertal ancestry is extremely unlikely under a model of neutral evolution. The highest frequency region on chromosome 4 has a frequency of Neandertal ancestry of about 85% in Europe and overlaps CLOCK, a key gene in Circadian function in mammals. The high frequency, Neandertal-derived variant is specific to Europeans; it is not very common in East Asians. This gene has been found in other selection scans in Eurasian populations, but has never before been linked to Neandertal gene flow.

3. Several of the Neandertal-derived alleles identified in 1) above are found in the >6,000 SNPs associated with common diseases listed in the NHGRI catalog. These Neandertal derived variants are found to be risk variants associated with obesity and protective variants against breast cancer.

4. We also investigate the possibility of using this map to reconstruct the genome of the introgressing Neandertal. Using the ancestries in Europe and East Asia, we can reconstruct about 600 Mb which we expect to increase with larger samples and additional populations.

Origins and evolution of the Etruscans’ DNA

Silvia Ghirotto 1 , Francesca Tassi 1 , Erica Fumagalli 2,1 , Vincenza Colonna 3,1 , Anna Sandionigi 4 , Martina Lari 4 , Stefania Vai 4 , Emmanuele Petiti 4 , Giorgio Corti 5 , Ermanno Rizzi 5 , Gianluca De Bellis 5 , David Caramelli 4 , Guido Barbujani 1 1 Department of Biology and Evolution, University of Ferrara, Ferrara, Italy, 2 Department of Biotechnologies and BiosciencesUniversity of Milano-Bicocca, Milano, Italy, 3 Institute of Genetics e Biophysics "Adriano Buzzati-Traverso", National Research Council, Napoli, Italy, 4 Department of Evolutionary Biology, University of Firenze, Firenze, Italy, 5 Institute for Biomedical Technologies (ITB), National Research Council (CNR), Milano, Italy

The Etruscan culture is documented in Etruria, Central Italy, from the 7 th to the 1 st century BC. For more than 2,000 years there has been disagreement on the Etruscans’ biological origins, whether local or in Anatolia. Genetic affinities with both Tuscan and Anatolian populations have been reported, but so far all attempts have failed to fit the Etruscans’ and modern populations in the same genealogy. We extracted and typed mitochondrial DNA of 14 individuals buried in two Etruscan necropoleis, analyzing them along with other Etruscan and Medieval samples, and 4,910 contemporary individuals. Comparing ancient and modern diversity with the results of millions of computer simulations, we show that the Etruscans can be considered ancestral, with a high degree of confidence, to the modern inhabitants of two communities, Casentino and Volterra, but not to most contemporary populations dwelling in the former Etruscan homeland. We also estimate that the genetic links between Tuscany and Anatolia date back to at least 5,000 years ago, strongly suggesting that the Etruscan culture developed locally, without a significant contribution of recent Anatolian immigrants.

Human population genomics in time and space: paleogenomics of populations in Bulgaria

Meredith L. Carpenter 1 , Hannes Schroeder 2 , Nikola Theodossiev 3 , M. Thomas P. Gilbert 2 , Carlos D. Bustamante 1 1 Department of Genetics, Stanford University, Stanford, CA, USA, 2 Centre for Geogenetics, University of Copenhagen, Copenhagen, Denmark, 3 Department of Archaeology, Sofia University, Sofia, Bulgaria

With a few exceptions, most ancient human DNA studies to date have restricted their analysis to the mitochondrial DNA (mtDNA) and Y chromosome. These approaches have led to some interesting theories regarding the spread of human populations; however, they are inherently limited by their use of these two non-recombining markers, which are subject to forces such as genetic drift and natural selection and also represent only the histories of the female and male lines, respectively, from which they descend. Recently, the whole genomes of several ancient individuals have been sequenced. These genomes yielded much more information about the individuals’ ancestry than their mtDNA alone; nevertheless, a single ancient individual is not sufficient for population genetic analyses. Thus, the goal of our study is to sequence the genomes of multiple ancient individuals from the same population. This type of study has the potential to dramatically improve our ability to address demographic questions about ancient human populations. We have begun the low-coverage sequencing of genomic DNA from the teeth of 16 individuals from different time periods (1500 BC-400 BC) in Bulgaria, and we plan to ultimately extend the study to at least 50 ancient Bulgarian individuals from the Neolithic to the Iron Age (6300 BC-400 BC). The results of these initial experiments will be presented, including the identification of mtDNA haplogroups and initial population genetic analyses. Ultimately, we plan to analyze whole-genome sequence variation in these individuals and to compare it to variation present in modern populations. This will be the first systematic population-level study of ancient human genomes and therefore will allow us address demographic questions that have previously been restricted to the realm of theoretical modeling using extant populations.

Horse domestication: a computer simulation approach

Michela Leonardi 1 , Christine Weber 1 , Norbert Benecke 2 , Mark G. Thomas 3,4 , Joachim Burger 1 1 AG Palaeogenetik, Institute of Anthropology, SBII, Johannes Gutenberg University, Colonel Kleinmann-Weg 2, 55128, Mainz, Germany, 2 German Archaeological Institute, Im Dol 4-6, 14165, Berlin, Germany, 3 Research Department of Genetics, Evolution and Environment, University College London, Darwin Building, Gower Street, WC1E 6BT, London, UK, 4 Department of Evolutionary Biology, Evolutionary Biology Centre, Uppsala University, Norbyvagen 18D, SE-752 36, Uppsala, Sweden

The domestication of horse played a key role in human history. It seems to have happened far both in time and space from the domestication of other ungulates such as cattle, pig, sheep and goat. Archaeological studies, nevertheless, failed in determining exactly the region and modality for horse domestication: several centers have been proposed (at least one in Europe and one in Central Asia) and the relationship between wild and early domestic populations are not clear. From a genetic point of view a phylogenetic approach on modern mitochondrial diversity could not find any structure related with geography or breeds. In the last decade ancient DNA became an important tool to reconstruct past demography. We obtained more than 100 HVR I sequences from pre domestic and domestic specimens found in Europe and Central Asia. After collecting all the previously published ancient and modern comparable sequences from the sub mentioned regions, computer simulations with a Bayesian approach were performed in order to test demographic models related with single or multiple domestications with or without gene flow. A single domestication appears to be unrealistic on the basis of mitochondrial data, while possible model of multiple domestications will be discussed.

The complete mitochondrial genome of a third individual from Denisova Cave

Susanna Sawyer 1 , Bence Viola 1 , Marie-Theres Gansauge 1 , Michael Shunkov 2 , Anatoly Derevianko 2 , Svante Paabo 1 1 Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany, 2 Paleolithic Department, Institute of Archaeology and Ethnography, Russian Academy of Sciences, Siberian Branch, Novosibirsk, Russia

A draft genome sequence was determined in 2010 from a small finger bone found in Denisova Cave in southern Siberia and was recently completed to 30-fold coverage. Its analysis reveals that it derived from an individual that belonged to a population related to, but distinct from, Neandertals. A large molar has also been described from Denisova Cave and shown to carry an mtDNA genome closely related to that of the finger bone. A second molar was found in Denisova Cave in 2010. We have captured and sequenced the complete mitochondrial genome of this tooth. While the mtDNAs of the finger bone and the first molar differ at only two nucleotide positions, they carry 86 and 84 differences, respectively, to the second molar. Thus, the maximum amount of mtDNA differences observed among these three Denisovans found within one cave is almost twice as large as the maximum differences seen among six Neandertals for which complete mtDNAs are available. Interestingly, the mtDNA of the second molar has a shorter branch than the other two Denisovan mtDNAs, suggesting that it may be older than the others.

In search of Dionysos. Reassessing a Dionysian context in early Rome

This is the title of a recent dissertation by Carina Håkansson which can be downloaded here. The abstract:

In the present study the possibility of an early appearance of the god Dionysos and his sphere in archaic Rome, in the decades around 500 BC, will be examined.

In early scholarship, rooted in the 19th century, the phenomenon of Dionysian ecstatic rites, cults, and satyr-plays in Roman society was denied. According to that view and the subsequent tradition in religious studies, such cultic activities were not present in Rome. Furthermore, due to Christian presuppositions, religion could scarcely be connected with sexual activities and bawdy behaviour, and as this is one fundamental quality in Dionysian cultic activities, it was reason enough for neglect and rejection of the thought of Dionysian cult as religion proper, on the whole. These preconceptions have long prevailed and formed the foundation for research in Roman religious studies. Scholars in various disciplines now challenge these ideas.

The theoretical framework in this multidisciplinary study focuses on an intercontextual methodology and will have the approach of a case study. The starting point is thus to make a reassessment of the evidence at hand. The importance of the iconographic material is brought forward, beside the literary and epigraphic sources. Finds from the Greek and Etruscan areas supply a comparative perspective since Rome hardly can be seen as an isolated entity. It is suggested that ideas and values travelled rather freely in the area. Parallel Dionysian phenomena are known in the cultural spheres influencing Rome. Dionysos’ visual manifestations are in focus as well as Dionysos’ possible revelation in early Rome and plausible relation to the god Liber. Moreover, the diverse aspects of the satyrs as part of the Dionysian sphere are treated and an attempt is made to explain the satyr in a religious context. Liminality is a central feature when satyrs are concerned, and their function as a symbol of inversion of order is considered. Arguments are given for a strong connection between ritual and performance, thus indicating a cultic origin of performances in Rome, and for an early appearance of Dionysos and his thiasos.

Genetic discontinuities between Etruscans and modern Tuscans

It is great that such a large medieval sample was assembled for this study, and hopefully it will be possible to type it for either Y chromosome or autosomal markers to determine whether continuity between medieval and modern Tuscans was only matrilineal.

I am not very surprised by the inferred genetic discontinuity. Gene pools maintain their separateness if their bearers have some sort of distinction (linguistic, political, religious, or cultural) from their neighbors. For Etruscans, such distinctions were rapidly dissolved when they were annexed by the Romans. In Imperial times, their language was still known by some, but this, too, passed into oblivion.

As distinctions disappear, so do impediments to bidirectional gene flow. The genetic characteristics of the original people do not so much disappear (genetic genealogists will surely soon scour the databases for ancient Etruscan matches, if they haven't done it already), but are diffused in the larger pool of now undifferentiated neighbors, who, in their turn, diffuse into the territory of the old ethnic entity.

The "Etruscans" label of this post points to many studies in this unfolding story of Etruscan origins. Etruscans remain, until now, the only ancient Mediterranean population for which a substantial mtDNA characterization exists.

PS: Interestingly, the conference abstract which I pointed to earlier seemed to suggest that the genetic discontinuity occurred after 1,500AD rather than before 1,000AD, as the published paper does.

(More on the details of the study to follow after I read the paper)

UPDATE I (Jul 2)

From my reading of Table 2, the medieval Tuscan sequences are:

10 of CRS
2 of 16311C
2 of 16294T 16296T 16304C

and 1 of the following:

16224C 16311C 16355T
16274A
16126C 16193T
16126C 16193T 16294T 16296T 16304C
16114A
16174T
16304C
16318T
16126C 16294T 16296T 16304C
16223T
16189C
16261T
16126C

which seems to indicate a mix of haplogroups H, HV, T, and K in the population according to the Genographic project tool.

UPDATE II (Jul 2)

From the paper:

Analyses of mtDNA diversity in the British Isles (Töpf et al. 2007), and Iceland (Helgason et al. 2009), also showed sharp differences between historical and current populations. In addition, a large fraction (up to 80%, depending on the region considered) of the Dutch surnames were displaced from the areas in which their frequency was highest three centuries ago (Manni et al. 2005). Nobody can tell whether the Netherlands represent an exception or the rule, until similar studies are carried out elsewhere, and there is no comparable information on previous centuries. However, the point here is that a genetic discontinuity between present and past populations seems rather common in the few European countries studied so far. Deep demographic changes in the last two millennia are both suggested by the analysis of ancient DNA in Tuscany, Iceland and Britain, and empirically demonstrated in the Netherlands. Our failure to reproduce by simulation the observed haplotype number of the contemporary Tuscan samples may mean that such changes involved multiple immigration processes, too complex to model at present.

The paper by Töpf et al. in turn points to this study of ancient British mtDNA which I had forgotten about. That study shows an increase of haplogroup H (as most of the OTHER probably is) in modern times compared to the past, and the drastic reduction of some haplogroups as U5a1 and U5a1a. Other cases of apparent drastic change over time, involves the Central Europeans (reduced haplogroup N1a) compared to early Central European farmers., and medieval vs. modern Danes (reduced haplogroup I).

So, the picture does seem to suggest substantial changes in mtDNA gene pools over time across many parts of Europe and time frames. Whether this reflects population movements or selection, remains to be seen. In the paper on the Netherlands, for examples (Manni et al.) cited in this paper shows that the original surnames in a region can be rapidly replaced over a genealogical time frame.

Studies such as these put into question the widely held assumption that modern gene pools reflect prehistorical events, such as the repopulation of Europe after the glacial age, or the advent of farming. If genetic change is so substantial over 100 generations, we are rather foolish, I believe, to attempt prehistoric reconstructions about events that took place 300 or even 600 generations ago.

UPDATE (July 13): An additional factor that may explain why ancient gene pools look different than modern ones may be of course due to post-mortem damage of the DNA, which makes it look different when it is not so. However, in the case of the Etruscan data of Vernesi et al., the question of DNA degradation was addressed in an independent study by Mateiu et al. which found no evidence for it.

Thus, while one can't be too cautious, the evidence seems strong in this case that we are dealing with an authentic snapshot of ancient Etruscan mtDNA.

Molecular Biology and Evolution, doi:10.1093/molbev/msp126

Genealogical discontinuities among Etruscan, Medieval and contemporary Tuscans

Silvia Guimaraes et al.

The available mitochondrial DNA (mtDNA) data do not point to clear genetic relationships between current Tuscans and the Bronze-Age inhabitants of Tuscany, the Etruscans. To understand how and when such a genetic discontinuity may have arisen, we extracted and typed the mtDNAs of 27 medieval Tuscans from an initial sample of 61, spanning a period between the 10th and 15th centuries A.D.. We then tested by serial coalescent simulation various models describing the genealogical relationships among past and current inhabitants of Tuscany, the latter including three samples (from Murlo, Volterra, Casentino) which were recently claimed to be of Etruscan descent. Etruscans and medieval Tuscans share three mitochondrial haplotypes, but fall in distinct branches of the mitochondrial genealogy in the only model that proved compatible with the data. Under that model, contemporary people of Tuscany show clear genetic relationships with Medieval people, but not with the Etruscans, along the female lines. No evidence of excess mutation was found in the Etruscan DNAs by a Bayesian test, and so there is no reason to suspect that these results be biased by systematic contamination of the ancient sequences or laboratory artefacts. Extensive demographic changes before 1000 A.D. are thus the simplest explanation for the differences between the contemporary and the Bronze-Age mitochondrial DNAs of Tuscany. Accordingly, genealogical continuity between ancient and modern populations of the same area does not seem a safe general assumption, but rather a hypothesis that, when possible, should be tested using ancient DNA analysis.

Link

AAPA 2009 abstracts

The book of abstracts (pdfs) from the 2009 conference of the American Association of Physical Anthropologists has many interesting and important topics. I list the titles of those that caught my eye, with the full abstracts and some comments on some of them.

The first one is very important since it shows continuity between ancient Etruscans and medieval/Renaissance Tuscans, and discontinuity between the latter and modern Tuscans.

Recent demographic changes account for the genealogical discontinuity between Etruscan, Medieval and modern Tuscans. GUIDO BARBUJANI, SILVIA GUIMARAES, ANDREA BENAZZO, LUCIO MILANI , DAVID CARAMELLI.

The available mitochondrial DNA
data appear incompatible with the
view that modern Tuscans are
descended from the Etruscans who
inhabited the same region 2,500
years ago. To understand how and
when such a genetic discontinuity
may have arisen, we extracted and
typed the mtDNAs of 27 medieval
Tuscans from an initial sample of
61, spanning a time period between
the 10th and 15th centuries A.D..
Etruscans and medieval Tuscans
share four mitochondrial
haplotypes, and serial coalescent
simulations show a clear
genealogical continuity between
them. By contrast, it was
impossible to fit into the same
mtDNA genealogy modern
inhabitants of the same area,
including those (Murlo, Volterra,
Casentino) who were recently
claimed to be of Etruscan descent.
These data strongly suggest that the
Etruscans did not get extinct when
their culture disappeared with the
Roman assimilation. However, they
contributed little to the modern
mitochondrial gene pool, probably
because of extensive immigration
after 1500 A.D.. No evidence of
excess mutation was found in the
ancient DNA by a Bayesian test,
and so there is no reason to suspect
that these results be biased by
laboratory artefacts in the ancient
sequences. Genealogical continuity
between ancient and modern
populations of the same area does
not seem a safe general assumption,
but rather a hypothesis that should
and can be tested using ancient
DNA analysis.

Stable isotope and mtDNA evidence for geographic origins at the site of Vagnari
(2nd- 4th centuries AD), Italy. T.L. PROWSE, T.E. VON HUNNIUS, AND J.L. BARTA.

Arsinoe IV of Egypt, sister of Cleopatra identified? Osseous and molecular challenges. F. KANZ, K. GROSSSCHMIDT, J. KIESSLICH.

Arsinoe IV of Egypt, the younger
sister of Cleopatra, was murdered
between the ages of 16 and 18 on
the order of Marc Antony in 41 BC
while living in political asylum at
the Artemision in Ephesus
(Turkey). Archaeological findings
and architectural features point to
the skeletal remains found in the socalled
Oktogon - Heroon in the
center of ancient Ephesus - to being
those of Arsinoe IV. Respective
remains were dated and
investigated by forensic osteology,
radiology and ancient DNA
analysis to assess identification:
Radiocarbon dating (VERA-4104)
isolated the period between 210 and
20 BC (94 % prob.).
Morphological features suggest a
female with an estimated body
height of 154 cm (+/- 3 cm) and
with limbs in good proportion to
one another. Epiphyseal closure and
histological age estimation (femoral
cross sections) revealed a consistent
age at death between 15 and 17
years. The whole skeleton appeared
to belong to a slim and fragile
individual (soft tissue
reconstruction was applied and
compared to ancient sources).
Stress markers, like Harris’ lines
were absent and no sings for heavy
workload or pre- or perimortal
traumas were found. Ancient DNA
analysis was carried out for several
bone samples. No nuclear DNA
was detected, most likely due to
diagenetic factors and storage
conditions. Endeavors to find
mitochondrial DNA are currently in
progress. Investigations could
neither verify nor disprove the
theory on the origin of the remains.
However, after successful mtDNA
typing a maternal relative reference
sample would be required for final
identification.

The importance of slavery in agriculture: paleopathological evidence from Classical Thebes, Greece. E. VIKA

A hypothesis endorsed by many
writers is that, in the social system
of Classical times, citizens did not
work for a living. This is supported
by iconography and literary
evidence, which presents a wellestablished
life of leisure for the
free. Therefore, slaves were solely
responsible for the cultivation of
land, forming a powerful
workforce.
However, social organization in
Classical Thebes may have been
very different from what is known
for Classical Athens, and indeed
many writers caution against
applying the Athenian model to all
Greek cities of the period. It may be
more likely that in Thebes, were
population density was such, that
people lived under maximum land
capacity, the need for labor force
was extreme. In this case, slaves
would have joined families and
worked with them.
Physical anthropology can provide
compelling evidence in the matter
of the division of labor in antiquity,
clearly portraying individuals not
involved in manual labor. The
present study examined 50
skeletons from Thebes’ most
extensive historical cemetery. The
results show that activity-related
skeletal alterations, traumas and
pathologies had affected the entire
population, verifying that slaves
and freemen were equally involved
in agricultural activities. This
evidence is important in
reconstructing social structure in
Thebes, moves away from the
domination of the paradigm of
Classical Athens and provides apt
information for the extreme need of
agricultural labor in the area during
this time.

Identification of infanticide in the Greco-Roman world: a contrary view from the Agora of Athens. M.A. LISTON.

The identification of infanticide in
perinatal skeletons is a topic that
has engendered considerable
controversy; distinguishing normal
infant mortality from catastrophic
death or large-scale infanticide is
difficult at best. Roman-era infant
skeletons deposited in a sewer at
Ashkelon, Israel (Smith and Kahila
1992) have been identified as
victims of infanticide, based
primarily on the age-at-death
distributions and the lack of formal
burial. Similar age distributions
from Roman cemetery burials have
been interpreted both as infanticide
in Britain (Mays 1993) and natural
infant mortality in Egypt (Tocheri
et al. 2005). Analysis of a late
Hellenistic/early Roman group of
perinatal infant skeletons (n=457)
deposited in a well in the Athenian
Agora, suggests that infanticide
may not be the appropriate
interpretation of perinatal mortality,
even in the absence of formal
burial. The frequency distributions
of long bone lengths indicate that
all of these sites have similar
patterns, but the Agora infants also
have been demonstrated to have
died from a variety of natural
causes including premature birth
and infectious disease (Liston
AAPA 2007). The age distribution
is similar to that found in other
collections of infants, all identified
as natural perinatal mortality. As
further evidence against widespread
infanticide, morphological
evaluation of the 321 preserved ilia
from the Agora tentatively suggests
a nearly balanced sex ratio as
expected with natural deaths, in
contrast to a subsample from
Ashkelon (Mays and Faerman
2001). However, the identification
of developmental defects in at least
nine Agora infants suggests that
infanticide may be implicated in
some infant deaths.

This seems quite interesting, the frequency of J2 (12%) and G (6%) seem to be quite high in this sample compared to white Americans and Britons.

Finding the Scot in the Scottish-American: Examination of ethnic identity through the Y-chromosome. K.G. BEATY AND M.L. MEALEY.

It is estimated that over 12 million
Americans claim Scottish ancestry.
To determine whether individuals
self-identifed as Scottish carry
Scottish genetics markers in their
genes, samples were collected from
50 males at the 2006 Kansas City
Highland Games. All individuals in
the sample identified themselves as
“Scottish.”. To determine possible
contribution from a paternal line,
surnames where analyzed. All but
6% of the individuals have
surnames that are currently found in
Scotland, with most surnames
having been present in the historical
records the since the mid 1500’s.
Analysis of 9 short-tandem repeats
on the Y-chromosome (YSTRs)
identified probable Y haplogroup
assignment. Individuals in this
sample represented the following
haplogroups: R1b, R1a (3%), I
(11%), J2 (12%), G (6%) and E3b
(4%). Haplogroup R1b dominates
the sample at 64%, as would be
suspected of a population with
origins in Western Europe.
Haplogroup frequencies are found
at those similar to the current
Scottish population, as well as in
similar frequencies to the rest of the
British Isles. All but six Y-STR
haplotypes matched individuals in
the current Scottish population.

Paleoamericans in a Late Pleistocene context: assessing morphological affinities. M. HUBBE, K. HARVATI, W. A. NEVES.

Biological variation resulting from Inka imperialism. J.D. BETHARD.

Craniometric divergence of Japanese inhabitants due to gene flows from Prehistoric Northeast Asians. H. ISHIDA, T. HANIHARA, O. KONDO.

The Swatis of northern Pakistan—Emigrants from Central Asia or colonists from peninsular India?: a dental morphometric investigation. B.E. HEMPHILL.

Considerations for the Population History of the Wakhan Corridor: An Odontometric Investigation of Wakhi Biological Affinity and Diachronic Analysis of Biological Interaction Between Northern Pakistan and South Asia. P.W. O’NEILL AND B.E. HEMPHILL.

The people of the Xiongnu culture (3rd century B.C. to 2nd century A.D.): Insights into the biological diversity of the earliest Eurasian nomadic steppe empire. R.W. SCHMIDT, B. CHRISTY, A. BURCH, A.R. NELSON, N. SEGUCHI.

Rome if you want to: immigrants in the Empire. K. KILLGROVE.

Recognizing population displacements and replacements in prehistory: A view from North Africa. C.M. STOJANOWSKI.

The working class at Hierakonpolis. Nubian or Egyptian?. K. GODDE.

Craniofacial evolution in Polynesia: A geometric morphometric study of population diversity. T.J. BUCK, U. STRAND VIÐARSDÓTTIR

The state of health of Roman Republic to Imperial Roman period burials from the necropolis of Aquinum, Italy. R.R. PAINE, R. VARGIU, G.R. BELLINI, D. MANCINELLI, P. SANTORO, A. COPPA.

Health and lifestyle of ancient pastoralists from Mongolia. J.J. BEACH, M.L. MACHICEK, A.R. NELSON.

Regional patterns among Holocene hunter-gatherers of southern Africa. SUSAN PFEIFFER AND JUDITH SEALY

Ecogeographic variation in the ontogeny of hunter-gatherer physique and skeletal robusticity. JAY STOCK

Hunter-fisher-gatherer dietary adaptations in Neolithic and Bronze Age Siberians. M.A. KATZENBERG, H.G. MCKENZIE, A.W. WEBER AND O.I. GORIUNOVA.

Basques in an Indo-European sea: a perspective from tooth crown morphology. SCOTT GR

Session 5. Reconstructing Health and Disease in Europe: The Early Middle Ages through the
Industrial Period. Invited poster symposium. River Exhibition Hall B.

Stable isotope analysis of diet among Bronze Age and Iron Age inhabitants of Xinjiang Uyghur Autonomous Region, China. J.T. ENG, Q. ZHANG, H. ZHU.

The nasal cavity of Pleistocene hominins: implications of climate-related variation among modern humans. M.L. NOBACK, F. SPOOR.

Inferred body proportions of a southern European Neandertal, Palomas 92. E. TRINKAUS, M.J. WALKER, J. MAKI, M.V. LÓPEZ, J. ORTEGA.

Buccal dental microwear and tooth crown morphology in Neandertals and modern humans show significant correlations with prevailing climatic conditions throughout the Middle and Upper Paleolithic in Europe. B. PINILÑLA, A. PÉREZ-PÉREZ.

Geographic structure of global craniometric variation. J.H. RELETHFORD

Australian craniofacial evolution: drift, selection, or all of the above? E.A. CARSON.

Identifying selection and genetic drift in the landmark-based 3D cranial morphology of modern humans. H.F. SMITH

The paradox of human cranial variation. T.D. WEAVER

Geographic structure of craniofacial variation in modern human populations: an R-matrix approach. T. HANIHARA, H. ISHIDA.

Population history and cranial morphology in a large human skeletal dataset. K. HARVATI, M. HUBBE, D.V. BERNARDO, T. HANIHARA

Natural selection, random genetic drift, and the study of morphological variation. C.C. ROSEMAN.

Quantitative genetic insights on the evolutionary processes operating on human skull shape. N.
MARTÍNEZ ABADÍAS.

Ancient demography, not climate, explains within-population phenotypic diversity in humans. A.
MANICA, L. BETTI, F. BALLOUX, W. AMOS, T. HANIHARA.

Evidence for the influence of diet on cranial form and robusticity. R.A. MENEGAZ, S.V. SUBLETT, S.D. FIGUEROA, T.J. HOFFMAN, M.J. RAVOSA, AND K. ALDRIDGE.

New Frameworks of Understanding for the Origins of Agriculture. BRUCE SMITH

Natural selection, longevity, and the Neandertal-modern interface. J. HAWKS.

The Neanderthal face is not cold adapted. T. C. RAE, T. KOPPE, C. B. STRINGER.

Functional implications of the unique Neandertal face. A. MAROM, Y. RAK.

Using 3-D geometric morphometric techniques to further understand the relationship between Neanderthals and Homo sapiens. J.A. MINETZ.

Qualitative and quantitative analyses of the Holocene Khoesan dentition. W. BLACK.

The brain morphology of Homo Liujiang cranium fossil by 3-D CT. X.J. WU, W. LIU. W. DONG, J.Q. QUE, Y.F. WANG

Scurvy in a Late Roman Greek child: multiple lines of evidence. S. GARVIE-LOK, C. PENNYCOOK, R. STARK.

Genetics, Selection, Perception and the Human Face. M.D. SHRIVER, D. LIBERTON, AND K. MATTHES, J. BOSTER AND D.A. PUTS.

Evolution and natural selection of skin color. E.J. PARRA

Late Pleistocene/Holocene human populations transition in Old World: the analysis of morphological dental traits. A. COPPA, F. CANDILIO, A. CUCINA, F. DEMETER, A.KUTTERER, M. LUCCI, F. MANNI, A. OUJAA, S. ROUDESLI-CHEBBI, R. VARGIU.

Morphometric analysis of the Herto cranium (BOU-VP-16-1): Where does it fit? K.D. LUBSEN, J.L. MAYHER, R.S. CORRUCCINI.

Assessing the relationship between craniofacial morphology and genetic variation in a population with admixed ancestry. F.I. MARTINEZ, D. BUSEL, M. MORAGA, G. MANRÍQUEZ, M. BELLATTI, F. LAHR, M.M. LAHR

A genetic association study of normal variation in facial features. D.K. LIBERTON, K.A. MATTHES, B. MCEVOY, R. PEREIRA, T. FRUDAKIS, M.D. SHRIVER.

Dissimilarity fraction for metrical traits of human skull: comparison with genetic studies. A.M. STRAUSS, M. HUBBE.

Cranial nonmetric study of archaeological populations from different historical periods of Mongolia ERDENE MYAGMAR.

Genetic and Linguistic Coevolution in Native Latin America. N.J. SCHNEIDER, K.L. HUNLEY,

Analysis of aDNA From Maya Skeletal Remains Using the Mitochondrial Control Region. ELIZABETH LAVOIE.

Search for founder mitochondrial lineages in Holocene human remains in Patagonia. M. MORAGA, E. ASPILLAGA, F. MENA.

Genetic diversity in South Amerindian populations. M.L. PAROLIN, A.S. GOICOECHEA, C.B. DEJEAN, S.A. AVENA, F.R. CARNESE.

Global human population structuring seen from craniometric data. D. V. BERNARDO, T. F. ALMEIDA, W. A. NEVES, T. HANIHARA

MHC and mate choice in humans. RAPHAËLLE CHAIX, CHEN CAO, PETER DONNELLY.

The operational sex ratio (OSR) among hunter-gatherers: cause or effect of male-male competition? MARLOW, FW AND BERBESQUE, JC

Mitochondrial DNA diversity of Yemenite and Ethiopian Jewish populations. NON, AMY L.

Genetic structure of the Spanish populations: the end of the Basque singularity? F. CALAFELL, H. LAAYOUNI, P. GARAGNANI, A. GONZÁLEZ-NEIRA, J. BERTRANPETIT.

Inferring human gene flow over Mediterranean space towards Iberian Peninsula based on Y-chromosomal haplogroups E and J in a coastal Andalusian population (Southern Spain). R. CALDERÓN, B. AMBROSIO, J.M. DUGOUJON, C. HERNÁNDEZ, D. DE LA FUENTE, A. GONZÁLEZ-MARTÍN, J.N. RODRÍGUEZ, A. NOVELLETTO.

Evidence supporting two centers of population differentiation in East Asia: Siberia and SE Asia. M.S. SCHANFIELD, S. MILLER, R. SHYU,M. MOUNT, H.F. POLESKY, R. CASTRO, H. EHRLICH, U. EKE, S. MACK, R.J. MITCHELL, M. COBLE, K. MELVIN, M. H. CRAWFORD.

Climate and Craniofacial shape variation among major human populations: a geometric morphometric approach. M. FRIESS.

Sign, sign, everywhere a sign: high density haplotype maps of the dog, human, and cow genomes reveal extensive human reorganization of domesticated genomes. CARLOS D. BUSTAMANTE, ELAINE A. OSTRANDER, MAGNUS NORDBORG, MATTHEW R. NELSON, MICHELE CARGILL, RICHARD A. GIBBS, AND ROBERT K. WAYNE

Insights from sequencing the Neandertal genome. J. KRAUSE, R. E. GREEN, A.W. BRIGGS, U. STENZEL, K. PRUEFER, T. MARICIC, M. KICHNER, J. KELSO, D. REICH, J. C. MULLIKIN, M. EGHOLM & S. PÄÄBO

Layers of history within humanity's genomes. J.L. MOUNTAIN.

The genetic basis of phenotypic variation in Africa: Evidence for local adaptation. S. A. TISHKOFF, M. CAMPBELL, A. FROMENT, J. HIRBO, M. IBRAHIM, S. OMAR, A. RANCIARO.

Seasonality and Brain Size: What’s the Link? J.T. VAN WOERDEN, K. ISLER, C.P. VAN SCHAIK.

mtDNA haplogroup U7a2a: a recent Anatolian signal in Tuscans

This paper uses a mutation rate of 1.008 base substitutions/nucleotid/billion years. See some discussion of mtDNA mutation rates here and here.

European Journal of Human Genetics doi: 10.1038/ejhg.2008.224

The Etruscan timeline: a recent Anatolian connection

Francesca Brisighelli et al.

Abstract

The origin of the Etruscans (the present day Tuscany, Italy), one of the most enigmatic non-Indo-European civilizations, is under intense controversy. We found novel genetic evidences on the mitochondrial DNA (mtDNA) establishing a genetic link between Anatolia and the ancient Etruria. By way of complete mtDNA genome sequencing of a novel autochthonous Tuscan branch of haplogroup U7 (namely U7a2a), we have estimated an historical time frame for the arrival of Anatolian lineages to Tuscany ranging from 1.1 ± 0.1 to 2.3 ± 0.4 kya B.P.

Link

Method for detecting degradation in ancient DNA

Molecular Biology and Evolution, doi:10.1093/molbev/msn095

Bayesian Inference of Errors in Ancient DNA Caused by Post Mortem Degradation

Ligia M. Mateiu and Bruce Rannala

Methods for extracting and amplifying sequences using ancient DNA (aDNA) can be prone to errors caused by post mortem modifications of the DNA strand. A new statistical method is developed for predicting errors in aDNA sequences caused by such processes. In addition to the canonical DNA substitution model parameters, a discrete Markov chain is used to describe nucleotide substitutions occurring via post mortem degradation of the aDNA sequences. A computer program, BYPASSR-degr, was developed implementing the method and was used in subsequent analyses of simulated datasets under the new model. Simulation studies show that the new method can be powerful and accurate in identifying damaged sites. The method is applied to analyze aDNA sequences of Etruscans, Adélie penguins and horses. No significant signals of degradation were observed at any sites of the aDNA sequences we analyzed.

Link

ESHG 2007 abstracts

I had previously posted about a presentation in this year's ESHG conference about the Y chromosomes of Etruscans. At that time, there was no abstract online, but I noticed that the book of abstracts is available (pdf). The conference took place last June and there will be probably publications coming out of the presentations there.

Some interesting abstracts; you will probably find many more in the volume's 396 pages.

Related to the abstract below about ACTN in Finnish athletes.

P1206. ACTN and ACE genotypes in Greek elite athletes

I. D. Papadimitriou et al.

Only a few attempts have been made to shed light upon the influence of genes in making an Olympic champion. The aim of our study is to elucidate the genetic differences among a group of 101 elite Greek power-oriented track and field athletes and a random representative sample (181) of the Greek population by analyzing ACTN3 and ACE genotypes. Athletes were defined as elite and included to the sample if they had represented Greece at the international level. Standard molecular genetic methodologies were followed. Genotype and allele frequencies were compared between elite athletes and controls by the Chi-squared test using the statistical package GENEPOP V. 3.4. Preliminary results for ACE locus indicated that the gene frequencies in the Greek elite athletes are similar to other northern European populations. Furthermore, concerning the ACTN3 locus, it was showed that ACTN3 genotype and allele frequencies in the top power-oriented athletes were statistically significantly different from those in the random
sample of the Greek population: the frequency of the RR ACTN3 genotype in power-oriented athletes vs. the general population was 47.94% vs. 25.97%. The difference was even more prominent for comparison of the subgroup of sprinters to controls. The results suggest an overall
strong association between the presence of the RR genotype and elite power performance. Therefore, the ACTN3 gene might be used as a molecular genetic marker to at least partially predict an athlete’s ability to achieve peak power and sprinting performance.


C17. Origin of the Etruscans: novel clues from the Y chromosome lineages

A. Piazza et al.

Three hypotheses have been proposed on the origin of the distinctive Etruscan civilization and language that flourished ca. 3,000 years before present (BP) in Central Italy: 1) an external Anatolian source (Lydia and Lemnos) as claimed by Herodotus, 2) an autochthonous
process of formation from the preceding Villanovan society as firstly proposed by Dionysius of Halicarnassus and 3) an influence from Northern Europe. A synthetic geographical map summarizing 34 classical genetic markers in Italy differentiates a genetically homogeneous
Central Italian region between the Arno and Tiber rivers (ancient Etruria) from the rest of Italy. While this fact was tentatively interpreted as a genetic footprint of the Etruscans, its verification remained a challenge due to lack of data on differentiation of such markers and its calibration
with time. Here we show the genetic relationships of modern Etrurians, who mostly settled in Tuscany, with other Italian, Near Eastern and Aegean peoples by comparing the Y-chromosome DNA variation in 1,264 unrelated healthy males from: Tuscany-Italy (n=263), North Italy (n=306), South Balkans (n=359), Lemnos island (n=60), Sicily and Sardinia (n=276). The Tuscany samples were collected in Volterra (n=116), Murlo (n=86) and Casentino Valley (n=61).
We found traces of recent Near Eastern gene flow still present in Tuscany, especially in the archaeologically important village of Murlo. The samples from Tuscany show eastern haplogroups E3b1-M78, G2*-P15, J2a1b*-M67 and K2-M70 with frequencies very similar to those observed in Turkey and surrounding areas, but significantly different from those of neighbouring Italian regions. The microsatellite haplotypes associated to these haplogroups allow inference of ancestor lineages for Etruria and Near East whose time to the most recent common ancestors is relatively recent (about 3,500 years BP) and supports a possible non autochthonous post-Neolithic signal associated with the Etruscans.

P1135. Y chromosome analysis in subpopulations of Bashkirs from Russia

A. S. Lobov et al.

The Volga-Ural region which is located between Europe and Asia has been the arena of permanent genetic exchanges among Siberian, Central Asian, Eastern European populations. We have sampled seven Bashkir subpopulations from different parts of the Volga-Ural region and neighboring areas of Russia: Orenburg (N=79), Perm (N=72), Samara and Saratov (N=51), and from Bashkortostan Republic: Abzelilovskiy (N=152), Sterlibashevskiy (N=54), Baimakskiy (N=95), and Burzaynskiy area (N=82). These samples are currently being analyzed using 24 diallelic markers of Y-chromosome (M89, M9, M20, M48, M73, M130, M170, M172, M175, M201, M207, M214, M217, M231, M253, M269, M306(M173), P15, P37, P43, SRY1532, Tat, 92R7(M74), 12f2). According to our preliminary findings Turkic speaking Bashkirs are characterized by prevalence of R1b3 and R1a lineages. Among all subpopulations, Perm and Baimakskiy area represent with hight frequency (0.748 0.769,).It indicate there closeness with West European populations. Haplogroup R1a have frequency value 0.486 in Samara and Saratov’s Bashkirs and frequency value 0.370 Bashkirs from Sterlibashevskiy area. The N3 characterize for subpopulation Bashkirs from Sterlibashevskiy area (0.537), Orenburg (0.342). Bashkirs from Abzelilovskiy area have main frequency (0.474). These differences possibly indicate that different subpopulations of Bashkirs have different origin. We found that Bashkirs from Perm district were characterized by relatively low genetic diversity, which could be explained by founder effect. Bashkirs from Orenburg region which are anthropologically closer to Ugro-Finnic populations are characterized by high frequency of N3 haplogroup. We will try to compare our results with archeologycal, historycal and anthropological data in discussed about of origin of different groups Bashkir

P1191. Analysis of mitochondrial DNA polymorphism in four Siberian ethnic groups

M. V. Golubenko et al.

Mitochondrial DNA polymorphism was studied in 1130 individuals from 12 populations of the most numerous Siberian peoples - Altaians (4 populations), Tivinians (3 populations), Yakuts (2 populations) and Buryats (3 populations). 308 different HVS1 haplotypes were revealed
in total which belong to 34 different mtDNA haplogroups, mainly of East-Eurasian origin. Portion of “West-Eurasian” mtDNA haplogroups was the highest in Altaians (up to 46%) and Buryats (up to 20%). AMOVA analysis has shown that 95,78% of HVSI variation was within populations, 2.09% could be explained by inter-population differentiation and 2.09% was variability between ethnic groups. Test on differentiation of polymorphism in population pairs has shown that in all cases except the pair of Yakut samples the differentiation was significant. AMOVA analysis for separate ethnic groups revealed the highest degree of intraethnic differentiation for Altaians (3.78%), followed by Tuvinians (2.61%) and then Buryats (0.43%). Comparison of spectrum of
haplogroups and individual haplotypes in the populations under investigation also shows significant differentiation of native Siberian populations. Only two haplotypes from haplogroup C and one haplotype from D could be considered as common for all four ethnicities. One more
haplotype from C was abundant in Tuvinians, Yakuts and Buryats but rare in Altaians. Substantial number of haplotypes was population-specific. Analysis of migrations and interethnic marriages revealed various effects of these factors depending both on ethnicity and particular
population. The results suggest considerable ethnic differentiation in the studied Siberian peoples, as well as geographic differentiation.


P1192. Paleomolecular genetic analyses (mitochondrial and nuclear DNA polymorphisms) on some Thracian populations from Romania, dating from the Bronze and Iron Age

G. M. Cardos et al.

We have performed this study on the skeletal remains of some old Thracian populations from Romania, dating from the Bronze and Iron Age. Therefore, within our research we analysed mtDNA (HVR I and HVR II regions) and nuclear DNA (vWA31A Microsatellite) polymorphisms
in order to show the degree of their genetic kinship with other old and modern European populations, especially with nowadays Romanian population. We also amplified the Amelogenin gene to identify the genetic sex of old individuals. We have used three methods for DNA-extraction from human fossils and adapted them on the degradation
state of the biological material: the phenol-chloroform DNA extraction method, the DNA extraction method with guanidine-tiocianate and silica-particles, and the DNA-extraction method with Invisorb Forensic After amplifying by PCR, the mtDNA sequences were sequenced
by the Sanger method. The nuclear vWA31A Microsatellite polymorphisms and the Amelogenin gene sequences were demonstrated on PAA gel, Ag-stained.
We have compared the mtDNA sequences of 50 old Thracian individuals with mtDNA sequences of the present-day Romanian population and other European, Asian and African modern and old populations. The frequencies of vWA31A Microsatellite were compared with similar genetic data of other modern populations from all over the world. Our results suggest that the old Thracian populations might have made an important contribution to the foundation of the modern genetic Romanian pool and also reflect an evident genetic similarity between the old Thracian populations and other modern populations from South-East Europe.

P1193. Analyses of mitochondrial and Y-chromosomal lineages in modern Hungarian, Szekler and ancient Hungarian populations

B. Csányi et al.

Hungarian population belongs linguistically to the Finno-Ugric branch of the Uralic language family. High-resolution mtDNA analysis of 27 ancient samples (10th-11th centuries), 101 modern Hungarian, and 76 modern Hungarian-speaking Szekler samples was performed. Only two of 27 ancient Hungarian samples are unambiguously Asian: the rest belong to one of the western Eurasian haplogroups. Statistical analyses, including 57 European and Asian populations, revealed that some Asian affinities and the genetic effect of populations who came into contact with ancient Hungarians during their migrations are seen. Though strong differences appear when the ancient Hungarian samples are analyzed according to apparent social status, as judged by grave goods. mtDNA results demonstrate that significant genetic differences exist between the ancient and recent Hungarian-speaking populations. The Y-chromosomal base substitution ”Tat”, proved to be a valuable marker in the Finno-Ugric context. The Tat C allele is widespread in many Uralic-speaking populations, while it is virtually absent in recent Hungarians. To further elucidate this finding we studied this polymorphism on 100 modern Hungarian, 97 Szekler and 4 ancient Hungarian samples. Our data revealed that only one Szekler men carries the C allele among the modern individuals, whereas out of the four skeletal remains two possess the mutation. Furthermore we examined 22 Y-chromosomal binary markers to analyze the paternal genetic diversity of the two recent populations.
Our results show that Hungarians and Szeklers share basically the same genetic components found in other European populations, genetically closely related and close to other populations from Central Europe and the Balkan.

P1219. Possible common origin for the Tibeto-Burman and Austro-Asiatic speaking populations of India: a Y-chromosome study

Nicholas Wade on Etruscan Origins

Nicholas Wade has an article in the New York Times summarizing the recent research ib Etruscan origins (click on the label below for more) and giving some interesting background on the dispute between 'indigenist' and 'migrationist' views of Etruscan origins:

“The overwhelming proportion of archaeologists would regard the evidence for eastern origins of the Etruscans as negligible,” said Anthony Tuck, an archaeologist at the University of Massachusetts Center for Etruscan Studies.

Because Italians take pride in the Roman empire and the Etruscan state that preceded it, asserting a foreign origin for the Etruscans has long been politically controversial in Italy. Massimo Pallottino, the dean of modern Etruscan studies in Italy who died in 1995, held that because no one questioned that the French, say, developed in France, the same assumption should be made about the Etruscans. “Someone who had a different position didn’t get a job in archaeology,” said Antonio Torroni, a geneticist at the University of Pavia.

...

In Tuscany as a whole, part of the ancient Etruscan region of Etruria, the Torroni team found 11 minor mitochondrial DNA lineages that occur nowhere else in Europe and are shared only with Near Eastern people. These findings, the teams says, “support a direct and rather recent genetic input from the Near East, a scenario in agreement with the Lydian origin of the Etruscans.”

Dr. Torroni said he had data awaiting publication that are based on Y chromosomes and point to the same conclusion.

ESHG 2007

In this summer's European Society of Human Genetics conference one of the presentations will be on "Origin of the Etruscans: novel clues from the Y chromosome lineages". I wonder if my prediction of a high representation of Y haplogroup J1 (almost equivalent to J*(xJ2)) among the ancient Etruscans will be supported by this research. Unfortunately, I did not see an abstract posted yet. Another interesting title is "Epidemics of viral haemorrhagic fever in Medieval times as a possible selection pressure for CCR5del32 in Europe: new insights from Croatian island isolates". This involves an allele which confers resistance to the HIV virus and which is found frequently particularly in Northern Europeans, so perhaps its presence may be the result of some past selection effect against a different disease.

More evidence for the origin of the Etruscans

The recent articles on Etruscan origins argue in favor of the non-indigenous theory of Etruscan origins.

In the same light, I was looking at the other recent paper on Y chromosome variation in Italy, and I was struck by the elevated frequency (7%) of J*(xJ2) in Central Tuscany. J*(xJ2) occurs at higher frequencies in the Near East than in Europe. For example, in Cinnioglu's study of Anatolian Y chromosomes it occurred at a frequency of around 9%, while the frequency in Greece (pdf) is 2%.

The fact that J*(xJ2) reaches its Italian maximum in Central Tuscany, approaching the Anatolian figure, and being higher than that of Greece is consistent with the emerging consensus. Let's hope that Y chromosome analysis of Etruscan remains will be feasible to directly test for the presence of J*(xJ2) in them.

PS: Interestingly, Sicily and Cyprus also show an elevated frequency of J*(xJ2) (pdf). The Phoenician presence or other historical events could explain this, but as far as I know (?) there is no documented substantial presence of Phoenicians in Tuscany, making the alternative Anatolian origin more likely.

Asian Origins of Etruscan cattle

From the New Scientist:

The team found that almost 60% of the mitochondrial DNA in cows in the central Tuscan region of the country - where the Etruscan civilisation is thought to have arisen - was the same as that in cows from Anatolia and the Middle East. There was little or no genetic convergence between cows from the north and south of Italy and those from Turkey and the Middle East, the researchers say.

Proceedings of the Royal Society B: Biological Sciences (online early)

The mystery of Etruscan origins: novel clues from Bos taurus mitochondrial DNA

Marco Pellecchia et al.

The Etruscan culture developed in Central Italy (Etruria) in the first millennium BC and for centuries dominated part of the Italian Peninsula, including Rome. The history of the Etruscans is at the roots of Mediterranean culture and civilization, but their origin is still debated: local or Eastern provenance? To shed light on this mystery, bovine and human mitochondrial DNAs (mtDNAs) have been investigated, based on the well-recognized strict legacy which links human and livestock populations.

In the region corresponding to ancient Etruria (Tuscany, Central Italy), several Bos taurus breeds have been reared since historical times. These breeds have a strikingly high level of mtDNA variation, which is found neither in the rest of Italy nor in Europe. The Tuscan bovines are genetically closer to Near Eastern than to European gene pools and this Eastern genetic signature is paralleled in modern human populations from Tuscany, which are genetically close to Anatolian and Middle Eastern ones.

The evidence collected corroborates the hypothesis of a common past migration: both humans and cattle reached Etruria from the Eastern Mediterranean area by sea. Hence, the Eastern origin of Etruscans, first claimed by the classic historians Herodotus and Thucydides, receives strong independent support. As the Latin philosopher Seneca wrote: Asia Etruscos sibi vindicat (Asia claims the Etruscans back).

Link

Near Eastern origins of Etruscans

It seems that the ancient authors who recorded the eastern origin of the Etruscans are vindicated. This is from a preprint in AJHG.

Mitochondrial DNA Variation of Modern Tuscans Supports the Near Eastern Origin of Etruscans

Alessandro Achilli et al.

The origin of the Etruscan people has been a source of major controversy for the past 2,500 years and several hypotheses have been proposed to explain their language and sophisticated culture, including an Aegean / Anatolian origin. To address this issue, we analyzed the mitochondrial DNA (mtDNA) of 322 subjects from three well-defined areas of Tuscany and compared their sequence variation with that of 55 Western Eurasian populations. Interpopulation comparisons reveal that the modern population of Murlo – a small town of Etruscan origin – is characterized by an unusually high frequency (17.5%) of Near Eastern mtDNA haplogroups. Each of these haplogroups is represented by different haplotypes, thus dismissing the possibility that the genetic allocation of the Murlo people is due to drift. Other Tuscan populations do not show the same striking feature; however, overall ~5% of mtDNA haplotypes in Tuscany are shared exclusively between Tuscans and Near Easterners and occupy terminal positions in the phylogeny. These findings support a direct and rather recent genetic input from the Near East – a scenario in agreement with the Lydian origin of Etruscans. Such a genetic contribution has been extensively diluted by admixture, but it appears that there are still locations in Tuscany, such as Murlo, where traces of its arrival are readily detectable.

Link (pdf)

Weak genealogical link between Etruscans and modern Tuscans

This paragraph from the article echoes some of the sentiments that I have expressed before on this blog and elsewhere:

Regarding time depth, essentially all studies of mtDNA variation in Europe have drawn conclusions regarding demographic phenomena occurring in a rather remote past. Neolithic or even Paleolithic demographic processes have been inferred from patterns in modern mtDNA diversity in the absence of genetic information on past populations (see, e.g., refs. 10 and 27–29) under the implicit assumption of genetic continuity among people dwelling in the same region at different time periods. The results of this study imply that this assumption is not always correct and that the
mitochondrial gene pool can undergo a drastic turnover in as few as 100 generations.

Proc. Natl. Acad. Sci. USA, 10.1073/pnas.0509718103

Serial coalescent simulations suggest a weak genealogical relationship between Etruscans and modern Tuscans

Elise M. S. Belle et al.

The Etruscans, the only preclassical European population that has been genetically characterized so far, share only two haplotypes with their modern geographic counterparts, the Tuscans, who, nonetheless, appear to be their closest relatives. We modeled 10 demographic scenarios spanning the last 2,500 years and tested by serial coalescent simulation whether any are consistent with the patterns of genetic diversity observed within and between the Etruscan and the modern Tuscan populations. Models in which the Etruscans are the direct ancestors of modern Tuscans appear compatible with the observed data only when they also include a very high mutation rate and an ancient founder effect. A better fit was obtained when the ancient and the modern samples were extracted from two independently evolving populations, connected by little migration. Simulated and observed parameters were also similar for a scenario in which the ancient samples came from a subset, e.g., a social elite, genetically differentiated from the bulk of the Etruscan population. In principle, these results may be biased by factors such as gross and systematic errors in the ancient DNA sequences and failure to sample suitable modern individuals. If neither proves to be the case, this study strongly suggests that either the mitochondrial mutation rate is much higher than currently believed or the Etruscans left very few modern mitochondrial descendants.

Link