December 29, 2007

How Turkish are the Anatolians? (new Alu insertion polymorphism study)

In my 2005 blog post How Turkish are the Anatolians, I estimated, based on Y chromosome frequencies the Central Asian Turkic contribution to the modern-day Anatolians.
Using the figure of 38.5%, the paternal contribution of Turks to the Anatolian population is estimated to about 11%. In lieu of the approximation, allowing for 33% relative error in either direction for both the true frequency of Mongoloid lineages in Anatolia and in early Turks, we obtain a range of 6-22%. It would thus appear that the Turkish element is a minority one in the composition of the Anatolians, but it is by no means negligible.
In a subsequent post on Non-Caucasoid admixture in Turks I estimated that the combined (bi-parental) contribution of Mongoloids in Turks:
Based on these numbers, the non-Caucasoid admixture in Turks can be quantified as 1.87% Negroid, and 6.18% Mongoloid, total 8.05%.
Given that Central Asians, including the likely Turkic ancestors of modern-day Turkish-speaking Anatolians are partly Mongoloid, this later estimate is compatible with a genetic contribution similar to that quoted above.

So, I was pleased to see a new study based on a different set of autosomal Alu insertion polymorphisms from a group of Turkish scientists that arrived at a similar estimate of the Central Asian admixture in Anatolians. So, it appears that about 1/8 of ancestry of Anatolians (equivalent to one great grandparent) came from a Central Asian Turk.

It is very refreshing to see a paper by Turkish scientists who acknowledge what exactly that other 7/8 of the Anatolians' ancestry actually consists of:
Before Seljuks, Anatolia was under the rule of Eastern Romans but was mainly inhabited by people of Greek origin for nearly two millennia (Toynbee, 1970). The process of change of language and religion by the Seljuks that is assimilation of the residents but not the invaders in Anatolia, was one of the puzzles of history (Toynbee, 1970). As the part of puzzle, estimation of the relative size of arriving nomads was the concern of many studies.

American Journal of Physical Anthropology (online early) 10.1002/ajpa.20772

Alu insertion polymorphisms and an assessment of the genetic contribution of Central Asia to Anatolia with respect to the Balkans

Ceren Caner Berkman et al.

In the evolutionary history of modern humans, Anatolia acted as a bridge between the Caucasus, the Near East, and Europe. Because of its geographical location, Anatolia was subject to migrations from multiple different regions throughout time. The last, well-known migration was the movement of Turkic speaking, nomadic groups from Central Asia. They invaded Anatolia and then the language of the region was gradually replaced by the Turkic language. In the present study, insertion frequencies of 10 Alu loci (A25 = 0.07, APO = 0.96, TPA25 = 0.44, ACE = 0.37, B65 = 0.57, PV92 = 0.18, FXIIIB = 0.52, D1 = 0.40, HS4.32 = 0.66, and HS4.69 = 0.30) have been determined in the Anatolian population. Together with the data compiled from other databases, the similarity of the Anatolian population to that of the Balkans and Central Asia has been visualized by multidimensional scaling method. Analysis suggested that, genetically, Anatolia is more closely related with the Balkan populations than to the Central Asian populations. Central Asian contribution to Anatolia with respect to the Balkans was quantified with an admixture analysis. Furthermore, the association between the Central Asian contribution and the language replacement episode was examined by comparative analysis of the Central Asian contribution to Anatolia, Azerbaijan (another Turkic speaking country) and their neighbors. In the present study, the Central Asian contribution to Anatolia was estimated as 13%. This was the lowest value among the populations analyzed. This observation may be explained by Anatolia having the lowest migrant/resident ratio at the time of migrations.


December 22, 2007

South Asian chapter of human prehistory

Molecular Biology and Evolution, doi:10.1093/molbev/msm277

mtDNA Variation Predicts Population Size in Humans and Reveals a Major Southern Asian Chapter in Human Prehistory

Quentin D. Atkinson et al.

The relative timing and size of regional human population growth following our expansion from Africa remains unknown. Human mitochondrial DNA (mtDNA) diversity carries a legacy of our population history. Given a set of sequences, we can use coalescent theory to estimate past population size through time and draw inferences about human population history. However, recent work has challenged the validity of using mtDNA diversity to infer species population sizes. Here we use Bayesian coalescent inference methods, together with a global dataset of 357 human mtDNA coding region sequences, to infer human population sizes through time across eight major geographic regions. Our estimates of relative population sizes show remarkable concordance with the contemporary regional distribution of humans across Africa, Eurasia and the Americas, indicating that mtDNA diversity is a good predictor of population size in humans. Plots of population size through time show slow growth in sub-Saharan Africa beginning 143-193kya, followed by a rapid expansion into Eurasia after the emergence of the first non-African mtDNA lineages 50-70kya. Outside Africa, the earliest and fastest growth is inferred in Southern Asia ~52kya, followed by a succession of growth phases in Northern and Central Asia (~49kya), Australia (~48kya), Europe (~42kya), the Middle East and North Africa (~40kya), New Guinea (~39kya), the Americas (~18kya), and a second expansion in Europe (~10-15kya). Comparisons of relative regional population sizes through time suggest that between approximately 45kya and 20kya most of humanity lived in Southern Asia. These findings not only support the use of mtDNA data for estimating human population size but also provide a unique picture of human prehistory and demonstrate the importance of Southern Asia to our recent evolutionary past.


Y chromosomes and mtDNA in African farmers and hunter-gatherers

Molecular Biology and Evolution, doi:10.1093/molbev/msm279

Contrasting Signatures of Population Growth for Mitochondrial DNA and Y Chromosomes among Human Populations in Africa

Maya Metni Pilkington et al.

A history of Pleistocene population expansion has been inferred from the frequency spectrum of polymorphism in the mitochondrial DNA (mtDNA) of many human populations. Similar patterns are not typically observed for autosomal and X-linked loci. One explanation for this discrepancy is a recent population bottleneck, with different rates of recovery for haploid and autosomal loci as a result of their different effective population sizes. This hypothesis predicts that mitochondrial and Y chromosomal DNA will show a similar skew in the frequency spectrum in populations that have experienced a recent increase in effective population size. We test this hypothesis by re-sequencing 6.6 kb of non-coding Y chromosomal DNA and 780 basepairs of the mtDNA cytochrome c oxidase subunit III (COIII) gene in 172 males from five African populations. Four tests of population expansion are employed for each locus in each population: Fu's Fs statistic, the R2 statistic, coalescent simulations and the mismatch distribution. Consistent with previous results, patterns of mtDNA polymorphism better fit a model of constant population size for food-gathering populations and a model of population expansion for food-producing populations. In contrast, none of the tests reveal evidence of Y chromosome growth for either food-gatherers or food-producers. The distinct mtDNA and Y chromosome polymorphism patterns most likely reflect sex-biased demographic processes in the recent history of African populations. We hypothesize that males experienced smaller effective population sizes and/or lower rates of migration during the Bantu expansion, which occurred over the last five thousand years.


December 16, 2007

mtDNA haplogroups of indigenous Mexican populations

Hum Biol. 2007 Jun;79(3):313-20.

Characterization of mtDNA haplogroups in 14 Mexican indigenous populations.

Peñaloza-Espinosa RI, Arenas-Aranda D, Cerda-Flores RM, Buentello-Malo L, González-Valencia G, Torres J, Alvarez B, Mendoza I, Flores M, Sandoval L, Loeza F, Ramos I, Muñoz L, Salamanca F.

In this descriptive study we investigated the genetic structure of 513 Mexican indigenous subjects grouped in 14 populations (Mixteca-Alta, Mixteca-Baja, Otomi, Purépecha, Tzeltal, Tarahumara, Huichol, Nahua-Atocpan, Nahua-Xochimilco, Nahua-Zitlala, Nahua-Chilacachapa, Nahua-Ixhuatlancillo, Nahua-Necoxtla, and Nahua-Coyolillo) based on mtDNA haplogroups. These communities are geographically and culturally isolated; parents and grandparents were born in the community. Our data show that 98.6% of the mtDNA was distributed in haplogroups A1, A2, B1, B2, C1, C2, D1, and D2. Haplotype X6 was present in the Tarahumara (1/53) and Huichol (3/15), and haplotype L was present in the Nahua-Coyolillo (3/38). The first two principal components accounted for 95.9% of the total variation in the sample. The mtDNA haplogroup frequencies in the Purépecha and Zitlala were intermediate to cluster 1 (Otomi, Nahua-Ixhuatlancillo, Nahua-Xochimilco, Mixteca-Baja, and Tzeltal) and cluster 2 (Nahua-Necoxtla, Nahua-Atocpan, and Nahua-Chilacachapa). The Huichol, Tarahumara, Mixteca-Alta, and Nahua-Coyolillo were separated from the rest of the populations. According to these findings, the distribution of mtDNA haplogroups found in Mexican indigenous groups is similar to other Amerindian haplogroups, except for the African haplogroup found in one population.


December 14, 2007

Hawks et al. paper on accelerated recent human evolution

I would love to have blogged about this paper, but John explains it so clearly in this post that any additional comments are superfluous.

In any case, here are my €0.02: The paper has a simple but powerful idea: that really useful mutations are more likely to occur in large populations than in small ones: mutations are random accidents that happen in bodies; the more bodies you have, the more likely it is you'll get a really neat one.

All populations have the capacity to evolve by shifting around the frequencies of the different alleles in their gene pools. But, the kinds of alleles that evolution can work with are not the same. Large populations have a greater repertoire of alleles to work with.

But, some species with really huge numbers don't really evolve that fast. This is because they have already reached an adaptive plateau; they are already well-suited to their environments and don't face large selection pressures.

New challenging environments + growing population = accelerated human evolution.

Recent acceleration of human adaptive evolution

John Hawks, Eric T. Wang, Gregory Cochran, Henry C. Harpending, and Robert K. Moyzis

Genomic surveys in humans identify a large amount of recent positive selection. Using the 3.9-million HapMap SNP dataset, we found that selection has accelerated greatly during the last 40,000 years. We tested the null hypothesis that the observed age distribution of recent positively selected linkage blocks is consistent with a constant rate of adaptive substitution during human evolution. We show that a constant rate high enough to explain the number of recently selected variants would predict (i) site heterozygosity at least 10-fold lower than is observed in humans, (ii) a strong relationship of heterozygosity and local recombination rate, which is not observed in humans, (iii) an implausibly high number of adaptive substitutions between humans and chimpanzees, and (iv) nearly 100 times the observed number of high-frequency linkage disequilibrium blocks. Larger populations generate more new selected mutations, and we show the consistency of the observed data with the historical pattern of human population growth. We consider human demographic growth to be linked with past changes in human cultures and ecologies. Both processes have contributed to the extraordinarily rapid recent genetic evolution of our species.

Tracing Human Migrations with Y chromosomes and mtDNA (new Underhill/Kivisild paper)

This is a very important review paper which is a must-read for anyone interested in human population history. The new results allued in the abstract involve the discovery of the CF and DE clades, which the authors propose were involved in separate Out-of-Africa founder events. Previously, with the exception of the Paleoafrican Y-chromosome clades A and B, all other human Y chromosomes fell into three separate clades C, DE (also known as YAP), and F. Now, C and F are shown to be united by a common ancestory into a new clade CF.

Annu Rev Genet. 2007 Dec 1;41:539-564.

Use of Y Chromosome and Mitochondrial DNA Population Structure in Tracing Human Migrations.
Underhill PA, Kivisild T.

Well-resolved molecular gene trees illustrate the concept of descent with modification and exhibit the opposing processes of drift and migration, both of which influence population structure. Phylogenies of the maternally inherited mtDNA genome and the paternally inherited portion of the nonrecombining Y chromosome retain sequential records of the accumulation of genetic diversity. Although knowledge regarding the diversity of the entire human genome will be needed to completely characterize human genetic evolution, these uniparentally inherited loci are unique indicators of gender in modulating the extant population structure. We compare and contrast these loci for patterns of continuity and discreteness and discuss how their phylogenetic diversity and progression provide means to disentangle ancient colonization events by pioneering migrants from subsequent overlying migrations. We introduce new results concerning Y chromosome founder haplogroups C, DE, and F that resolve their previous trifurcation and improve the harmony with the mtDNA recapitulation of the out-of-Africa migration.


Human population sizes, divergence times and rates of gene flow

Genetics. 2007 Dec;177(4):2195-207.

Inferring human population sizes, divergence times and rates of gene flow from mitochondrial, x and y chromosome resequencing data.

Garrigan D, Kingan SB, Pilkington MM, Wilder JA, Cox MP, Soodyall H, Strassmann B, Destro-Bisol G, de Knijff P, Novelletto A, Friedlaender J, Hammer MF.

We estimate parameters of a general isolation-with-migration model using resequence data from mitochondrial DNA (mtDNA), the Y chromosome, and two loci on the X chromosome in samples of 25-50 individuals from each of 10 human populations. Application of a coalescent-based Markov chain Monte Carlo technique allows simultaneous inference of divergence times, rates of gene flow, as well as changes in effective population size. Results from comparisons between sub-Saharan African and Eurasian populations estimate that 1500 individuals founded the ancestral Eurasian population approximately 40 thousand years ago (KYA). Furthermore, these small Eurasian founding populations appear to have grown much more dramatically than either African or Oceanian populations. Analyses of sub-Saharan African populations provide little evidence for a history of population bottlenecks and suggest that they began diverging from one another upward of 50 KYA. We surmise that ancestral African populations had already been geographically structured prior to the founding of ancestral Eurasian populations. African populations are shown to experience low levels of mitochondrial DNA gene flow, but high levels of Y chromosome gene flow. In particular, Y chromosome gene flow appears to be asymmetric, i.e., from the Bantu-speaking population into other African populations. Conversely, mitochondrial gene flow is more extensive between non-African populations, but appears to be absent between European and Asian populations.


December 02, 2007

ASHG 2007 abstracts

You can get the 656-page volume of abstracts (pdf) of this year's American Society of Human Genetics meeting. Some titles/abstracts that caught my eye.

A. Rosa et al.

Mitochondrial haplogroup H1 is protective for stroke.

S. Sharma et al.

The Autochthonous Origin and a Tribal Link of Indian Brahmins: Evaluation Through Molecular Genetic Markers

The co-existence and associated genetic evidences for the major rival models: i) recent Central Asian introduction of Indian caste system, ii) rank related west Eurasian admixture, iii) South Asian origin for Indian caste communities, and iv) late Pleistocene heritage of tribal and caste populations, leave the question of the origin of caste system in India hazy and obscure. To resolve the issue, we screened 621 Y-chromosomes (of Brahmins, occupying upper most caste position and Dalits and Tribals with the lower most positions in the Indian caste hierarchical system) with fifty-five Y-chromosomal binary markers and Y-microsatellite markers and compiled a data set of 2809 Y-chromosomes (681 Brahmins, 2128 Tribals and Dalits) for conclusions. Overall, no consistent difference was observed in Y-haplogroups distribution between Brahmins, Dalits and Tribals, except for some differences confined to a given geographical region. A peculiar observation of highest frequency (upto 72.22%) of Y-haplogroups R1a1* in Brahmins, hinted at its presence as a founder lineage for this caste group. The widespread distribution and high frequency across Eurasia and Central Asia of R1a1* as well as scanty representation of its ancestral (R*, R1* and R1a*) and derived lineages across the region has kept the origin of this haplogroup unresolved. The analyses of a pooled dataset of 530 Indians, 224 Pakistanis and 276 Central Asians and Eurasians, bearing R1a1* haplogroup resolved the controversy of origin of R1a1*. The conclusion was drawn on the basis of: i) presence of this haplogroup in many of the tribal populations such as, Saharia (present study) and Chenchu tribe in high frequency, ii) the highest ever reported presence of R1a* (ancestral haplogroup of R1a1*) in Kashmiri Pandits (Brahmins) and Saharia tribe, and iii) associated averaged phylogenetic ages of R1a* (~18,478 years) and R1a1* (~13,768 years) in India. The study supported the autochthonous origin of R1a1 lineage and a tribal link to Indian Brahmins.

Population structure in Sweden - A Y-chromosomal and mitochondrial DNA analysis.

T. Lappalainen et al.

A population sample representing the current Swedish population was analyzed for both maternally and paternally inherited markers with the aim of characterizing the genetic variation and structure of a modern North European population. We genotyped 12 Y-chromosomal and 27 mitochondrial DNA SNPs from DNA extracted and amplified from Guthrie cards of all the children born in Sweden during one week in 2003. The sample set consisted of 1914 samples (960 males) grouped according to place of birth. The ancient migration patterns are reflected in the clear north-south gradients in several palaeolithic and neolithic haplogroups in the mtDNA (U5, I, K, T, X) and the Y chromosome (R1b, N3). The haplogroup frequencies of the counties closest to Finland and Norway showed clear associations to the neighboring populations, resulting from the formation of the nations during the past millennium. Moreover, the recent immigration waves of the 20th century are visible both maternally and paternally, and have led to increased diversity and divergence from the main population in the major cities. Unfavorable population development in the ancient or recent past can be detected in several remote counties with low diversities and other signs of low population size and/or population crises. In conclusion, our study yielded valuable information about the various factors affecting the structure of the modern Swedish population that is vital for the use of the population in large population-based studies. Our sampling strategy, nonselective on the current population rather than stratified according to ancestry, represents the future of genetic studies in the increasingly panmictic populations of the world.

Relic Distribution of Y-Chromosome Haplogroup D Suggests Ancient Paleolithic Migration of Modern Humans in Eastern Asia.

H. Shi et al.

The Y chromosome haplogroup D is East Asian specific and prevalent in Tibetan and Japanese populations (30%-40%), but rare in other East Asian populations (<5%). We analyzed 5,174 Y chromosomes from 74 East Asian populations by typing haplogroup D related SNPs and eight Y chromosome microsatellite loci. We identified six sublineages under haplogroup D, and their distribution across East Asia suggested an ancient Paleolithic south-to-north migration, which likely predates the previously proposed northward diaspora of modern humans (reflected by the dominant occurrence of O3-M122 in East Asians) resulting in current relic distribution of haplogroup D in East Asia.

E. Marchani et al. Culture creates genetic structure in Daghestan.

M. Coelho et al. On the edge of the Bantu expansions: patterns of mtDNA and Y-chromosome variation in southwestern Angola.

J.S. Friedlaender et al. The genetic structure of Pacific Islanders.

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

Gospel of Judas revisited

April D. Deconick in the New York Times:
AMID much publicity last year, the National Geographic Society announced that a lost 3rd-century religious text had been found, the Gospel of Judas Iscariot. The shocker: Judas didn’t betray Jesus. Instead, Jesus asked Judas, his most trusted and beloved disciple, to hand him over to be killed. Judas’s reward? Ascent to heaven and exaltation above the other disciples.

It was a great story. Unfortunately, after re-translating the society’s transcription of the Coptic text, I have found that the actual meaning is vastly different. While National Geographic’s translation supported the provocative interpretation of Judas as a hero, a more careful reading makes clear that Judas is not only no hero, he is a demon.


So what does the Gospel of Judas really say? It says that Judas is a specific demon called the “Thirteenth.” In certain Gnostic traditions, this is the given name of the king of demons — an entity known as Ialdabaoth who lives in the 13th realm above the earth. Judas is his human alter ego, his undercover agent in the world. These Gnostics equated Ialdabaoth with the Hebrew Yahweh, whom they saw as a jealous and wrathful deity and an opponent of the supreme God whom Jesus came to earth to reveal.


I have wondered why so many scholars and writers have been inspired by the National Geographic version of the Gospel of Judas. I think it may stem from an understandable desire to reform the relationship between Jews and Christians. Judas is a frightening character. For Christians, he is the one who had it all and yet betrayed God to his death for a few coins. For Jews, he is the man whose story was used by Christians to persecute them for centuries. Although we should continue to work toward a reconciliation of this ancient schism, manufacturing a hero Judas is not the answer.

December 01, 2007

Ancient mtDNA from Iron Age Denmark

Am J Phys Anthropol. 2007 Nov 28 [Epub ahead of print]

Rare mtDNA haplogroups and genetic differences in rich and poor Danish Iron-Age villages.

Melchior L, Gilbert MT, Kivisild T, Lynnerup N, Dissing J.

The Roman Iron-Age (0-400 AD) in Southern Scandinavia was a formative period, where the society changed from archaic chiefdoms to a true state formation, and the population composition has likely changed in this period due to immigrants from Middle Scandinavia. We have analyzed mtDNA from 22 individuals from two different types of settlements, Bøgebjerggård and Skovgaarde, in Southern Denmark. Bøgebjerggård (ca. 0 AD) represents the lowest level of free, but poor farmers, whereas Skovgaarde 8 km to the east (ca. 200-270 AD) represents the highest level of the society. Reproducible results were obtained for 18 subjects harboring 17 different haplotypes all compatible (in their character states) with the phylogenetic tree drawn from present day populations of Europe. This indicates that the South Scandinavian Roman Iron-Age population was as diverse as Europeans are today. Several of the haplogroups (R0a, U2, I) observed in Bøgebjerggård are rare in present day Scandinavians. Most significantly, R0a, harbored by a male, is a haplogroup frequent in East Africa and Arabia but virtually absent among modern Northern Europeans. We suggest that this subject was a soldier or a slave, or a descendant of a female slave, from Roman Legions stationed a few hundred kilometers to the south. In contrast, the haplotype distribution in the rich Skovgaarde shows similarity to that observed for modern Scandinavians, and the Bøgebjerggård and Skovgaarde population samples differ significantly (P approximately 0.01). Skovgaarde may represent a new upper-class formed by migrants from Middle Scandinavia bringing with them Scandinavian haplogroups.