ISABS 2013 abstracts

From the book of abstracts (pdf):

MITOCHONDRIAL DNA AND PHYLOGENETIC ANALYSIS OF PREHISTORIC NORTH AFRICAN POPULATIONS

North Africa is located at a crossroad between Europe, Africa and Asia and has been inhabited since the Prehistoric time. In the Epipaleolithic period (23.000 years to 10.000 years BP), the Western North Africa has been occupied by Mecha- Afalou Men, authors of the Iberomaurusian industry. The origin of the Iberomaurusians is unresolved, several hypotheses have been forwarded. With the aim to contribute to a better knowledge of the Iberomaurusian settlement we analysed the mitochondrial DNA (mtDNA) of skeletons exhumed from the prehistoric site of Taforalt in Morocco (23.000-10.800 years BP) and Afalou in Algeria (11.000 to 15.000 BP -Algeria). Hypervariable segment 1 of mtDNA from 38 individuals were amplified by Real-Time PCR and directly sequenced. Sequences were aligned with the reference sequence to perform the mtDNA classification within haplogroups. Phylogenetic analysis based on mitochondrial sequences from Mediterranean populations was performed using Neighbor-Joining algorithm implemented in MEGA program. mtDNA sequences from Afalou and Taforalt were classified in Eurasiatic and North African haplogroups. We noted the absence of Sub-Saharan haplotypes. Phylogenetic tree clustered Taforalt with European populations. Our results excluded the hypothesis of the sub-Saharan origin of Iberomaurusians populations and highlighted the genetic flow between Northern and Southern cost of Mediterranean since Epipaleolithic period.

DISCONTINUITY SCREENING OF THE EARLY FARMERS’ MT-DNA LINEAGES IN THE CARPATHIAN BASIN

Discontinuous mitochondrial (mt) haplotype data between Central-Europe’s first farmers and contemporary Europeans have been described before. Hungary was a key-area of the Neolithisation, in the route of Neolithisation following the River Danube, and that was also the birthplace of the Linear Pottery Culture, which later colonised Western and Northern Europe. Neolithic and post-Neolithic human remains as well as contemporary population of Hungary is involved in our project to gain information on their mt-haplotype pattern and especially on the frequency of Asian haplotypes in the Carpathian Basin. HVS-I sequences from nt15977 to nt16430 of Neolithic specimens with sufficient mtDNA preservation among an extended Neolithic collection were analysed for polymorphisms, identifying 23 different ones. A novel, N9a, N1a, C5, D1/G1a, M/R24 haplogroups were determined among the pre-industrial Hungarians. The presence of Asian haplotypes in the ancient populations must be taken into consideration when reconstructing the population history of Europe and Asia, so a survey of the recent Asian haplotype frequency in Europe is unavoidable. The ancient and recent haplotype pattern of Hungary is definitely worth further investigation to test a theory on the continuous population history of Europe, wheter genetic gaps between ancient and recent human populations of Europe were more likely to be detected. 

ANTHROPOLOGIC AND MITOCHONDRIAL DNA ANALYSIS OF A MEDIEVAL GRAVEYARD FROM SOPOT (CROATIA)

Anthropologic and DNA analysis of human remains recovered from a graveyard in ©opot near Benkovac (Croatia) dating to the 14th/15th century was conducted in order to reconstruct the origin and life conditions of the people populating the region at that time. The dynamics of the population represented in this graveyard are important for understanding Croatian history because the deceased individuals were buried according to pagan ritual which was uncommon in a post Christianization period. Human remains from a total of 31 graves were analyzed, in which 47 individuals were found (9 female, 23 male and 15 children). Average age at death for adults was lower than expected (for female 28.9, male 32.4 years), suggesting that the living conditions of these individuals were poor. In addition, 10 antemortem traumas were visible on 6 adults, which is a higher rate than expected, and indicates potential violence within the population group. Finally, mitochondrial DNA (mtDNA) analysis was performed on hypervariable regions one and two for 46 of the individuals. Due to the age and condition of the remains, only 19 of the samples yielded full sequence profiles. Haplogroup analysis was performed for these 19 individuals, with the majority of the results falling within the most common groups in present-day Croatia. However, examination of the lesscommon haplogroups suggested a possible migration of individuals from Asia. Collectively, the physical and molecular results from this study provide evidence to suggest that individuals recovered from this gravesite are not from the current indigenous population.

MATERNAL GENETIC PROFILE OF A NORTHWEST ALGERIAN POPULATION

The North African population gene pool based on mitochondrial DNA (mtDNA) polymorphisms has been shaped by the back-migration of several Eurasian lineages in Paleolithic and Neolithic times. Recent influences from sub-Saharan Africa and Mediterranean Europe are also evident. The presence of East-West and North- South haplogroup frequency gradients strongly reinforces the genetic complexity of this region. However, this genetic scenario is beset with a notable gap, which is the lack of consistent information for Algeria, the largest country in the continent. To fill this gap, we analyzed a sample of 240 unrelated subjects from a northwest Algeria cosmopolitan population. mtDNA sequences analysis was performed on the regulatory hypervariable segment I region (HVSI). Haplogroup diagnostic mutations were analyzed using PCR-RFLPs and/or SNaPshot multiplex reactions. Of all North African populations, Eurasian lineages are the most frequent in Algeria (80%) while sub-Saharan Africa origin accounts for the remaining (20%). Within them, the North African genetic component U6 and M1 count for 20%. Indeed, the U6 haplogroup, highly distributed in Northwestern African populations, show a high frequency in Algeria (11.83%), while, the M1 frequency (7.1%) raises an anomalous peak in its decreasing Northeast - Northwest gradient. Moreover, the high frequency of HV subgroups (38.33%) point to direct maritime contacts between the European and North African western sides of the Mediterranean. Besides, the most common western H subgroups, H1 (47.8%) and H3 (10.1%), represent 60% of H lineages. These frequencies and HV0 (7.5%) lie well within the observed Northwestern to Northeastern African decreasing gradients.

MATERNAL GENETIC VARIATION OF THE SLOVENIAN POPULATION IN A BROADER EUROPEAN CONTEXT AND COMPARED TO ITS PATERNAL COUNTERPART

Slovenia is a European country situated at the crossroads of main European cultural and trade routes. It is geographically more linked to Central Europe, but history draws it closer together to its ex-Yugoslavian, Southeast European (SEE) neighbors. Slovenian maternal heritage has not been analyzed since 2003 and our aim was to analyze SNP markers of 97 Slovenian mtDNAs in high resolution to see where this population fits according to its maternal genetic variation. We compared the Slovenian sample with the neighboring SEE populations, as well as with other published European population datasets. Also, we compared the obtained mtDNA variation results with the available Slovenian Y chromosome data to see how these two uniparental marker systems correspond to each other. In the PC plot based on mtDNA haplogroups frequencies, Slovenian population has an outlying position mostly due to the increased prevalence of J (14.4%) and T (15.4%) clade and especially because of the abundance and diversity of J1c samples in Slovenia, represented with 8 haplotypes and in a percentage of >11%. Although in an outlying position, Slovenian mtDNA variation still shows a certain degree of affinity to SEE. On the contrary, Slovenia’s paternal genetic heritage yielded results that correspond to the population’s geographic location and groups Slovenian population considerably closer to Central European countries, based on increased prevalence of Northern/Central European R1a-M198 and decreased frequency of Balkan-specific I2a2-M423. Such differences in maternal and paternal marker systems could indicate that Slovenian genetic variation was influenced by sex-biased demographic events.

AN ASIAN TRACE IN THE GENETIC HERITAGE OF THE EASTERN ADRIATIC ISLAND OF HVAR

The Island of Hvar is situated in the central eastern Adriatic, and its relatively small rural population has been reproductively isolated thought history. Therefore, founder effects, genetic drift and inbreeding have had significant role in the shaping of current genetic diversity of Hvar Islanders. We analyzed Y-chromosome SNP markers of 412 Hvar islanders in high resolution, with the aim to investigate the current paternal genetic diversity. We found a relatively high frequency (6.1%) of unrelated male samples belonging to the Q*-M424 haplogroup, which is unusual for European populations. Interestingly, a previous study showed 9 individuals from Hvar with mitochondrial haplogroup F, which is almost absent in Europe. Both findings could indicate a certain connection with Asian populations, where these haplogroups are most common. This might be a result of several migratory events in the history, one of which could be linked to the ancient Silk Road, the other a consequence of the arrival of the Slavs, following the Avars, to the eastern Adriatic in the 6th century or due to the expansion of the Ottoman Empire in 16th to 18th century. The presence of these rare mitochondrial and Y-chromosome lineages are an example of founder effect and random genetic drift which, in this small island with a high degree of isolation and endogamy, had a strong impact on shaping the genetic diversity of the population. 

GENETIC PORTRAIT OF THE BESERMYAN ETHNIC GROUP BASED ON MTDNA HAPLOGROUP STUDY

Besermyan are a small ethnic group living in the Volga-Ural region of Russia. They belong to Finno-Ugric language group, but speak a special dialect. There are some Bulgar-Chuvash borrowings in their adverb vocabulary that are absent in other dialects of the Udmurt language. Besermyan live in the northwestern part of modern Udmurtia in the Cheptsa basin. In 2002 their number was about three thousand. The Besermyan origin is a very interesting issue. There is a view that the endonym Besermyan (beserman) is derived from the Turkic word which means flMuslim« in Arabic. This hypothesis, along with their language, hints at the origin of this ethnic group; however the genetic portrait of Besermyan has not been described yet. In our study we used the data of mitochondrial DNA (mtDNA) HVSI sequencing from 98 Besermyans representing 10 villages in Udmurtia Republic of Russia. The prevalence of Western Eurasian mtDNA lineages (91.7%) over Eastern Eurasian ones (9.2%) was shown in the studied population which is consistent with the structure of mtDNA pool of Finno-Ugric ethnic groups of the Volga-Ural region. Some Eastern Eurasian lineages in Besermyan are represented by haplogroups D4b, A4b and Z1a which are also common in Udmurts. It is important to note though that the share of Western Eurasian component in Udmurts according to previous study by Bermisheva et al. (2002) is about 74.5% so mtDNA haplogroup distribution in Besermyans is closer to other Finno-Ugric people of the Volga-Ural region: Mordvins and Maris.

COSMOPOLITAN CENTRAL ASIA: TAJIK MTDNA TRACES THE EASTWEST MOVEMENT OF ANCIENT NOMADS 

Tajikistan is a country in the mountains of southeast Central Asia. Due to its isolation, mtDNA variation in the Tajiks has been fragmentary studied on a limited number of samples. In 1997 saliva samples were collected from unrelated Tajiks across Tajikistan. After long-term preservation DNA was extracted from 2 mm FTA discs. Due to degradation mtDNA was amplified using the primary and secondary PCRs with nested primers in the multiplex format. The origin of 91 mitochondrial genomes from Tajikistan traced from western Eurasia (62.6%), eastern Eurasia (25.3%), south Asia (11.0%), and North Africa (1.1%). Significant population structure in the distribution of these mtDNA lineages was revealed within the regional groups in Tajikistan. The mtDNA variation was compared between the Tajiks and 45 populations of Eurasia. Pairwise Fst comparisons and the correspondence analysis revealed non-significant differences between the Tajik and Uzbek populations. Although both nations speak languages belonging to different linguistic groups, this result corresponds to their cultural and economic proximity. Surprisingly, after the Uzbeks, the Tajik mtDNA pool most closely resembles to the Ossetians, an Indo-Iranian people from the North Caucasus. The Tajiks also display intensive gene flow and admixture with some other populations of Central Asia and the Iranian Plateau living along the centers and crossroads of the earliest civilizations and belonging to different linguistic groups including the Uyghur, Kazakh, Karakalpak, Turkmen, Pathans, Iranian Arabs, and Gilaki. This study demonstrates an impact of ancient nomad migrations and invasions on the distribution of mtDNA variation in Eurasia. 

Y chromosomes in Iranians and Tajiks (Malyarchuk et al. 2013)

An interesting paper on Iranian and Tajik Y chromosomes. Iranian Y chromosomes were comprehensively studied by Grugni et al. but it is always good to have additional samples.

I have mentioned before the apparent distinction between west and east Iranians in terms of haplogroup J/R1a frequencies, with high ratios in Persians and Kurds, and low ones in Pathans, and this seems to be reinforced here; the Tajiks are speakers of Persian (hence "western") but trace their ancestry to the east of the modern country of Iran, and in-between Persians and eastern Iranians.

The absence of R1a in this Kurdish sample, coupled with high J frequency parallels the situation in the Kurdish Anatolian settlement studied by Gokcument et al., as well as the Georgian Kurmanji sample studied by Nasidze et al. On the other hand, R1a is present in the Kurmanji samples from Turkey and Turkmenistan in the latter study, as well as in the aforementioned Kurdish sample from Iran by Grugni et al. and the Kurdish sample from Turkmenistan studied by Wells et al. I'd say that there is potential variation of this haplogroup within Kurdish groups, which might be worth further exploration.

It would also be very interesting to study the haplogroup I chromosomes from this region. Do they represent historical introgression from Europe, or are they, perhaps, local basal clades that reinforce the idea of a relic distribution of I in West Asia, prior to the migration into Europe, that was recently suggested by the discovery of IJ* chromosomes in Iran by Grugni et al.?

Annals of Human Biology, 2013; Early Online: 1–7

Y-chromosome variation in Tajiks and Iranians

Boris Malyarchuk et al.

Aim: The purpose of this study was to characterize Y-chromosome diversity in Tajiks from Tajikistan and in Persians and Kurds from Iran.

Method: Y-chromosome haplotypes were identified in 40 Tajiks, 77 Persians and 25 Kurds, using 12 short tandem repeats (STR) and 18 binary markers.

Results: High genetic diversity was observed in the populations studied. Six of 12 haplogroups were common in Persians, Kurds and Tajiks, but only three haplogroups (G-M201, J-12f2 and L-M20) were the most frequent in all populations, comprising together 60% of the Y-chromosomes in the pooled data set. Analysis of genetic distances between Y-STR haplotypes revealed that the Kurds showed a great distance to the Iranian-speaking populations of Iran, Afghanistan and Tajikistan. The presence of Indian-specific haplogroups L-M20, H1-M52 and R2a-M124 in both Tajik samples from Afghanistan and Tajikistan demonstrates an apparent genetic affinity between Tajiks from these two regions.

Conclusions: Despite the marked similarities between Y-chromosome gene pools of Iranian-speaking populations, there are differences between them, defined by many factors, including geographic and linguistic relationships.

Link

U7 in Rostov Scythians

I found it quite interesting that in terms of mtDNA, the Rostov Scythians studied by der Sarkissian resembled closely the Shugnans of Tajikistan, who speak an eastern Iranian language. The author finds links between the Scythians and the "Central Asian Corridor", in particular with respect to mtDNA haplogroup U7.

This "Central Asian Corridor" sensu der Sarkissian (Iraq, Iran, Pakistan, India) seems to touch Frachetti's Inner Asian Mountain Corridor (shown below) in the region of the Pamirs.

Interestingly, the Sughnans belong, anthropologically to the Pamir-Ferghana type, which was also called Central Asian interfluvial type, the rivers in question being the Oxus and Jaxartes (Amu Darya and Syr Darya). And, of course, between these two rivers was the heartland of the Bactria Margiana Archaeological Complex, which I have previously linked with the Indo-Iranians.

Wells et al. studied Y-chromosomes of Sughnans, Yagnobis and other Iranic survivals of Tajikistan more than 10 years ago, and it will be very well worth revisiting them with newer methods. The area east of the Caspian and west of the IAMC intersects so much history, that any data from from it (new or ancient) would be extremely useful.

In my own experiments there has been an unambiguous "South Asian" genetic component in almost all Iranic peoples, even the westernmost Kurds. While the interpretation of this component is not easy, it does point to a genetic relationship between its possessors and Central/South Asia, with notable contrasts between Kurds/Iranians and their non-Iranic Armenian/Anatolian/Caucasian neighbors.

The occurrence of mtDNA haplogroup U7 in the Rostov Scythians is also consistent with a link between the Iranian nomads who penetrated into Europe with the area east of the Caspian, and it is also, of course, consistent with the narrative of Herodotus who recorded the migration of the Scythians into Europe.

There is a widely held theory that the origin of the Indo-Iranians are to be sought in eastern Europe. That theory appears inconsistent both with the "South Asian" autosomal signal in Iranic groups, and with the mtDNA evidence. Consider, again, the evidence of der Sarkissian:

Now, if Rostov Scythians were primarily descended from Mesolithic West Eurasians or even Bronze Age ones, then we would expect them to cluster at the "top", approaching the northern Europeoid extrema of PWC and Bronze Age Altai (ALT-BA). On the contrary, their position is well to the "south" of all European Bronze Age groups, and intermediate between Europeans and Iron Age Asian groups from south Siberia and Kazakhstan (KUR-IA, KAZ-IA). Again, this is compatible with an east-west migration during the Iron Age.

It might be worth speculating on the possible autosomal history of the steppe, for which the mtDNA evidence complements others: I offer that the long-term trend will be one of diminishing "North European", increasing "West Asian" and "East Eurasian" influences across the Neolithic-Bronze-Iron Age boundaries. At the western end of the steppe, there may also be "Mediterranean"/Sardinian-like infusions from the Balkans and Central Europe, although these clearly did not influence Inner/South Asia (where Mediterranean components shrink to non-existence), and Europe proper was mostly the recipient rather than the emitter of populations to Asia. Hopefully, autosomal data to test this conjecture will be made available in the coming years.

mtDNA variation in Uzbekistan

Int J Legal Med DOI 10.1007/s00414-009-0406-z

The mtDNA composition of Uzbekistan: a microcosm of Central Asian patterns

Jodi A. Irwin et al.

Abstract

In order to better characterize and understand the mtDNA population genetics of Central Asia, the mtDNA control regions of over 1,500 individuals from Uzbekistan
have been sequenced. Although all samples were obtained from individuals residing in Uzbekistan, individuals with direct ancestry from neighboring Central Asian countries are included. Individuals of Uzbek ancestry represent five distinct geographic regions of Uzbekistan: Fergana, Karakalpakstan, Khorezm, Qashkadarya, and Tashkent. Individuals with direct ancestry in nearby countries originate from Kazakhstan, Kyrgyzstan, Russia, Afghanistan, Turkmenistan, and Tajikistan. Our data reinforce the evidence of distinct clinal patterns that have been described among Central Asian populations with classical, mtDNA, and Y-chromosomal markers. Our data also reveal hallmarks of recent demographic events. Despite their current close geographic proximity, the populations with ancestry in neighboring countries show little sign of admixture and retain the primary mtDNA patterns of their source populations. The genetic distances and haplogroup distributions among the ethnic populations are more indicative of a broad east–west cline among their source populations than of their relatively small geographic distances from one another in Uzbekistan. Given the significant mtDNA heterogeneity detected, our results emphasize the need for heightened caution in the forensic interpretation of mtDNA data in regions as historically rich and genetically diverse as Central Asia.

Link

mtDNA of Uzbekistan

International Journal of Legal Medicine doi:10.1007/s00414-009-0406-z

The mtDNA composition of Uzbekistan: a microcosm of Central Asian patterns

Jodi A. Irwin et al.

Abstract

In order to better characterize and understand the mtDNA population genetics of Central Asia, the mtDNA control regions of over 1,500 individuals from Uzbekistan have been sequenced. Although all samples were obtained from individuals residing in Uzbekistan, individuals with direct ancestry from neighboring Central Asian countries are included. Individuals of Uzbek ancestry represent five distinct geographic regions of Uzbekistan: Fergana, Karakalpakstan, Khorezm, Qashkadarya, and Tashkent. Individuals with direct ancestry in nearby countries originate from Kazakhstan, Kyrgyzstan, Russia, Afghanistan, Turkmenistan, and Tajikistan. Our data reinforce the evidence of distinct clinal patterns that have been described among Central Asian populations with classical, mtDNA, and Y-chromosomal markers. Our data also reveal hallmarks of recent demographic events. Despite their current close geographic proximity, the populations with ancestry in neighboring countries show little sign of admixture and retain the primary mtDNA patterns of their source populations. The genetic distances and haplogroup distributions among the ethnic populations are more indicative of a broad east–west cline among their source populations than of their relatively small geographic distances from one another in Uzbekistan. Given the significant mtDNA heterogeneity detected, our results emphasize the need for heightened caution in the forensic interpretation of mtDNA data in regions as historically rich and genetically diverse as Central Asia.

Link

Y chromosomes and mtDNA of Central Asian Turkic and Iranian populations

Unfortunately this paper only studied 12 Y-STRs, reduced to 7 to compare them with previous studies. Moreover, as far as I can see, this data is not available in the journal website. ScienceDaily covers the paper with the totally unwarranted title of "No Such Thing As Ethnic Groups, Genetically Speaking, Researchers Say".

What this paper does show, as far as its limited marker set can, that some Turkic ethnic groups are aggregates of populations of unrelated origin, which is not particularly surprising. One has to look at the spread of Turks from Central Asia to Europe to see that the various "Turks" were usually opportunistic alliances of peoples of different stock. Perhaps these Central Asian ethnic groups will eventually be homogenized by continued in-group marriage.

This brings me to an important point of using genetic diversity to assess how long ago ethnic groups were formed. Some ethnic groups begin as homogeneous entities which become differentiated as they expand and undergo separate evolution/differential patterns of admixture in different localities. Other groups begin as heterogeneous groups of unrelated tribes that become united by some factor, e.g., the emergence of a strong king or dynasty around whom diverse peoples aggregate. In the first case, ethnic evolution is one of diversification over time, as the genetic legacy of the homogeneous founders is fragmented; in the latter, it is one of homogenization, as the genetic legacies of the heterogeneous constituents merge to form a single homogeneous group. Thus, one can't generally conclude, by looking at within-group differentiation whether the group is "old" or "recent" in origin; it could be an old group that has fragmented over a long period of time, or a new one that has not had enough time to become one.

UPDATE (Sep 3):

The study is also covered at the Spittoon under the title New Study on Genetics of Ethnic Groups Reveals We May Not Be So Different After All. Unfortunately, the author of the blog post gets the linguistic divisions wrong:

The Turks are largely nomadic herders. They speak Indo-Iranian languages like Azerbaijani, Turkish, and Altay. Their society is organized into clans, or “descent groups,” whose membership is passed down from father to children.

The Tajiks are, conversely, agriculturalists. They speak various dialects of the the Tajik, or Tajik Persian, language that may have arrived with Muslim invaders 1,000 years ago. Their society is largely patrilocal – meaning that when couples marry they put up residence near the husband’s family; and first cousin marriages are encouraged.

It is of course the Turks who speak Turkic languages, and the Tajiks who speak an Indo-Iranian (or more precisely Iranian) language.

As for the title, which, like the ScienceDaily title, seems to burst at the seams with delight that ethnic differences don't exist, a better angle on the topic would be to observe how prevalent ethnic differences are, if they can exist even among populations that are genetically non-differentiated. The pipe dream of some thinkers, that increased inter-ethnic and inter-racial mating will lead to an abolition of ethnic and racial genetic differences, and, thus, to a happy co-existence of people around the world, is refuted by the finding that humans happily self-segregate themselves along ethnic lines, even when there are no underlying genetic differences.

BMC Genetics 2009, 10:49doi:10.1186/1471-2156-10-49

Genetic diversity and the emergence of ethnic groups in Central Asia

Evelyne Heyer et al.

Abstract

Background

In this study, we used genetic data that we collected in Central Asia, in addition to data from the literature, to understand better the origins of Central Asian groups at a fine-grained scale, and to assess how ethnicity influences the shaping of genetic differences in the human species. We assess the levels of genetic differentiation between ethnic groups on one hand and between populations of the same ethnic group on the other hand with mitochondrial and Ychromosomal data from several populations per ethnic group from the two major linguistic groups in Central Asia.

Results

Our results show that there are more differences between populations of the same ethnic group than between ethnic groups for the Y chromosome, whereas the opposite is observed for mtDNA in the Turkic group. This is not the case for Tajik populations belonging to the Indo-Iranian group where the mtDNA like the Y-chomosomal differentiation is also significant between populations within this ethnic group. Further, the Y-chromosomal analysis of genetic differentiation between populations belonging to the same ethnic group gives some estimation of the minimal age of these ethnic groups. This value is significantly higher than what is known from historical records for two of the groups and lends support to Barth's hypothesis by indicating that ethnicity, at least for these two groups, should be seen as a constructed social system maintaining genetic boundaries with other ethnic groups, rather than the outcome of common genetic ancestry

Conclusions

Our analysis of uniparental markers highlights in Central Asia the differences between Turkic and Indo-Iranian populations in their sex-specific differentiation and shows good congruence with anthropological data.

Link

Distribution of Genghis Khan's descendants

Genetika. 2007 Mar;43(3):422-6.

[Distribution of the male lineages of Genghis Khan's descendants in northern Eurasian populations]

[Article in Russian]

[No authors listed]

Data on the variation of 12 microsatellite loci of Y-chromosome haplogroup C3 were used to screen lineages included in the cluster of Genghis Khan's descendants in 18 northern Eurasian populations (Altaian Kazakhs, Altaians-Kizhi, Teleuts, Khakassians, Shorians, Tyvans, Todjins, Tofalars, Sojots, Buryats, Khamnigans, Evenks, Mongols, Kalmyks, Tajiks, Kurds, Persians, and Russians; the total sample size was 1437 people). The highest frequency of haplotypes from the cluster of the Genghis Khan's descendants was found in Mongols (34.8%). In Russia, this cluster was found in Altaian Kazakhs (8.3%), Altaians (3.4%), Buryats (2.3%), Tyvans (1.9%), and Kalmyks (1.7%).

Link

AAPA 2007 abstracts

The 2007 meeting of the American Association of Physical Anthropologists will be held in about a month. As in previous years, here are some interesting abstracts to be presented at the meeting (pdf).

(up to page 94)

Homo floresiensis Cranial and Mandibular Morphology
J.Y. Anderson, University of New Mexico
These results suggest the Flores material does not represent a population derived from Australomelanesians, and do not represent a non-pathological dwarfed population of Homo sapiens. These results do not completely rule out a representation of a microcephalic dwarfed population, at the same time it is suggested possible affinities to earlier hominin groups is equally parsimonious.

Do Qafzeh and Skhūl represent the ancestors of Upper Paleolithic modern humans? A dental perspective.
S.E. Bailey et al.
If these fossils represent the source of early Upper Paleolithic people, there is no need to invoke admixture with Neandertals to explain archaic dental features observed in some early Upper Paleolithic humans.

Ancient Cemetery Social Patterning Project: Ancient DNA in Tirup Cemetery.
L.E. Baker et al.

Reconstructing the settlement history of the central Andes from mitochondrial DNA analyses.
K. Batai et al.
We found that among central Andean ancient and modern population samples, haplogroup B frequencies increased through time, while haplogroup A frequencies declined. At this point, we do not yet have sufficient data to determine whether these patterns indicate different population histories between ancient coastal and modern highland populations, or a larger temporal trend in entire central Andes region

Analysis of Genetic Diversity in Ethnic Populations of Afghanistan
P. Bermudez et al.
The Middle East has the distinction of being a major crossroads of human migration. The genetic diversity of Afghanistan, however, has long remained a missing piece to this rich and complex puzzle. To explore both the diversity within Afghanistan and to understand the relative genetic contributions from various groups throughout the Eurasian continent, buccal swabs were collected from 252 unrelated Afghani men for mitochondrial DNA analysis. Each of these men hailed from
one of four major ethnic groups inhabiting the region: the Pashtun, Hazara, Tajik or
Nooristani. The Indo-Iranian speaking Pashtun represent the largest ethnic group in Afghanistan; the Tajiks have a complex genetic history that likely involves admixture between Turkic groups and smaller distinct ethnic groups within Afghanistan; the Hazara, on the other hand, are thought to represent remnants of Ghengis Khan’s army left behind as it expanded through Asia; and the Nooristani have biological links to populations in northern Pakistan and the
claim of descent from Alexander the Great’s army. All samples were analyzed for HVS1
and SNP variation. In all of these populations, Western Eurasian haplogroups (H, HV, R, J, I, U, X) were most common, with the highest frequency occurring in the Nooristanis, while the remaining East Eurasian haplogroups including D, G, and various other M types. The results of this study will be instrumental in expanding our knowledge of Afghani genetic history, in addition to broadening our understanding of population migrations throughout West and Central Asia.

Dental variation in Holocene Khoesan populations.
W. Black et al.

Are the Koh an indigenous population of the Hindu Kush? II: a dental morphology investigation.

S. Blaylock and B.E. Hemphill

Little is known about the population history of the ethnic groups in Chitral District, Pakistan, an area long been regarded as the “crossroads of Asia.” Some scholars emphasize that the Koh lifeway is the consequence of long-standing indigenous isolation. Others stress the equestrian
tradition among Koh villagers indicate they are descendants of Central Asians who emigrated across the Hindu Kush Mountains during the second millennium BC. To still others, an array of Persian linguistic inclusions indicates the Koh are more recent emigrants from the Iranian Plateau. This investigation tests these hypotheses for Koh origins through assessment of dental
morphology variations of the permanent dentition scored as 17 tooth-trait combination in accordance with the Arizona State University Dental Morphology System in a sample of 134 Kho school children from Chitral City. These data were contrasted with 17 additional samples. Comparisons are in two stages and include cluster analysis, multidimensional scaling and principal coordinates analysis. First, sex-pooled and sex-specific data compared Koh to six contemporary ethnic groups from India. Results indicate the Koh share equidistant affinities to Indo-European speaking west-Central Indian and Dravidianspeaking South Indian ethnic groups.
Second, sex-pooled data compared the Koh to 13 prehistoric samples from Neolithic to Early Iron Age sites located in the Indus Valley, Central Asia and the Iranian Plateau. Results indicate that the Koh share little affinity to prehistoric Indus Valley groups. Rather, the Koh share nearly equal affinities to prehistoric inhabitants of the Iranian Plateau and Central Asia.

A Howells grasp on prehistoric and recent Japan: A precursor to the Kennewick connection.
C. L. Brace, N. Seguchi.
Using many more samples, our results are compatible with what Howells showed for his Japanese comparisons, and,using the neighbor-joining technique, we can go on to show that Kennewick ties with the Ainu who are the descendants of the Jōmon.The Jōmon then are the probable ancestors of
the first inhabitants of the western hemisphere.

Admixture in Mexico City: implications for admixture mapping.
E. Cameron et al.
"The average proportions of Native American, European and West African admixture were estimated as 65%, 30% and 5% respectively."

"In a logistic model with higher educational status as dependent variable, the odds ratio for higher educational status associated with an increase from 0 to 1 in European admixture proportions was 9.4 (95% credible interval 3.8 – 22.6). This association of socioeconomic status with individual admixture proportion shows that genetic stratification in this population is
paralleled, and possibly maintained, by socioeconomic stratification."

Intracontinental Distribution of Haplotype Variation: Implications for Human Demographic History.
M.C. Campbell et al.
"These results suggest that diverse African populations were more subdivided with lower levels of gene flow during human history."

Social stratification in a Christian cemetery? An assessment of stress indicators and social status at Anglo-Saxon Raunds.
E.F. Craig, J.L. Buckberry
"The occurrence of statistically more individuals with both cribra orbitalia and tibial periostitis in plain graves rather than graves with stone arrangements, and LEH in plain graves rather than graves with a cover or marker, suggests that individuals buried in more elaborate graves enjoyed better levels of health and may been of higher social status than those buried in plain graves."

Variability of the Stature of the Central European Population from the Neolithic Age to Present
M. Dobisíková, S. Katina, P. Velemínský
The aim of our contribution is to characterize the changes of the stature in adult populations that have lived in Central Europe from the Neolithic period up to the present. Our sample consisted of 802 male and 704 female skeletons. The evaluation was conducted taking into account the demographic structure of the groups studied. We confronted the findings with the living
conditions of the populations known to have a significant impact on human stature, in
addition to genetic factors. We thus considered the socioeconomic status of the populations that might have influenced the quality of nutrition. We focused our attention on the socioeconomic aspect of populations of the early Middle Ages and the recent population. We compared socially higher placed part of the society with socially poorer classes (agricultural groups) (177 male, 178 female) in the early-medieval population of Great Moravia. No statistically significant
differences were found among individual social groups. To calculate the stature of last populations we used the regression equations developed by Breitiger (1937) and Bach (1965). The
calculation was based only on the length of the femur that is directly involved in body length. The impact of the secular trend was evaluated in the recent population. We compared two autopsy skeletal samples from the beginning and ends of the 20th century (107 male, 53 female). Statistically significant differences between them was found. Finally, we proposed regression equations for calculating the stature of the contemporary Czech population usable in forensic practice.

A phylogeographic analysis of haplogroup D5 and its implications for the peopling of East Asia.
M.C. Dulik
While genetic studies have focused on the Altai region of South Siberia as a possible place of origin for Native Americans, it is also possible that it played a similarly significant role in the peopling of East Asia. A Siberian connection to other East Asian populations has already been proposed based on archaeological, linguistic and classical genetic marker evidence. In this study, we examined a rare and ancient haplogroup, D5c, in an effort to elucidate early population movements in East Asia. Previous studies suggested that D5 first emerged in China and
spread northwards from there. However,given the number of D5c individuals (12) and the range of variation in D5 from the Altai region, it is conceivable that this haplogroup instead originated in South Siberia and spread from there during the initial movements of Paleolithic peoples. To est this hypothesis, we obtained complete mtDNA sequences for individuals represented by aplogroups D4 and D5 and acquired additional sequences available through GenBank and published literature. We then analyzed the entire dataset with the reduced median network approach and
phylogeographic modeling. Our results suggest that Southern Siberia did play a
critical role in the spread of the D5 haplogroup. This focus on relatively unique
mtDNA lineages specific to certain populations allowed us to better understand
the processes of ancient settlement and subsequent population movements that helped shape the current genetic landscape of East Asia.

More than meets the eye: LB1, the transforming hominin.
R.B. Eckhard et al.

LB1 is not a microcephalic.
D. Falk1 et al.

Is there biological meaning to “Hispanic” in New Mexico?
H.J.H. Edgar, C.M. Willermet

Establishing the nature of the differences between skull samples from two populations.
S.P. Evans et al.
A sample of 1188 skulls from the Romano-British site at Poundbury shows differences from the 18th century sample of 822 skulls from Spitalfields. Both sites are in the south of England, but 1400 years apart in time. The differences between the sites could be due to immigrations over time and/or to adaptation to the environment. The aim of the study was to establish the nature of the differences, in particular the relative importance of genetic and acquired traits.
Frequencies of 22 selected non-metric traits in juvenile, female and male skulls were analysed. Initial logistic regression analyses established that there was a substantial difference between the two sites and between juveniles and adults, with some sexual dimorphism. The modified mean
measure of divergence, used to calculate overall distances between the groups, showed the juvenile groups to be closer to each other than to adults from their respective sites. Across sites, males were most distant from each other. The largest distance was between Spitalfields juveniles and males. Principal coordinate analysis, followed by a jackknife stability analysis, revealed a pattern indicating that this came about through growth and adaptation. Omitting traits in turn, procrustes methods were used to identify the most influential, all of which
were acquired through ageing or lifestyle. Without these traits there was no significant
difference between the two juvenile groups and no sexual dimorphism. These results show the importance of the behavioural environment in determining morphology, and the resilience of populations to genetic change.

Peopling of the Pacific: resolving the controversy.
J.S. Friedlaender et al.
"Our survey of mitochondrial DNA, Ychromosome, and over 600 short tandem repeat polymorphisms and 200 insertiondeletions from over 40 Pacific populations indicates Polynesians have their genetic
origins to both Melanesian and Taiwanese (Southeast Asian) populations in significant degrees. In Island Melanesia, there is a small but clear ancient genetic footprint in certain Oceanic-speaking populations (i.e., linguistically related to Polynesian). The survey results underscore the extraordinary diversity of Island Melanesian populations from one language group to another, and from island to island. This is the result of the small sizes of the populations and the very long extent of modern human settlement there (over 30,000 years)."

Multivariate studies of cranial form: the impact of Howells' research on defining Homo sapiens.
J.B. Gaines et al.

Demographic simulations of the admixture between foragers and farmers in central European Neolithic.
P. Galeta, J. Bruzek.

William White Howells: A physical anthropologist in the making.
E. Giles

The relationship of Nubians with their neighbors, the Egyptians.
By, K. Godde.

The Phylogeography of Haplogroup N1a
Gokcumen O et al.
Recent studies have revealed a complex geographic distribution of haplogroup N1a. This rare and distinctive lineage is widely distributed across Eurasia and Africa, but always found at very low frequencies. However, despite its rarity, the genetic diversity within N1a has remained relatively high (h=0.9605). The reduced median network of N1a haplotypes not only reflects
this level of diversity, but also exhibits several relatively well-defined branches. The
distribution of N1a is intriguing because of revealing previously unrecognized connections between populations. What makes N1a even more interesting is the prevalence of this lineage in ancient European populations. Haak et al. (2005) found that 25% of their European Neolithic
samples belonged to N1a and dated to ~5000 BCE, whereas the frequency of this lineage in contemporary Europeans is only ~0.2%. In addition, an Iron Age skeleton from Kazakhstan had an N1a haplotype, suggesting the existence of this lineage in the Altai Republic in ~500BCE (Ricaut et al. 2004). Indeed, we found several haplogroup N1a mtDNAs in indigenous Altaians and Altaian Kazakhs. To further elucidate the phylogeography of this lineage in Central Asia, we sequenced the whole mtDNA genomes of our N1a haplotypes, and analyzed the resulting data with several quantitative methods and simulation programs to estimate their expansion times and spatial
distribution in Eurasia. Our findings suggest that there are two well-defined sublineages
within N1a, and that the dispersal of this haplogroup could be associated with the Neolithic expansion and with prehistoric interactions between Central Asian and European populations.


Understanding human races: the retreat of neutralism.
Henry Harpending
Discussion and debate about human races has been dominated for decades by neutral theory and statistics. Since this literature never posed a real question, it has never produced an answer. Lewontin's 1972 paper with its claim that a value of 1/8 of a statistic like Fst is “small” and that this means that human race differences are insignificant is a staple of our textbooks. Recently geneticists have had a closer look and pointed out that Fst of 1/8 describes differences among sets of half sibs and few claim that half sibs are insignificantly related. Anthony Edwards has shown that the significance of differences is in the correlation structure of a large number of traits, again denying the Lewontin assertion that human differences are small. Alan Templeton in 1998 claimed that human races were less differentiated that races of some other large mammals, but he compared human nuclear DNA statistics with statistics from mtDNA in the other species. An appropriate comparison shows that human are more, not less, differentiated than other large mammal species. Since neutral differences are a passive
record of demographic history they are not very significant for issues of functional biology. Newly available data sources allow us to study the natural selection of race differences instead of their drift. It appears that there is a lot of ongoing evolution in our species and the loci under strong selection on different continents only partially overlap. Human race differences may be increasing rapidly.

Acceleration of adaptive evolution in modern humans.
J. Hawks and G. Cochran
Humans vastly increased in numbers during the past 40,000 years. Recent surveys of human genomic variation have suggested a large surplus of recent positive selection, indicated by excess linkage disequilibrium and skewed SNP frequency spectra. We applied estimates of prehistoric and historic population sizes to estimate the importance of population growth in explaining the number of recent adaptive mutations. Our estimates are consistent with genomic evidence in suggesting that the rate of generation of positively selected genes has increased as much as a hundredfold during the past 40,000 years.

Do skeletal features reflect this genomic evidence of selection? Under positive
selection, rapid appearance of new variants during the terminal Pleistocene and early
Holocene would cause maximal phenotypic change during the last 2000-4000 years. We compared original and published series of Holocene cranial data from Europe, Jordan, Nubia, South Africa, and China, in addition to Late Pleistocene samples from Europe and West Asia, to test the hypothesis that the genomic acceleration in positive selection correlates with phenotypic evolution during this time period. A constellation of features in the face and cranial vault, notably including endocranial volume, changed globally during this time period and documents common patterns of selection in different regions. Holocene changes were similar in pattern and chronologically faster than those at the archaic-modern transition, which themselves were rapid compared to earlier hominid evolution. In genomic and craniometric terms, the origin of modern humans was a minor event compared to more recent evolutionary changes.

Patterns of admixture in Mexican Americans assessed from 101,150 SNPs.
M.G. Hayes et al.
"No significant differences were observed between the 10 subsets, allowing us to average the admixture estimates across the subsets: 68% European, 27% Asian (as a proxy for Native American), and 6% African."

Gender, wealth, and status in Bronze Age Central Asia: a dental pathology investigation.
B.E. Hemphill.

Sahara passage: the post-glacial recolonisation of North Africa by mitochondrial L* haplotypes.
AD Holden. P Forster.

Secular trends of the European male facial skull from the Migration Period to the present.
E. Jonke et al.
We examined secular trends in the facial skull over three Central European samples spanning more than 13 centuries. Data are 43 conventional cephalometric landmark points for samples dating from 680–830 CE, from the mid-19th Century, and from living Austrian young adult males. Methods of geometric morphometrics demonstrate shape differences across the samples, and also
differences in allometry. There is a stronginteraction between these, so that group mean differences are different for small and large individuals (equivalently, allometry is
different from period to period). The oldest sample, from the Migration Period, exhibits
allometric features that may possibly be Turkic. There are implications for the
craniofacial biologist interested in growth trends or growth predictions in ethnically
mixed populations. There are also implications for the discussion concerning the morphology of the Avars (an ethnic group of probably Central Asian origin who conquered large parts of Central Europe during the Migration Period and who interbred with other incoming groups after their conquest by Charlemagne), and also the relation of these findings to current thinking on gnathic reduction trends.

Roman Gladiators - The Osseous Evidence.
F. Kanz, K. Grossschmidt

Paternal heritage for the Indonesian peoples.
T. M. Karafet et al.

Feeding the children: Isotopic evidence for weaning practices in the ancient Greek colony of Apollonia (5th-2nd centuries BC).
C. Kwok, A. Keenleyside.

Misconceptions about the postcranial skeleton of Homo floresiensis.
S.G. Larson et al.

A comparison of mitochondrial DNA and Y chromosome DNA variation on Manus Island.
K.E. Latham et al.

Population genetics of Indus Valley populations

A new article confirms that the genetic composition of the population of the Indo-Gangetic plain (Pakistan and NW India) consists of West Eurasian (Caucasoid) and indigenous South Asian elements. The contribution of other elements such as Sub-Saharan African in the Makrani "Negroids", the significant contribution of indigenous female South Asian elements to the Parsis (who are of Iranian origin, but live in India), and the contribution of Mongoloid elements in groups such as the Hunza, and the Hazara is also confirmed. The mtDNA distribution is shown below:



In terms of their Y-chromosome, the population of the region is of western Eurasian (Caucasoid) origin, also including a variant which has developed in the region and is found at lesser frequency elsewhere:

In striking contrast to the mtDNA data, there is no strong evidence in Pakistani populations of Y-chromosome signatures of the early inhabitants of the region following the African exodus (Qamar et al. 2002, Zerjal et al. 2002), with their Y-chromosomes largely replaced by subsequent migrations or gene flow. The Y-chromosome gene pool of Pakistani populations is mainly attributable to western Eurasian lineages, particularly from the Middle East (Qamar et al. 2002). Conversely, few traces of East Asian haplogroups are observed in the Indus Valley populations. One Y-chromosome haplogroup (L-M20) has a high mean frequency of 14% in Pakistan and so differs from all other haplogroups in its frequency distribution. L-M20 is also observed, although at lower frequencies, in neighbouring countries, such as India, Tajikistan, Uzbekistan and Russia. Both the frequency distribution and estimated expansion time (~7,000 YBP) of this lineage suggest that its spread in the Indus Valley may be associated with the expansion of local farming groups during the Neolithic period (Qamar et al. 2002).

Update

For easier access, here is a break-down of Indian Y-chromosomal distribution taken from a recent comprehensive study (pdf).



And, a similar study on Y-chromosomal distribution from Pakistan (pdf):



Annals of Human Biology Mar-Apr 32(2):154-62.

A population genetics perspective of the Indus Valley through uniparentally-inherited markers.

McElreavey K and Quintana-Murci L.

Analysis of mtDNA and Y-chromosome variation in the Indo-Gangetic plains shows that it was a region where genetic components of different geographical origins (from west, east and south) met. The genetic architecture of the populations now living in the area comprise genetic components dating back to different time-periods during the Palaeolithic and the Neolithic. mtDNA data analysis has demonstrated a number of deep-rooting lineages of Pleistocene origin that may be witness to the arrival of the first settlers of South and Southwest Asia after humans left Africa around 60,000 YBP. In addition, comparisons of Y-chromosome and mtDNA data have indicated a number of recent and sexually asymmetrical demographic events, such as the migrations of the Parsis from Iran to India, and the maternal traces of the East African slave trade.

Link