DNA Consultants Home of the DNA Fingerprint

The whole business of direct-to-the-consumer DNA tests was founded upon the revelation in 1997 that Jewish men with the last name Cohen ("priest" in Hebrew) or something similar often preserved the genetic signature of Old Testament priests in the Y chromosome type handed down from father to son. Last year at long last, the so-called Cohen Modal Haplotype was completely pinned down and defined to everyone's satisfaction ("Does He or Doesn't He?"). Now similar genetic traces are being sought, and found, for other religions from the Middle East.

In response to customers asking whether being a Jew was a matter of ancestry or culture, genes or religion, I used to say, "Genes don't have religion, genes are older than religions, your DNA doesn't know what religion you are." But the increasingly adept methods of populations genetics are changing that pat response. The key tool is a program that uses advanced statistics to estimate population differentiations, BATWING. Standing for Bayesian Analysis of Trees With Internal Node Generation, this software can calculate the effective population sizes and growth rates from microsatellite data, assuming there was a split into several populations in the past. It is a little over 10 years old. The following article is likely to become a classic in this regard:

Influences of history, geography, and religion on genetic structure: the Maronites in Lebanon

Marc Haber et al.

European Journal of Human Genetics (2011) 19, 334–340; doi:10.1038/ejhg.2010.177; published online 1 December 2010

Abstract

Cultural expansions, including of religions, frequently leave genetic traces of differentiation and in-migration. These expansions may be driven by complex doctrinal differentiation, together with major population migrations and gene flow. The aim of this study was to explore the genetic signature of the establishment of religious communities in a region where some of the most influential religions originated, using the Y chromosome as an informative male-lineage marker. A total of 3139 samples were analyzed, including 647 Lebanese and Iranian samples newly genotyped for 28 binary markers and 19 short tandem repeats on the non-recombinant segment of the Y chromosome. Genetic organization was identified by geography and religion across Lebanon in the context of surrounding populations important in the expansions of the major sects of Lebanon, including Italy, Turkey, the Balkans, Syria, and Iran by employing principal component analysis, multidimensional scaling, and AMOVA. Timing of population differentiations was estimated using BATWING, in comparison with dates of historical religious events to determine if these differentiations could be caused by religious conversion, or rather, whether religious conversion was facilitated within already differentiated populations. Our analysis shows that the great religions in Lebanon were adopted within already distinguishable communities. Once religious affiliations were established, subsequent genetic signatures of the older differentiations were reinforced. Post-establishment differentiations are most plausibly explained by migrations of peoples seeking refuge to avoid the turmoil of major historical events.

Meanwhile, in Autosomal DNA

A like expansion and intensification of research interests has also transformed the field of Finnish DNA. In the old days it was well appreciated, through the work of Finnila and others, that the people of Finland, Estonia, Sweden and neighboring regions in Russia had a peculiar genetic history. Strangely, at least on the basis of mitochondrial DNA, they were more closely related to the Berbers of North Africa than the neighboring Swedes, Poles, Lithuanians and Russians. Female haplogroups UK were associated with a risk of occipital stroke, migraine and other neuro-deficiencies. On another level, their unique genetic history was approached through the study of male haplogroup N, common among Laplanders and Saami.

The focus has now shifted from haplotyping and sex-linked genes to population genetics and autosomal DNA just as it has in consumer tests. After 10 years, an important autosomal study of the Saami has revolutionized the subject and shows promise of becoming the pilot to a new series of genome-wide disease association studies.

A genome-wide analysis of population structure in the Finnish Saami with implications for genetic association studies

Jeroen R Huyghe et al. 

European Journal of Human Genetics (2011) 19, 347–352; doi:10.1038/ejhg.2010.179; published online 8 December 2010

Abstract

The understanding of patterns of genetic variation within and among human populations is a prerequisite for successful genetic association mapping studies of complex diseases and traits. Some populations are more favorable for association mapping studies than others. The Saami from northern Scandinavia and the Kola Peninsula represent a population isolate that, among European populations, has been less extensively sampled, despite some early interest for association mapping studies. In this paper, we report the results of a first genome-wide SNP-based study of genetic population structure in the Finnish Saami. Using data from the HapMap and the human genome diversity project (HGDP-CEPH) and recently developed statistical methods, we studied individual genetic ancestry. We quantified genetic differentiation between the Saami population and the HGDP-CEPH populations by calculating pair-wise FST statistics and by characterizing identity-by-state sharing for pair-wise population comparisons. This study affirms an east Asian contribution to the predominantly European-derived Saami gene pool. Using model-based individual ancestry analysis, the median estimated percentage of the genome with east Asian ancestry was 6% (first and third quartiles: 5 and 8%, respectively). We found that genetic similarity between population pairs roughly correlated with geographic distance. Among the European HGDP-CEPH populations, FST was smallest for the comparison with the Russians (FST=0.0098), and estimates for the other population comparisons ranged from 0.0129 to 0.0263. Our analysis also revealed fine-scale substructure within the Finnish Saami and warns against the confounding effects of both hidden population structure and undocumented relatedness in genetic association studies of isolated populations.

The key to emerging triumphs of research here is the international HapMap project.

On two fronts--religious history and rare diseases--genetics has brought more advances in the past decade than in the previous century before that. That consumers can take part in these exciting developments by ordering an affordable autosomal analysis of their entire ancestry or confirming the paternity of their child with a simple test purchased at their local drugstore is a tribute to the present golden age of American science and industry. 

Emergence petroglyphs as featured on previous blog posts about the Hopi, Sea Peoples, Hohokam, Fremont Indians and Cherokee ("Haplogroup B and Water Clan Symbols") have also turned up now in Patagonia in southern Chile, on the tip of the South American continent's Pacific Coast. They were identified in Hawaii already. These findings suggest the stick figure of a woman giving birth, or emergence petroglyph, is Pacific-wide and confined to that hemisphere, not instanced in Europe, the Middle East or Africa.

\

Patagonian emergence petroglyph is reproduced from the International Newsletter on Rock Art (INORA), no. 58 (2010), where it was reported discovered in a cave of the Madre De Dios Archipelago 2000-2008. The researchers attributed it to the Kaweskar Indians, "a nomadic sea people now vanished." Its style matches similar petroglyphs from Hawaii and the American Southwest. It was grouped with sun disks, dancing figures and a horned anthropomorph, all painted in red ochre. The name Kaweskar means simply "Mankind." INORA.

The timing of the dispersal of anatomically modern humans (AMH) out of Africa is a fundamental question in human evolutionary studies. Existing data suggest a rapid coastal exodus via the Indian Ocean rim around 60,000 years ago. We present evidence from Jebel Faya, United Arab Emirates, demonstrating human presence in eastern Arabia during the last interglacial. The tool kit found at Jebel Faya has affinities to the late Middle Stone Age in northeast Africa, indicating that technological innovation was not necessary to facilitate migration into Arabia. Instead, we propose that low eustatic sea level and increased rainfall during the transition between marine isotope stages 6 and 5 allowed humans to populate Arabia. This evidence implies that AMH may have been present in South Asia before the Toba eruption (1).

First paragraph.
The deserts of the Arabian Peninsula have been thought to represent a major obstacle for human dispersal out of Africa. AMH were present in East Africa by about 200 thousand years ago (ka) (2). It is likely that the first migration of AMH out of Africa occurred immediately before or during the last interglacial [marine isotope stage (MIS) 5e] (3). During MIS 6, the Afro-Asiatic arid belt was hyperarid, restricting movements of human populations out of Africa. Finds from Qafzeh and Skhul in the Near East, dated between 119 ± 18 and 81 ± 13 thousand years ago (ka) (4, 5), suggest that AMH first migrated along the “Nile Corridor” and into the Levant. 

The location of Jebel Faya, United Arab Emirates, along with key sites mentioned in the text. The dashed line represents the –120-m paleoshoreline, indicating the maximum exposure of land during marine lowstands. Science.

Did Modern Humans Travel Out of Africa Via Arabia?

By Andrew Lawler

Science 28 January 2011: 387. [DOI:10.1126/science.331.6016.387]

JEBEL FAYA, UNITED ARAB EMIRATES—The barren desert and hills here seem wholly inhospitable, with sparse rain and sandy soil supporting only a few nomadic Bedouin. But things were different 125,000 years ago, when the desert was savanna, with plentiful water and game, and under the protection of a rock overhang, a group of hominids whiled away their time making stone tools. A Germanled team argues on page 453 that these tools were made by modern humans who may have crossed directly from Africa as part of a migration spreading across Europe, Asia, and Australia. Although most researchers agree that our species came out of Africa in one or more waves (see p. 392), those dates are more than 50,000 years earlier than most believe our ancestors left the continent.

The audacious claim by Simon Armitage of Royal Holloway, University of London, and colleagues is sparking interest and controversy. “This is really quite spectacular,” says archaeologist Michael Petraglia of the University of Oxford in the United Kingdom, who has previously argued that Homo sapiens left Africa before the massive eruption of an Indonesian volcano 74,000 years ago, a catastrophe thought to have left much of Asia unlivable for early humans (Science, 5 March 2010, p. 1187). “It breaks the back of the current consensus view.” But others, such as archaeologist Paul Mellars of the University of Cambridge in the United Kingdom, say that although the discovery is important and well dated, the conclusions are flawed. “I'm totally unpersuaded,” he says. “There's not a scrap of evidence here that these were made by modern humans, nor that they came from Africa.”

The debate centers on a collection of stone tools found here at Jebel Faya, a long limestone mountain an hour's drive from the bustling urban center of Sharjah and 55 kilometers from the Persian Gulf. A rock shelter indents the mountain's end, a few meters above a desolate plain where only camels graze today. The overhang is modest, but it has sheltered humans for millennia, say excavators Hans-Peter and Margarethe Uerpmann of the University of Tübingen in Germany. They began digging here in 2003, uncovering artifacts from the Iron, Bronze, and Neolithic periods before hitting material from the Middle Paleolithic era, roughly 300,000 to 30,000 years ago. Using single-grain optically stimulated luminescence, which measures how much time has passed since materials were last exposed to light, the team dated the oldest set of artifacts, including stone hand axes, blades, and scrapers, to about 125,000 years ago.

Arabia and its fierce deserts have long been seen more as obstacles than conduits to human migration, and most archaeology here has focused on historical times. Recent studies, however, show wetter periods such as one that began around 130,000 years ago. And a spate of findings in the past 25 years show that hominins were in the region during the Middle Paleolithic. Early H. sapiens skulls and tools from Skhul and Qafzeh caves in Israel are now dated to 100,000 to 130,000 years ago, for example.

Co-author Anthony Marks of Southern Methodist University in Dallas, Texas, says the combination of artifacts from Jebel Faya, such as two-sided blades and small hand axes, is remarkably similar to assemblages made during this period in East Africa, when our own species was the only known hominin on that continent. Other hominins, such as the Neandertals who populated Europe and north Asia, did not use this combination of tools and were not likely to have been in Arabia, he says. That makes the African origin likely “by process of elimination.”

Marks says the tools don't resemble those from Israel or the Aterian tools from the same era in North Africa (Science, 7 January, p. 20). He suggests that H. sapiens may have left Africa in different waves, with the Arabian tools representing a migration launched from East Africa.

Petraglia agrees that it's likely that H. sapiens made the tools and that they came from Africa. “This is out of the habitat range of Neandertals,” he notes. “So they make a really strong and plausible argument.” The team believes that these early modern humans may have even pushed on across the Persian Gulf, perhaps to India, Indonesia, and eventually Australia. Petraglia claims evidence of early H. sapiens in India both before and after the Indonesian eruption, though others dispute that assertion.

Mellars, in contrast, sees no evidence that the Jebel Faya artifacts are of an East African style. He says one of the bifacials is stout rather than narrow like those common in Africa and adds that the authors have not ruled out Neandertals and even H. erectus as the toolmakers. “Everything hinges on whether that material is explicitly African—and I don't see that.”

Other researchers are enthusiastic about the Jebel Faya discovery but cautious about the conclusions. Archaeologist Mark Beech, a visiting fellow at the University of York in the United Kingdom who has worked extensively in the United Arab Emirates, praises the paper but adds: “One site does not confirm the out-of-Africa-via-Arabia hypothesis.”

Hans-Peter Uerpmann agrees, saying that fossil bones are needed “before we can be absolutely sure” that the tools were made by H. sapiens. Other researchers are hot on the trail: Petraglia leaves this month to continue work in Saudi Arabia, and other archaeologists plan to comb Arabian caves and sands for signs that our ancestors passed this way.

We've been saying as much all along.

See our blog post on Prehistoric Arabia.