DNA Consultants Home of the DNA Fingerprint

Gene surfing is a process in population expansion whereby certain variations become prominent and dominant in a short time, appearing to skip the slow, steady, uniform accumulation of variegation and diversification. According to a study of the population structure and genealogies of Saguenay Lac-Saint-Jean in Quebec, this type of drastic change accompanied the immigrant wave front that spread over the area in the 17th century. "Deep Human Genealogies Reveal a Selective Advantage to Be on an Expanding Wave Front" in Science magazine describes the resulting demographics.

Abstract
Since their origin, human populations have colonized the whole planet, but the demographic processes governing range expansions are mostly unknown. We analyzed the genealogy of more than one million individuals resulting from a range expansion in Quebec between 1686 and 1960 and reconstructed the spatial dynamics of the expansion. We find that a majority of the present Saguenay Lac-Saint-Jean population can be traced back to ancestors having lived directly on or close to the wave front. Ancestors located on the front contributed significantly more to the current gene pool than those from the range core, likely due to a 20% larger effective fertility of women on the wave front. This fitness component is heritable on the wave front and not in the core, implying that this life-history trait evolves during range expansions.

So gene surfing in an expanding colonization phase can produce a genetic revolution whose effects will be felt for hundreds or thousands of years downstream in history.

We wonder if the same wave front demographics might explain some of the following population phenomena:

• Large scale triumph of Norman male lineages following the conquest of England in 1066.
• Selective expansion of Middle Eastern genes in Tennessee (including Cherokee families, Jewish male and female lines and Melungeons)
• Relatedness among Jews and "Jewish diseases"
• Diversity-within-uniformity of Polynesians
• Population replacement of Old European (U, N) by Middle Eastern genes (T, J)  in Europe as a result of the Neolithic Agricultural Revolution

Many students of history are puzzled why old populations have the allele frequencies and heterozygosity clines they have. Genetic drift is only part of the answer. Gene surfing and selection in deep history are the rest of it.

DNA Consultants' fourth Jewish marker, Tatar/Khazar, has been renamed Jewish IV, bringing it into line with European, Asian and Sub-Saharan African marker groups. All these populations have four markers in acknowledgment of their complexity, age and diversity.

Native American has only two markers.

Jewish IV can be expected to be more sensitive following the addition of Altai Turkic, Caucasus, Southern Russian and Khazak population data to the company's computer program atDNA.

The four Jewish markers may be described as follows:

JEWISH I. This is the most common of the three markers. It can occur without known Jewish ancestry for a variety of reasons including an ancestor’s conversion to Christianity during the centuries of persecutions against Jews in Europe. Its frequency is highest in Poles, Russians, Germans, Hungarians, Romanians and Slavic peoples who intermarried with Ashkenazi Jews. It also appears in Spanish, Portuguese and Moroccan Jews (Sephardim).

JEWISH II. This marker is the strongest. It is found in Jewish families who have intermarried with other Jews down through the centuries. It is characteristic of Ashkenazi Jews.

JEWISH III.  This marker is an indication of Middle Eastern roots. Preserved by Jews, it is also borne by Kurds, Syrians, Arabs, Berbers, Basques, Turks, Greeks, Italians and other populations from the ancient world.

JEWISH IV. A marker indicative of Tatar or Khazar heritage. Khazars were a Central Asian people of Turkic, Hunnish and Iranian elements that arose in the Caucasus region. After converting to Judaism in the early Middle Ages, they moved westward into Russia and the Ukraine under pressure from Islam, eventually becoming a large component of Eastern and Central European Jewry. Many Ashkenazi Jews now find they have some Khazar (or intermingled Tatar) ancestry.

As can be seen, these divisions reflect the three major convert populations of Judaism, Sephardim, Ashkenazim and Khazars (often referred to as "the thirteenth tribe") in addition to the original Middle Eastern Israelites and related people of the Bible (Jewish III), which forms the core genetic element of solidarity.

Khazar rabbis.

No scientific work, to our knowledge, has ever hazarded a guess on what the mutation rate for autosomal CODIS-type markers might be. Is it like mitochondrial DNA, which has a molecular clock measured in the thousands or tens of thousands of years, or is it like STRs on the Y chromosome, with its much shorter timeframe? The question is important if you are trying to extrapolate the history of the human race from today's autosomal population statistics.

From what we can see, putting on diachronistic lenses, the mutation rates for the DYS values on what are commonly called CODIS markers or the DNA profile for individuals are very small. The values appear to have been set from the beginning of mankind and to have mutated little in the past 100,000 years.

If this is true -- and it cannot be a very big "if" or we would have more diversity between populations than what is known -- the oldest markers are Sub-Saharan African and the newest European. Statistical divides bear out this reading of the human genetic record, as shown now in our updated map included with the DNA Fingerprint Plus.

We will try to make some notes on the individual markers in future posts.

In 2009-2010, an analysis of 11 royal mummies from around 1300 BCE was carried out by an Egyptian team under the country's chief archeologist Zahi Hawass. A television special was produced, titled "Unwrapping King Tut." Hawass and his colleagues published "Ancestry and Pathology in King Tutankhamun's Family," in JAMA, vol. 303, no. 7. (Feb. 17, 2010).

In a fun review article earlier this year, British journal New Scientist's Jo Marchant summarized much of the resulting controversy. See her "Royal rumpus over King Tutankhamun's Ancestry."

We'd be interested in seeing Tut and the other putative family members' DNA fingerprint scores at the bottom of the mystery but are not aware that Hawass and his team actually published the bona fides of their investigations. From a cursory look, it is evident to us that Amenhotep and his descendants, including Akhenaten, Tutankhamun and his unidentified mother (Nefertiti? Tiye?), all bore our marker Asian III.

Unsurprisingly, none of the royal mummies seems to have carried a Jewish marker. It is unclear from the limited data revealed to the world by Hawass whether any had Sub-Saharan African markers.

The new Tut tiff swirls around the question of the pharaohs' African and Western European ethnicity. Without being able to shed light on that, our 18 Marker Ethnic predictor at least suggests they had Asian. Of course, this is not to say they were Asian primarily, since all peoples, ancient and modern, are mixed and may exhibit a variety of ethnic markers in their autosomal DNA.

Above:  British Museum's wood and ivory painted chest lid from the royal tomb shows Tutankhamen leaning on a staff with his sister-wife Ankhesenamun presenting him with a lotus flower. Inbreeding and genetic disease spelled the end of the dynasty.

If you think haplogroup testing for Native American DNA is in sad shape, you should look at autosomal testing. It has been practically nonexistent. Even the major 2007 study by Wang et al. has glaring gaps and methodological quandaries(1).

DNA Consultants' newest autosomal product is the Native American DNA Fingerprint Plus based on 21 published studies of Native American population groups as well as informal customer data. Results for many individuals were validated with older haplotyping methodology.

There were data for 3,583 Native Americans available in development of the product. These test results came from articles published between 1997 and 2009. They included individuals identifying with tribes or nations as follows:

Apache
Athabaskan
Huichol
Inupiat
Kichwa
Lumbee
Navajo
Salishan
Yupik

Alaska
Arizona
Brazil
British Columbia
Colombia
Ecuador
Florida
Guatemala
Mexico
Michigan
Minnesota
North Carolina
Oklahoma
Ontario
Saskatchewan

Nothing labeled as Cherokee -- the largest Native group in the U.S., with more than 400,000 representatives -- has ever been tested. Anecdotally, people of Cherokee descent often receive matches to North Carolina or Michigan Native Americans. The reason for the latter matchup is obscure. North Carolina as the Cherokee's original homeland makes a lot more sense.

1. Wang, S. et al. (2007). “Genetic Variation and Population Structure in Native Americans.” PLoS Genetics 3/11 (with good bibliog.):  http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.0030185.

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. 

Surely Not "Ancestry Painting and Global Similarity"

We were surprised to see what DNA testing companies are calling their autosomal products these days. Ours is the DNA Fingerprint family of products, but 23&me calls their entry "Ancestry Painting and Global Similarity" and "Personal Genome Service." Others offer "Genetic Ancestry Analysis," "Family Finders," and "Ancestral Origins."

Before the introduction of DNA fingerprinting for ancestry purposes, DNA testing was limited to the father’s male line or mother’s mitochondrial lineage. Newer autosomal tests can be taken by a male or female. They analyze all your lines at once, not just the two traditional ones of genetic genealogy. Autosomal DNA is the great equalizer, but it's not being marketed very adroitly.

A beginner’s class titled "Ancestry Tracing with an Autosomal DNA Test:  Conceptions and Misconceptions" will be presented by DNA Consultants principal investigator Donald N. Yates, Ph.D., at the upcoming Arizona Family History Expos. It will provide an overview of autosomal DNA tests that are capable of yielding a more complete picture of your family tree and its roots. Covered are the science and history of DNA fingerprinting, what markers are delineated, the databases used for finding matches, and methods and strategies for interpreting your results, including follow-up websites, social networking and readings.

The event takes place at the Arizona Family History Expo 2011, Lecture 73, Conference Theater, 11:00 a.m., Saturday, Jan. 22, 2011, Mesa Convention Center, 263 North Center Street, Mesa, Arizona 85201. For information on attending, visit Family History Expos or contact Holly T. Hansen at info@fhexpos.com.

Jewish I is described as "the most common of the three markers . . . its frequency highest in Poles, Russians, Germans, Hungarians, Romanians and Slavic peoples who intermarried with Ashkenazi Jews. It also appears in Italian, Spanish, Portuguese and Moroccan Jews (Sephardim)." This means it is a marker of general European admixture. But where is it most common, and where did the European Jews it identifies originate? Where were they concentrated in earliest times?

Statistical searches in ENFSI provide some tantalizing answers. Jewish I is found at a relatively high frequency throughout Europe but at elevated levels in Poland, Portugal and Belgium. It is lowest in Italy and Finland.

This would suggest that Jewish ancestry and intermarriage was common in countries where the population still carries this admixture marker.

Jewish II is characterized as the "strongest" marker, correlating very often with Ashkenazi Jewish parentage, especially in its double allele form (two checks under parents' columns on an 18 Marker Ethnic Panel or Jewish DNA Ancestry report). This description is validated by ENFSI results for 22 countries of Europe, where its strongest showings are in Czechoslovakia, Croatia and Slovenia (all Central European Slavic populations).

Its lowest frequency occurs in Germany, Denmark and the Netherlands, countries with few Ashkenazi Jews today. There are no data for Hungary in ENFSI since it does not belong to the European Union. Czech is the closest population in geography and historical composition. Likewise, there are no data for Slovakia, the southern part of the former Czechoslovakia, as Slovakia chose not to participate in ENFSI.

In Czechoslovakia, nearly 1 in 26 people carry Jewish II in its double allelic form, suggesting both parents were Jewish. The lowest frequency of Jewish II occurs in Scotland, where only 1 in 65 have it.

Note that even though most Ashkenazi Jews spoke Yiddish, a Germanic dialect, they were not necessarily German in origin. More likely they belonged to the Slavic peoples. Yiddish is not linguistically descended from Rhinish or Low German but a High German language of convenience adopted by Slavic-speaking Jews during Germany's medieval Drang nach Osten (Push to the East). Germany itself was considered a predominantly Slavic nation by geographers until the nineteenth century, when it was first unified under the Prussian monarchy.

The reason Jewish II is not detected at a higher level in today's German population is because of the ethnic cleansing and genocide committed by the Nazi government in the Second World War. For various reasons, Czechoslovakia and Hungary's Jewish populations, many of them assimilated Jews, survived better than Germany's.

The best book about German Jewry is probably The Pity of It All, A History of Jews in Germany, 1743-1933, by Amos Elon (Macmillan, 2002), although the author's approach to Jewish ethnicity is Zionist and doctrinaire.

Jewish DNA is full of controversies and the journalist Jon Entine shies away from none of them in this bestselling compendium. Interesting for our readers may be to note where he falls out on some of the more vexed issues after taking the trouble to interview genetic news makers such as Karl Skorecki ("Genes of Old Testament Priests") and Father William Sanchez, the cause celebre for New Mexico crypto-Jews.



Is there a Jewish "race"? That is probably not the right word, but yes, writes Entine, there is definitely a Jewish ethnicity that has been been preserved in exile from the beginnings of Judaism in the Middle East over 3,000 years ago. Even Ashkenazi Jews are, genetically speaking, more similar to themselves and Middle Easterners than they are to Czechs, Poles and other Central and East European neighboring populations.

Is the Bible a true and accurate history of the Jews? No, for one thing, events in the Old Testament are corroborated by only a handful of contemporary records, including one Egyptian document and one Assyrian proclamation. The early books were rewritten several times, most famously by the Patriarch scribe Ezra. The Jews returning from Babylonian Exile burnished the existing scriptures and introduced political themes that put the Northern Kingdom in a bad light. The word "Jew" was not actually used of the inhabitants of ancient Israel until around 520 B.C.E., when the "battered capital city, Jerusalem, surrounded by a scattering of towns" (p. 107) was called Yehud, the Aramaic name of a new province in the Persian Empire. 

Do the Samaritans retain the closest genetic resemblance to Abraham's descendants? Here is what Entine writes:

The scientists speculate that not only are today's Samaritans likely descended from the Israelites, they may be the ancestral remnants of a breakaway group of Jewish priests that did not go into exile when the Assyrians conquered the northern kingdom in 721 B.C.E. Instead, these Cohanim may well have stayed, "but married Assyrian and female exiles relocated from other conquered lands, which was a typical Assyrian policy to obliterate national identities." It may just be that the tiny clan of Samaritans are a rare surviving branch of the ancient Israelites.

Among Entine's sources are Batsheva Bonne-Tamir, an Israeli geneticist who began studying Samaritan DNA when the population had dwindled to only a few families in the 1950s. Other authorities interviewed include: 

Karen Avraham (deafness in Jews), Doron Behar (Jewish founding mothers), Neil Bradman (Lemba Jews), Luca Luigi Cavalli-Sforza (Stanford's grand old man of DNA), Jared Diamond, David Goldstein (Jewish diseases), Michael Hammer (Y chromosomes), Mary-Claire King (disease studies), Jonathan Marks (critic), Tudor Parfitt (African and Indian Jews) and Mark Thomas (Cohanim).

What happened to the ten Lost Tribes? Entine adopts a wry and caustic attitude toward this subject, beginning his chapter "Wandering Tribes" with a piece on the Worldwide Church of God, a Pasadena, California sect founded by an ex-advertising agent, Herbert W. Armstrong, in the early 1930s. Armstrong was a proponent of British-Israelism, the belief that England is the heir to ancient Israel, the tribe of Ephraim having settled in Britain and the word "British" being derived from the ancient Hebrew word beriyth, which means covenant. "When Armstrong died in 1986, the WWCG claimed more than 150,000 members and an annual budget of $130 million" (p. 130). 

Are Ashkenazi Jews really Khazars (i.e. non-Semitic)? Their genetic mix contains some Turkic elements from the Khazars, but even the Khazars were not 100% Turkic. Entine does not believe in the mass conversion portrayed in works such as Judah Halevi's medieval account The Kuzari: A Book of Argument in Defense of a Despised Religion. Following the author Kevin Brook ("not a formally trained historian but an impressively self-taught scholar...creator of the Web site khazaria.com," p. 199), Entine says "the number of Khazarian Jews probably numbered no more than 30,000 out of a total population of 100,000, including a few thousand nobles and royalty" (p. 201).

Do you have to have a Jewish mother to be Jewish? Entine investigates this ruling very thoroughly and shows that Judaism was spread primarily by men with Middle Eastern roots who married local women of non-Semitic ancestry who converted to the husband's religion. The Jewish mother criterion came about in rabbinical times under the influence of Roman law. In Biblical times, Jewishness always came from a Jewish father. 

Is there an "intelligence gene" among Ashkenazi Jews? Yes, it emerged in the age of the ghetto when survival selected for males who could earn a livelihood with their wits rather than hands or bodies.

Having touched on these questions, I would like to point out that many of the solutions are rather superficial. Entine's research is not very deep or wide ranging. Nowhere in the chapter on mass conversions does he speak about the Babylonian principality of Narbonne in the South of France during Carolingian times. His treatment of Sephardic Jews is meager. There are other limitations in the scope of the work, but in general, Abraham's Children is to be recommended as a solid, reliable, seemingly effortless account of a subject on which blood, sweat and tears have been spilled on every page in the past. That is no small feat.