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The Hunt for Missing Heritability: Challenges and Opportunities for Novel Locus Discovery in Non-European Populations
Tuesday, January 31, 2012, at 12 noon U.S. Eastern Time (5 p.m. GMT)

A growing number of investigators are looking beyond European cohorts to study common and rare variants in populations around the world in the hunt for novel susceptibility genes. Join our expert panel to hear about how population genetics integrates with the genetics of complex disease to reveal novel disease genes and population-specific rare variants.
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Produced by the Science/AAAS Custom Publishing Office and sponsored by Affymetrix

2011 has gone down as the year of faked scholarship, but what if sound (if undaring) research is the victim of scientists' golden dreams of glory?

The prestigious journal Human Immunology first published the article "The Origin of Palestinians and Their Genetic Relatedness with Other Mediterranean Populations," then yanked it, instructing their subscribers to rip out the offending pages because they showed that Middle Eastern Jews and Palestinians are genetically almost identical. As of today, we still found the article online along with the editor's retraction and protests, but you'd better hurry if you want to read it. The censors who guard the scientific fables about Jewish DNA may discover a way to rewrite World Wide Web history as well as world history.

In the meantime, you can read about the whole lamentable mess in The Guardian in a story by Robin McKie, "Journal Axes Gene Research on Jews and Palestinians."

Recent genetic studies have tended to throw cold water on the size and decimation of American Indian populations on European contact after 1492. A new study shows the falsehood of this thinking, and perhaps we are back to using the word "conquest" instead of the euphemistic term "contact." The conqueror of the Americas was not Europeans, though, but the diseases they unleashed on Indians.

According to Science magazine, "a study published this week in the Proceedings of the National Academy of Sciences pushes the pendulum back toward dramatic population declines. Using both modern and ancient mitochondrial DNA (mtDNA) from Native Americans, an international team concludes that about 500 years ago, the number of reproductively active Native American women quickly plunged by half, indicating a 'widespread and severe' contraction in population size."

The study summarized is:  Brendan O'Fallon and Lars Fehren-Schmitz, "Native Americans Experienced a Strong Population Bottleneck Coincident with European Contact," Proceedings of the National Academy of Science (Dec. 5, 2011);  doi:  10.1073/pnas.1112563108.

Critics of the study say that the conclusions may be illusory since we do not have a lot of ancient Native American DNA. But we will never have a lot of Native American DNA. That objection seems lame, and we applaud the new study as at least a step in the right direction of rectifying the true story of the Americas and escaping the apologist blinkers of colonial "Smithsonian-styled" methodologies and mindsets.

 

A Missing Link from Kent's Cavern in Devonshire

A prehistoric maxilla (upper jawbone) fragment was discovered in the cavern during a 1927 excavation by the Torquay Natural History Society, and named Kents Cavern 4. The specimen is on display at the Torquay Museum.

Although previous radiocarbon dating suggested the bone was about 35,000 years old, a new study in Nature redates it securely to 44.2-41.5 kyr. The article by Tom Higham et al., "The Earliest Evidence for Anatomically Modern Humans in Northwestern Europe," also claims that on the basis of dental comparisons it is "human" rather than "Neanderthal."

The Kent's Cavern fragment "therefore represents the oldest known anatomically modern human fossil in northwestern Europe, fills a key gap between the earliest dated Aurignacian remains and the earliest human skeletal remains, and demonstrates the wide and rapid dispersal of early modern humans across Europe more than 40 kyr ago."

A related article in the same issue of Nature is "Early Dispersal of Modern Humans in Europe and Implications for Neanderthal Behavior," by Stefano Benazzi et al. It attempts to place the so-called Cavallo fossil from southern Italy in a timeframe of about 44,000 years ago, thus suggesting a "rapid dispersal of modern humans across the continent before the Aurignacian and the disappearance of Neanderthals."

Neither study considers that the evidence they are examining may be the result of hybridization between "humans" and "Neanderthals." Like most geneticists the authors have rigid categories and do not consider that our definitions of species and sub-species and transitions in technocomplexes and traits are in flux as new discoveries are made.

One man's Mede may be another man's Persian, and we note that the "fossil race" is not devoid of scientific jingoism pitting one country's news-making finds against another's. So far England seems to be winning.

However, the British still have to live down Piltdown Man, a fraud of biblical proportions that fooled the world for almost half a century until the 1950s. The Piltdown hoax is perhaps the most famous paleontological hoax ever. It has been prominent for two reasons: the attention paid to the issue of human evolution, and the length of time that elapsed from its discovery to its full exposure as a forgery combining the lower jawbone of an orangutan with the skull of a fully developed modern human.

The editors sum up the two new studies by writing, "The reanalysis of findings from two archaeological sites calls for a reassessment of when modern humans settled in Europe, and of Neanderthal cultural achievements." We wish that the paleontological community would think more out of the box and reassess how, when and where "humans" and "Neanderthals" interbred. 


Location of Kent's Caverns in Devon.

Everyone probably has wondered at some time what makes Aboriginal Australians different from other people, where they came from and how old their ethnic type is. Well, wonder no more. Following up on the previous post, "Australian Aboriginal DNA Gets Attention," this post will summarize the groundbreaking article in Science magazine, M. Rasmussen et al., "An Aboriginal Australian Genome Reveals Separate Human Dispersals into Asia" (Science 334, 7 Oct. 2011, 94-98).

First the abstract:

We present an Aboriginal Australian genomic sequence obtained from a 100-year-old lock of hair donated by an Aboriginal man from southern Western Australia in the early 20th century. We detect no evidence of European admixture and estimate contamination levels to be below 0.5%. We show that Aboriginal Australians are descendants of an early human dispersal into eastern Asia, possibly 62,000 to 75,000 years ago. This dispersal is separate from the one that gave rise to modern Asians 25,000 to 38,000 years ago. We also find evidence of gene flow between populations of the two dispersal waves prior to the divergence of Native Americans from modern Asian ancestors. Our findings support the hypothesis that present-day Aboriginal Australians descend from the earliest humans to occupy Australia, likely representing one of the oldest continuous populations outside Africa.

Above:  Aboriginal Men about 1900 from the Coranderrk Community. La Trobe Picture Collection.

This study of Aboriginals will be cited as a landmark case in genetics because the authors took especial care to disarm any criticism concerning possible admixture and contamination, achieved a stupendous rate of success in sequencing DNA sites and used smart comparators to verify their model of what makes Aboriginals different, including Neanderthals, Denisovans, Andamanese, Filipinos, Indians, Papua New Guineans and Melanesians. Fifty-eight co-authors are listed, with Morten Rasmussen of the Feinstein Institute for Medical Research, Manhasset, New York, named as the first lead author.

First sentence:

The genetic history of Aboriginal Australians is contentious but highly important for understanding the evolution of modern humans.

Some mysteries pointed out about Aboriginal Australian DNA by the authors include:

--The Aboriginal population contains a lot of diversity, including specimens of most of the world's haplogroups, male and female

--Related populations suggested are hunger-gatherers from Nepal and the Philippines, Great Andamanese and Onge from the Andaman Islands, Highland Papua New Guineans and certain peoples from India

--It was previously unclear whether Aboriginals resulted from a single dispersal out of Africa or multiple-dispersal model

--The role of hybridization with other archaic peoples was also not clear.

The authors confirm that "before European contact occurred, Aboriginal Australian and PNG Highlands ancestors had been genetically isolated from other populations (except possibly each other) since at least 15,000 to 30,000 years B.P." Also, "our results favor the multiple-dispersal model in which the ancestors of Aboriginal Australian and related populations split from the Eurasian population before Asian and Europeans split from each other" (97). "We find that the European and Asian populations split from each other only 25,000 to 38,000 years B.P., in agreement with previous estimates."

The new study finds that Aboriginals have an amount of admixture with Neanderthals and Denisovans comparable to Europeans and Asians, although they have more Denisovan DNA than other people. "This admixture may have occurred in Melanesia or, alternative, in Eurasia during the early migration wave" (97).

In sum, the Aboriginals are part of the same first-out-of-Africa branch of the human tree as Europeans and Asians, their ancestors splitting 62,000 to 75,000 years ago from Africans, and leaving relic related populations in the Highlands of Papua New Guinea and the Philippines. A second expansion wave through India, Indo-China and Southeast Asia replaced the original stock, while the Aboriginals became stranded and isolated in Australia about 50,000 years ago. 

"This means that Aboriginal Australians likely have one of the oldest continuous population histories outside sub-Saharan Africa today" (98).

Properly positioning Australian Aboriginals in the expansion of humans out of Africa opens the way to connecting the dots for all the other prehistoric peoples. The migration map presented by Rasmussen et al should be carefully studied for clues about the origins of Asians and Native Americans, to begin with.



Reconstruction of early spread of modern humans outside Africa. Note admixture between early dispersal (red) and second dispersal (black), as well as presence of archaic Denisovans in Asia. Science magazine.

The Gypsies, or Roma, or Romani (so called because of their concentration in Romania) are a far-flung distinctive population with a lot of diversity. In our database, we have samples of four Gypsy populations, plus samples for Romania, Macedonia and Hungary which you can match if you have even a small degree of Gypsy/Romani.

Gypsy DNA can sometimes be conflated or confused with Jewish DNA because both populations originated in the Middle East and often lived in the same Central European areas in modern times, but true Gypsy matches usually come with Indian, especially north Indian matches, because that's where the Gypsies lived around the 900s before they backtracked into Iran and Turkey and eventually crossed the Bosporus into Europe.

The Gypsy language, Romani, shows a strong Romanian influence but its basic vocabulary and grammar point to a north Indian origin.

The Gypsy religion, on the other hand, is not Indian or Hindu but closest to Jewish, Persian and Zoroastrian forms of monotheism.

"It is not known when or why the Gypsies left India but they were living in Iran by the tenth century AD. The Iranian poet Firdausi (c. 930-1020) wrote of the Gypsies in his epic history of the Iranians, the Shah Nama (Book of Kings), that they were originally a tribe of musicians who had been sent to the ruler of Iran by an Indian king. Once they had eaten the ruler out of house and home, the Gypsies took to the roads. By the 11th century Gypsies were living in the Byzantine empire and soon afterwards were spreading through the Balkans. When the Ottoman Turks began to overrun the Balkans in the 14th century, groups of Gypsies dispersed across western Europe, reaching Bohemia in 1399, Bavaria in 1418, Paris in 1421, Rome in 1423 and Spain in 1425. In the early 16th century Gypsies spread to Britain, Scandinavia, Poland and Russia, but the Balkans remained the main Gypsy centre." John Haywood, The Great Migrations from the Earliest Humans to the Age of Globalization (London:  Quercus), p. 142.


Gypsy Migrations according to Haywood.

Aboriginal Genome Shows Two-Wave Settlement of Asia

After many years in development, the results of a DNA ancestry project enrolling 40 Melungeons were published and made public, marking the end of an attempt to solve the mystery of a Southern U.S. ethnic group with autosomal DNA.

Seeming to lay to rest an old controversy in American history about Melungeons, the scientific data supporting a genetic mixture of white, American Indian and Sub-Saharan African were placed online today by the organizers of DNA Consultants' Melungeon DNA Project.

The data report a sample of 40 Melungeons' DNA fingerprints. Population analysis of the participants' DNA fingerprints was used in an article for Appalachian Journal. Titled "Toward a Genetic Profile of Melungeons in Eastern Tennessee," the study was co-authored by Donald N. Yates, principal investigator of DNA Consultants, and Elizabeth Caldwell Hirschman, a professor at Rutgers University in New Brunswick, N.J.

"This is a giant stride forward in understanding the mixed ancestry of Melungeons," said Donald Yates, co-author. "Never before has autosomal DNA been used in attacking the problem."

The 40 participants' names were:

Anonymous, Mabel Bentley, Judy Douglas Bloom, Leah Laura Bulgariev, John (Dick) Caldwell, John R. Caldwell, Sr. (deceased), Virginia Caldwell, William Collins, Mary Goodman, Floyd Milton Grimwood (deceased), Ann Reagan Haines, Linda Barnett Hall, Nancy E. Hammes, Elizabeth Caldwell Hirschman, Pat Goin Jones, Brenda LaForce, Everett LaForce, Jessica Kiely Law, Bonnie J. Lyda, N. Brent Kennedy, Richard Kennedy, Margaret E. Kross, MeriDee Orvis Mahan, Karen Mattern, Sebenia Ann Milbacher, Nicolas J. Millington, Holli Starnes Molnar, Nancy Sparks Morrison, Teresa Panther-Yates, Billy Starnes, Julia Starnes, Keely Starnes, Phyllis Starnes, Richard Stewart, Doretha J. Thornton, Kaye M. Viars, Celia Wyckoff, Wayne Winkler, Betty Yates Adams, Donald N. Yates.

Participants were qualified by their genealogies and included many names familiar to those who follow Melungeon genealogy discussion groups on the Internet, including Brent Kennedy, author of the book 1996 book that started the Melungeon Movement, his brother Richard Kennedy; Elizabeth Hirschman, a native of Kingsport, Tenn., along with several members of her family; Wayne Winkler of the Melungeon Heritage Association and author of Walking Toward the Sunset; and Nancy Morrison, creator of the online Melungeon Health referral service.

More information on DNA Consultants' Melungeon DNA Studies page.

Melungeon family in Tennessee about 1900.

Older version and abstract of "Toward a Genetic Profile of Melungeons"

Customs and Beliefs of the Roma and Sinti

Some of our customers have been surprised to get Gypsy/Romani population matches in their results for the DNA Fingerprint Test. Typically, these are combined with Middle Eastern and Indian matches due to the Gypsies' historical migrations. Other customers were not surprised at all and called to tell us about the fortuneteller great-grandmother or mysterious ancestor who traveled with the circus. Gypsy heritage is not unheard of among Melungeons. So for those who think they may have Roma/Sinti or Romechal (the term used in the British Isles), we have compiled the following list of customs and beliefs taken from an excellent authority.

Strict monotheism similar to Jews

Keeping the seventh day holy

Lighting candles on the evening of Parashat (Friday)

Blasphemy a sin, as is cursing an elder

Beng (Satan) the enemy of God and of the Roma people

The Evil One called bivuzhó (impure) and bilashó

Code of Law

No social classes, only a division into Roma and Gadje (non-Roma)

A court of justice called Kris (Judiciary Council), composed of clan representatives as judges

Both men and women serving on Kris

Issues between Roma to be judged only by the Kris, not by Gadje

All Roma equal before the eyes of the Kris

Belief in blood revenge and compensatory payment for clan of victim

Banishment from territory of victim’s clan for wrong doing

Forfeiture of protection if banished offender reenters

Roma not even to acknowledge or greet one who is banished

Accursed or banished called mahrimé (impure)

Roma not to ask interest for loans to other Roma, only from Gadje

Sexuality, Marriage and Childbirth

Nudity is taboo, allowed only with a husband and wife

Showing naked legs before an elder disrespectful

Homosexuality an abomination

Not allowed to wear clothes of the opposite sex, even as a joke or disguise

Virginity before marriage essential

Tokens of virginity shown to the assembly after wedding

Prostitution strongly condemned

Incest taboo, defined in the same way as Mosaic law (including step-siblings and in-laws)

Permissible to marry your cousin

Members of the Kris must be married

Lack of a spouse makes a man or woman incomplete

Groom’s family pays dowry to the bride’s family

Dowry for a widow amounts to half that for a virgin

A man dishonoring a woman should pay the dowry to her family anyway

Runaway couples considered legitimately married

Marriage endogamic, even within the same clan

Clan recognized by a common ancestor within a few generations

Divorce admitted:  husband sends wife out or she leaves

Remarriage expected after divorce

Levirate law practiced (Deut. 25:5-6)

Childbirth impure, must take place outside the home

Mother giving birth isolated with baby for seven days strictly, followed by 33 days of less strict isolation (cf. Lev. 12:2, 4-5)

New mother cannot show herself in public or attend religious services

Both sexes marrying very young (child marriage)

Funeral and Mourning Rituals

Dead to be buried intact (autopsy or cremation sacrilegious)

Close relatives of the dead impure for seven days

Not to touch a dead body

Family and relatives of deceased forbidden to bathe, comb their hair, cut their nails for three days

On third day after a death, relative must wash thoroughly, and then not again until seventh day

All food in house where a person died is thrown away as defiled

On third day after a death, the house is purified (“the ashes of the burning of the sin”) and a virgin sprinkles running water

The same ceremony repeated on the seventh day after a death, with food brought to the mourners from another dwelling place

Mourners stay at home

Sitting on low stools

Covering mirrors

Not using oils or perfumes or cosmetics

Not wearing new clothes

Not listening to loud music

Not taking photographs or watching television

Not painting, cooking, and cannot greet people

Day mourning extended after seventh day remembrance ceremony until thirtieth day

Another remembrance ceremony on thirtieth day, closing the strict mourning period

Beliefs in Afterlife

Death is final, no reincarnation or return

Soul goes to Paradise or Hell

Purity and Impurity

Concept of marimé (similar to kashrut)

Lower body and things associated with it impure

Sleeping regarded as an impure state

Not to greet anyone upon waking until washed

Disrespectful to greet anyone in an impure state

Dogs and cats impure

Horses, donkeys or riding animal impure

Carnivorous animals impure

Avoidance of horseflesh

Shoes, pants, hose, skirts, trousers, etc. impure

The camp pure

Restrooms built outside the home

Clothes for the lower body and menstruating women washed separately

Dishes washed in a different place from clothes

Other Practices

Custom of mangel, asking for favors from Gadje

Painting doorposts of dwelling with animal blood to protect against angel of death

Invoking the Prophet Elijah, particularly when seeing lightening or hearing thunder

Firstborn son considered a special blessing to the family

Wearing of whiskers

Left hand related to the public domain (Gadje), impure

Separate dishes and cups for Gadje

Only eating ritually slaughtered animals

Slander considered very a very serious offense, worth taking to Kris

Lack of belief in divination (contrary to general view of Gypsies)

Practice of Tarot cards and crystal balls for Gadje only

Having a Gypsy name besides a civil name

Names that are Hebrew, Greek, Russian, Spanish, Hungarian, Persian, never Indian or Hindu

Beef a favorite food

Interest in bullfighting

Middle Eastern music and dance with zithers, etc. (Flamenco in Spain)

Fingernails and toenails filed with an emery board, not a clipper

Going to a church called Filadelfia (Brotherhood)

Claiming to be Egyptian in origin

Making pilgrimages to the burial places of your ancestors

Source:  Abraham Sándor, “Comparison of Romany Law with Israelite Law and Indo-Aryan Traditions”

Ashkenazi Jews May Have Founded Israel,

But Hebrew-Speaking Khazars Created Ashkenaz

Yes, the Khazars spoke Hebrew. It was the official language of the medieval kingdom, just as it is today in Israel. That is one of the surprising revelations of a book titled The Invention of the Jewish People, by Tel Aviv history professor Shlomo Sand, who devotes half a chapter to the “strange empire in the East” (London:  Verso, 2009).

Judaism has not always been a closed society. During all but the last four or five centuries of its existence, it has been a proselytizing (and stabilizing) force in world events. Great states like the now-forgotten Khazaria played a role in the balance of powers and destiny of world civilization. The policies of the Kagan and his viceroy the Bey were praised everywhere for creating a prosperous, multi-ethnic, multi-faith state that held sway over the lives of millions for five centuries (700-1200).

Out of the Mists of Time

In an older book, Catastrophe (New York:  Ballatine), David Keys pursues a wider theme. He also has a chapter on Khazaria, “The Jewish Empire.” In it, after reviewing what we know about the medieval state, he concludes:  “The Khazar empire prevented the westward spread of Islam. If it had not been for the military might of the empire, Islam would likely have rolled west into pagan eastern Europe and possibly even into pagan Scandinavia in the eight and ninth centuries A.D.” He postulates that the Vikings could well have become Muslim, as well as Poland, Hungary, Romania, eastern Austria, the Czech and Slovak lands, Germany, Denmark, Sweden, Norway and Danelaw, the Viking state that emerged in eastern England.

“If the Khazar empire had not prevented Islamic expansion, it is even possible that the Normans (originally Vikings from Denmark) might have already been Muslims for two hundred years by the time they conquered England in 1066. What’s more, if the Arabs had occupied what is now the Ukraine and Russia [rather than the Khazars, who founded Kiev, Russia’s first capital], a Viking people known as the Rus would never have been able to push south and east from the Baltic to establish Russia” (p. 98).

An “investigative archeologist,” Keys attributes the rise and spread of the Khazar state to a devastating volcanic explosion in Java in 535 that caused worldwide darkness, crop loss, famine, droughts, floods, migration of peoples and destabilization of regimes. Among the losers in what has passed into history as the Dark Ages were the Byzantines, Britons, French, Spanish, south Arabs, Tang Chinese, Teotihuacan and Peruvians. The winners were Avars, Huns, Koreans, Japanese, Toltecs, Incas, Mohammedans, Angles, Saxons, Jutes, Vikings and Visigoths. The global disaster had far-reaching effects that formed the modern world.

Sand is a professor in the department of European history (separated, curiously, from “Jewish” history in his country, Israel) and is concerned, as all historians are, with books. On the basis of records and written accounts, he reveals Khazaria’s rise as no opportunistic accident to adorn a schoolboy’s tale but as a historical phenomenon central to the formation of world Jewry. What Sand and Keys have in common is their iconoclastic, multi-disciplinary approaches. Independently, they assign a prominent role to Khazaria in world history. Both attack taboo subjects with relish and finesse and are soundly ignored, no doubt, in the balkanized institutional world of learning.

Physical Evidence in Genes

Sand was apparently unaware of Keys or the global catastrophe of 525, but Keys has an excellent genetic summary of the heritage of the Khazars, one that is consistent with the latest research into the unity and diversity of the Jewish people(s).

“The Jewish empire’s other legacy was the creation of a large pool of Jews of ethnically non-Jewish origin who subsequently became a major part—perhaps even the numerically dominant part—of northeast European Jewry and subsequently of world Jewry,” Keys writes (p. 99). He goes further and substantiates and characterizes the convert origin of the Ashkenazi community in the ascendancy in modern Israel and the United States.

“This group, according to tradition, comprises the majority of the descendants of the ancient Israelite tribe of Levi—people who today still bear the name Levi or Levy. Significantly, it does not include a Levite subgroup—the Priests themselves—who often have the name Cohen. . . . This genetic marker does not even show up among the Cohens (descendants of the ancient Israelite Chief Priests)—but only among the descendants of Assistant Priests [Levites]. And then only within Ashkenazi (northern European) Jewry . . . . If some top Khazars were adopting Cohenic Levitical status (i.e., Chief Priest status), then it is more than likely that others—a larger number—were adopting ordinary Levitical status (i.e., Assistant Priest status). Adoption of Cohenic or ordinary Levitical status by converts was and is expressly forbidden by rabbinical law, so the Khazars had to develop a mythic national history that gave them the right to Levitical status” (p. 100).

Kaftans and Yarmulkes

Both Keys and Sand write of the revealing role of Yiddish, the lingua franca of medieval European Jewry and first language of 80% of the settlers in the modern-day Land of Israel. They agree that Yiddish, even though it has a medieval German base, has more elements that are Slavic, Romance, Hebrew, Aramaic and even Turkic and is more accurately to be regarded as the result of a relexification process by originally mixed Sorbs, Magyars, Khazars and others, not as the dialect of west German or Rhineland Jews. In conventional Jewish teaching, Yiddish is regarded as a prestigious import from the Rhadanite and other Romano-Frankic Jews (who were Judean merchants under the Romans, according to most, hence retaining the desired link to ethnic origins in the Middle East). In the new view, Yiddish loses a lot of its special historical claims and becomes simply a language of convenience in the polyglot Khazar domain of former times.

The two books attribute also a superabundance of anthropological characteristics of Ashkenazi Jews to Khazar predominance, including shtetls (townlets), silk kaftans, fur headdresses, naming individuals after Jewish holidays (we have an Aunt Hanukkah and Uncle Pesach in our family tree) and innumerable place-names in Eastern Europe. Finally, Sand notes that the word yarmulke is derived from a Turkic word (p. 247).     

Although the “Khazar thesis” is largely ignored or silenced by Israeli leaders and Jewish scholars, it is unlikely that the rulers of the modern state of Israel will make any constructive impact on the course of world events on the scale of Khazaria. Jews should study Khazaria's intellectual and international model of statecraft instead of the tired and chauvinistic histories of nineteenth-century Zionists. As Sand says, “Why not begin to dream its future afresh, before it becomes a nightmare?”