Genetics Congress - XIX International Congress of Genetics - Melbourne, Australia, July 6-12, 2003  



Genetics Congress  

5.  History since the last Ice Age: National and International DNA Projects

5.1  Y-chromosome and mixed Y-chromosome/mtDNA tests

There are several non-surname projects DNA studies underway of a global or national scale that might be of interest to family historians. 

The largest is the Brigham Young University (BYU) global Y-chromosome database project that aims to sample 100,000 people in at least 500 different populations around the world. By July 2001 it had tested c.25,000 men and women. It appears that men are being sampled for both mtDNA as well as their Y-chromosome results. 

In the Old World, the Oxford Genetic Atlas of the UK project run by Professor Bryan Sykes at Oxford University is building up a British haplotype databank by cross-sectioning the British Isles. To date most samples have been built up from Scottish testees in a bid to use clans' genealogical histories to corroborate the work. It is testing both the Y-chromosome and mtDNA. 

A mapping of regional haplotype frequencies in Devon, Cornwall, Suffolk & Norfolk was begun in 1999 under Dr Mark Thomas at University College London (UCL), aimed at building up a more detailed pattern of medieval population movements in England. Y-chromosome testees had to be able to show two independent lines of descent from a common male ancestor living before 1700. Cornish families thought to have been invited include Andrewartha, Argall, Alabaster, Berryman, Clopton, Curnow, Emsden, Finbow, Holton, Kelland, Kernick, Luckcraft, Luxton, Pomeroy, Tregilgas, Trehewey, Treloar, Pethers and Yelland. The project also intended to sample one male representative of every distinctive Cornish surname. I have seen no published results of this project or its progress to date. 

The Vikings project, run by Professor David Goldstein at UCL, is sampling 2,500 British men in a Y-chromosome project across 25 locations in a bid to pinpoint how many modern Britons have Viking blood and to map the spread of the Vikings across the country during the Dark Ages. The project will tie in with a BBC series Blood of the Vikings airing in the autumn of 2001. More details of the project can be found in this BBC report. A wonderful map of Viking migration routes other migration materials is sourced at this Leiden University page. An early conclusion is that there is not much Norwegian Y-chromosome material in modern Celtic populations. 

Another early finding from the Viking study is that modern Celtic populations in Angelsey and Ireland have almost identical Y-chromosomes to the Basques of northern Spain. It is thought that both populations represent the pre-farming stock of Europe. 

A study into the diversity of Y-Chromosome haplogroups in Ireland by Mark Jobling of Leicester University and others started with the assumption that its position on the western edge of Europe meant that the genetics of its population should have been relatively undisturbed by the demographic movements that have shaped variation on the mainland. The results show clear patterns of distribution between eastern- and western-Irish populations once English-, Scottish-, Norman- and Norse-origin surnames are excluded. 98.5% of testees in Connaught in the north-west belonged to a single haplogroup. (The original article was published in Nature 404, p351-352.) 

Work on the genetic diversity of the Irish population and its origins is being advanced by Dan Bradley of the Department of Molecular Population Genetics at Trinity College, Dublin in a combined Y-chromosome and mtDNA study. One goal is to see whether people of the same surname can be traced to a common paternal ancestor. 

Dr Jobling is currently working on a study focusing on Leicestershire and Rutland, specifically surnames that correspond to Leicestershire village names and thus have a local geographical association. 

Elsewhere in Europe, a recent Y-chromosome study in Spain analysed the male-mediated flow of genes across the linguistic barrier between the Basques and the rest of the Spanish population. It concluded that the genetic evidence in some ways contradicted the linguistic evidence that emphasises their separation. 

Y-chromosome tests are also clarifying older inter-continental migrations. Haplotypes found in 533 individuals representing the native populations of the Americas and Siberia support theories about migration patterns in Siberia, the Americas & Central Asia. The evidence suggests that there were at least two major population expansion/migration events originated in the area of Lake Baikal in the central Asia landmass, with the second event occurring after entry into the New World was blocked by glacial ice sheets. This in turn suggests that the New World was initially peopled from Beringia by way of Central Siberia with a later event via a migration involving populations related to the modern inhabitants of Kamchatka and the lower Amur river. There are more details on Siberian migrations at Mike Hammer & Tatiana Karafet's Artic studies site. 

In the African continent a study of the Ethiopian gene pool by Giuseppe Passarino et al reported in the journal of The American Society of Human Genetics in 1998 showed through tests of both the Y-chromosome and mtDNA from 77 men that the Ethiopian population had experienced Caucasoid gene flow mainly through males. It also contains African components ascribable to Bantu migrations as well as exhibiting some Y-chromosome affinities with a very ancient African group called the Tsumkwe San. 

There has been one interesting Y-project looking at a specific caste, that of Jewish priests and their lay counterparts. Conducted by Michael F. Hammer of the University of Arizona et al and published in Nature in 1997 as Y Chromosomes of Jewish Priests, it investigated the accuracy of biblical accounts of the Jewish priesthood which was established about 3,300 years ago. Designation of Jewish males to the priesthood continues to this day and is determined by strict patrilineal decent. The study found clear differences in the frequency of Y-chromosomes haplotypes between Jewish priests and their lay counterparts, a difference is observable in both the Ashkenazi and Sephardic populations despite the geographical separation of the two communities. 

A second project on the the Lemba, a Bantu tribe in South Africa, confirmed their oral history of migration by finding that they possess the same Y-chromosome haplotype characteristic of the Jewish priesthood and in a frequency similar to that seen in major Jewish populations. In the Lemba's case the results were mainly associated with a particular clan, the Buba, which, in the tribe's oral tradition, had a leadership role in bringing the Lemba out of Israel. 

Y-chromosome DNA evidence has also been used to shed new light on historical questions or provided new forensic evidence to identify individuals. 

The most high profile case confirmed that president Thomas Jefferson probably fathered a son by his slave Sally Hemmings, the only doubt being whether it was he who transferred his haplotype directly to Hemmings's child or one of his male forebears to one of her paternal ancestors. (Alan Savin's pamphlet has full details of this case.) 

A rare DNA signature based on a mutation three centuries ago found in one French-Canadian man has helped identify members of his modern family, described on page 354 of Mark Jobling's excellent background paper 'In the name of the father: surnames and genetics' published in the June 2001 edition of Trends in Genetics

The unknown soldier from the Vietnam War at Arlington Cemetery has been identified using the Y-test as First Lieutenant Michael Blassie. Through a clerical error Blassie's remains were separated from the physical evidence associated with the site of his death in Vietnam in 1972 and then classified as unknown. However, advances in DNA identification techniques now prove his identity with 99% certainty. Over 2,000 America servicemen listed as "Missing In Action" from Vietnam may eventually be identified by this technique. To prevent such problems ever recurring the U.S. Department of Defense now DNA samples all recruits, adds around 4,000 records per day to its database, and has even DNA-matched some Civil War remains. 

Among the cases DNA analysis has not solved are the origins of Kennewick Man, an 8,500 year-old almost complete but fragmented skeleton found in Washington state in the north-west USA in 1996 and which aroused controversy when it was suggested that he was a aborginal caucasian and not of native Indian origin. Notes on the controversy can be found in the report on the DNA test attempt. 

5.2.  mtDNA test programmes

The most famous forensic mtDNA test is probably that which positively identified the bodies of the last Russian czar, Nicholas II, four of his family, three servants and their doctor. The test also confirmed that Anna Anderson Manahan wasn't as she'd claimed a surviving daughter of the czar, the Duchess Anastasia, but plain Franziska Schanzkowska. (Alan Savin's pamphlet has full details of this case.) 

Outside of Europe, a ground-breaking private initiative in the USA is analysing descendents of the Melungeons, the lost tribe of Tennessee and North Carolina around whom there are many theories of their origins. 

In Britain, a well-known case is the identification of a 42-year teacher, Adrian Targett, as sharing a maternal ancestor with a 9,000 year-old Stone Age hunter-gatherer whose remains were found buried in limestone during drainage work in the caves of the Cheddar Gorge in south-west England in 1903. Mitochondrial DNA extracted from one of Cheddar Man's molars showed he and the local teacher "shared a common ancestor about 10,000 years ago", according to Professor Bryan Sykes of Oxford University who conducted the tests. The test also indicated that Britons are descended from European hunter-gatherers rather than Middle Eastern farmers, an argument that has divided archaeologists for years. 

A study into mitochondrial genetic variation in the Western Isles, Orkney and Skye (north of Scotland) has been undertaken by Agnar Helgason, Bryan Sykes et al to estimate the proportions of Norse and Gaelic ancestry in the population. Similar analyses of both mainland Scotland and Shetland are now being undertaken. This project was the precursor to the wider UK Genetic Atlas project. It was reported in the American Journal of Human Genetics, vol 68, pages 723-737. 

A study of 92 unrelated individuals from Galicia, a relatively isolated European population at the westernmost continental edge in Spain, conducted by the University of Santiago de Compostela, found that the Galician population has a striking similarity to the Basque population. The results are compatible with the theory that humans spread across Europe during the Upper Paleolithic age from the Middle East. 

Another study, in the Basque region of Spain conducted by the Euskal Herriko Unibertsitatea in Bilbao, found evidence for a small population size in the post-Ice Age period. mtDNA sequences from four Basque prehistoric sites did not belong to haplogroup V, the haplogroup most closely associated with the area in modern times. The findings thus contradict one theory that explains the modern-day concentration in the Basque region as a result of migration from southwestern Europe, occurring approximately 10,000-15,000 years BP (before the present). 

A mtDNA analysis of Nile River Valley populations concludes that these migrations probably occurred within the past few hundred to few thousand years and that the migration from north to south was either earlier or lesser in the extent of gene flow than the migration from south to north. 

Central Asia is a vast region at the crossroads of different habitats, cultures, and trade routes. A Barcelona-based mtDNA analysis of Kazakh, Uighur, lowland Kirghiz and highland Kirghiz peoples, found features that indicate that Central Asian mtDNA sequences have features intermediate between European and eastern Asian sequences, possibly as a result of the mixing between Europeans and eastern Asians in central Asia enhanced during the Silk Road trade. 

Three frozen mummies found in a burial platform in the Andes at 22,000 feet (6,706 meters) on the peak of Argentina's Mount Llullaillaco, the world's highest archaeological site and one of the world's highest volcanoes, have revealed some DNA secrets. The bodies may have remained frozen since they were placed there and sacrificed about 500 years ago. They were discovered by archaeologist Johan Reinhard (who also discovered a frozen Inca mummy on Peru's Mount Ampato in 1995 that came to be known as the Ice Maiden). ABC has more information on the Mount Llullaillaco children and reveals that DNA from one of the three matches that of a Peruvian woman living in Washington DC. (Other cases of frozen or preserved bodies exist in Canada and Europe including the famous five millenia-old Oetzi mummy found in the Tyrol on the Austrian-Italian border in 1991 and now in a museum in Bolzano. Results of DNA tests on the Oetzi mummy published in 1994 show that he was most closely mitochondrially related to contemporary central and northern European populations, or, as Prof. Sykes might put it, to the clan of Katrine whose progenitor lived 10,000 years earlier on the Southern slopes that run gently down to the sea near Venice. As the glaciers retreated and the snows fell only in the winter in the Alps, Katrine's descendents ventured farther North into the valleys to hunt marmot and the ibex. When it became warmer still they crossed the great range and moved up the valley of the Rhine to meet the North Sea. Katrine's clan is still found in the Alps as well as over much of Northern Europe. 

mtDNA variations among Greenland Eskimos found by Juliette Saillard et al were reported in The American Society of Human Genetics in 2000. After testing 82 Eskimos from Greenland the analysis showed that the Siberian and Greenland ancestral mtDNA pools separated at a time when a Neo-Eskimo culture emerged and backed up the theory that present-day Greenland Eskimos essentially descend from Alaskan Neo-Eskimos. 

A large-scale mtDNA forensic project is underway in the USA to identify Korean War servicemens' remains. Half a century after the conflict, approximately 8,100 allied servicemen remain unaccounted for of which 6,318 served in the U.S. Army. The project has still to find representatives from more than 4,000 soldiers so that one can be tested.

5.3.  Other modern DNA testing activities

Canadian authorities recently announced that three of 43 unknown victims of the Titanic disaster whose remains lie in a graveyard in Halifax, Nova Scotia are being partially exhumed to see if they can be identified. 



XIX International Congress Of Genetics