Newsletter #10

Old Theories about Polynesians
Come Home to Roost with DNA

Biological anthropologist Elizabeth Matisoo-Smith of the University of Auckland in New Zealand has come up with proof, in the form of chicken bones, that show Polynesians were in America long before Christopher Columbus showed up.

Her dating of chicken bones found in Chile, shows before the Spanish arrived, Polynesians had gone there, had given the American Indians chickens and probably got sweet potato in exchange.

An article about the discovery appears in Nature 447/7145:620, "DNA reveals how the chicken crossed the sea," by Brendan Borrell.

The origins and travels of the Polynesians were the lifelong study of Harvard biologist Barry Fell, a native New Zealander who was widely shunned by other academicians for his theories of diffusion across the Pacific. As early as the 1970s, geographer George F. Carter offered evidence the Polynesians brought chickens to South America and took away sweet potatoes, among many other exchanges of culture.

In 1992, Oxford geneticist Bryan Sykes disproved the theory put forth by Thor Heyderdaal with the balsam boat called Kon-Tiki that American Indians sailed across the Pacific from East to West to found Polynesia. The chicken bones support what diffusionists have maintained for decades, that cultural influences ran in the opposite direction.

Genealogists Have Responsibility to Communicate with Other Family Members: Genetic Disease Experts

Communicating genetic information in families � a review of guidelines and position papers

by Laura E Forrest et al.

European Journal of Human Genetics (March 2007) 15, 612�618.

According to genetics educators at Royal Childrens Hospital in Australia, you have a moral responsibility to let other family members know of any genetic risks or predisposition to disease you have learned about in your genealogy research. The study is the first to assemble guidelines for genetic genealogists in this area.

ABSTRACT

This article aims to review ethical and clinical guidelines and policies addressing the communication of genetic information in families. Websites of national and regional bioethics committees, national human genetics societies, international health organisations, genetic interest groups and legal recommendations committees were searched for guidelines and policies. The databases Medline, Web of Science and Google Scholar were also utilised to search for additional guidelines relating to the communication of genetic information in families. The guidelines and policies included in this review are limited to those available in English. The search resulted in guidelines from 18 international, regional and national organisations from six countries pertaining to family communication of genetic information. The following ideals were common in their guidelines: (1) individuals have a moral obligation to communicate genetic information to their family members; (2) genetic health professionals should encourage individuals to communicate this information to their family members; and (3) genetic health professionals should support individuals throughout the communication process. The difference between the organisations' guidelines was the inclusion of information about the role of the health professional in supporting clients during the process of communicating genetic information to their family members. Only two recommendations suggested that the health professional should support their clients by identifying at-risk family members, but more guidelines recommended that directive counselling should be undertaken to encourage clients to communicate genetic information to their family members. In conclusion, the guidelines provide an overview of the role that genetic health professionals may undertake; however, there are gaps that need to be addressed.

Read article.

Alu Insertions in X Chromosome
Hold Promise of Becoming
Next Wave in DNA Genealogy Testing

The X chromosome Alu insertions as a tool for human population genetics: data from European and African human groups

By Georgios Athanasiadis et al.

European Journal of Human Genetics (2007) 15, 578�583.

Alu elements are the most abundant mobile elements in the human genome (approx1 100 000 copies). Polymorphic Alu elements have been proved to be useful in studies of human origins and relationships owing to two important advantages: identity by descent and absence of the Alu element known to be the ancestral state. Alu variation in the X chromosome has been described previously in human populations but, as far as we know, these elements have not been used in population relationship studies. Here, we describe the allele frequencies of 13 'young' Alu elements of the X chromosome (Ya5DP62, Ya5DP57, Yb8DP49, Ya5a2DP1, Yb8DP2, Ya5DP3, Ya5NBC37, Yd3JX437, Ya5DP77, Ya5NBC491, Yb8NBC578, Ya5DP4 and Ya5DP13) in six human populations from sub-Saharan Africa (the Ivory Coast), North Africa (Moroccan High Atlas, Siwa oasis in Egypt, Tunisia), Greece (Crete Island) and Spain (Basque Country). Eight out of 13 Alu elements have shown remarkably high gene diversity values in all groups (average heterozygosities: 0.342 in the Ivory Coast, 0.250 in North Africa, 0.209 in Europe). Genetic relationships agree with a geographical pattern of differentiation among populations, with some peculiar features observed in North Africans. Crete Island and the Basque Country show the lowest genetic distance (0.0163) meanwhile Tunisia, in spite of its geographical location, lies far from the other two North African samples. The results of our work demonstrate that X chromosome Alu elements comprise a reliable set of genetic markers useful to describe human population relationships for fine-scale geographical studies.

Don't Ask If You Don't Want to Be Told

Y Chromosome and Surname Research

Peter de Knijff

European Journal of Human Genetics (2007) 51:509-510

The finding of a rare African male line in Yorkshire, England, demonstrates that a Y-chromosome-only reconstruction of geographic origins can be seriously misleading. It also illustrates how a hitherto unknown secret pops up during a rather innocent pedigree reconstruction by means of Y-chromosome testing. As such it once again shows the importance of a general concept often ignored by participants of pedigree-based Y-testing: if you do not want to know, do not have yourself tested . . . . Read article.

Joan of Arc's relics exposed as forgery

Nature 446, 593 (5 April 2007)

Perfume experts help unmask remains as Egyptian mummy

J. FOUCHET/SIPA/NEWSCOM

A vanilla smell of the alleged remains from Joan of Arc suggested natural decomposition, not burning.

The relics of St Joan of Arc are not the remains of the fifteenth-century French heroine after all, according to European experts who have analysed the sacred scraps. Instead, they say the relics are a forgery, made from the remains of an Egyptian mummy.

Joan was burned at the stake in 1431 in Rouen, Normandy. The relics were discovered in 1867 in a jar in the attic of a Paris pharmacy, with the inscription "Remains found under the stake of Joan of Arc, virgin of Orleans". They were recognized by the Church, and are now housed in a museum in Chinon that belongs to the Archdiocese of Tours.

Philippe Charlier, a forensic scientist at Raymond Poincar� Hospital in Garches, near Paris, obtained permission to study the relics from the French church last year. He says he was "astonished" by the results. "I'd never have thought that it could be from a mummy."

Charlier and his colleagues didn't have much to work with: the relics comprise a charred-looking human rib, chunks of what seem to be carbonized wood, a 15-centimetre fragment of linen and a cat femur � consistent with the medieval practice of throwing black cats onto the pyre of supposed witches.

The researchers used a battery of techniques to investigate the remains, including mass, infrared and atomic-emission spectrometry, electron microscopy, pollen analysis and, unusually, the help of the leading 'noses' of the perfume industry: Sylvaine Delacourte from Guerlain, and Jean-Michel Duriez from Jean Patou.

Odour analysis is a new technique for palaeopathology, but Charlier says that he hit on the idea after being struck by the variety of odours of other historical corpses. Delacourte and Duriez sniffed the relics and nine other samples of bone and hair from Charlier's lab without being told what the samples were. They were also not allowed to confer. Both smelled hints of 'burnt plaster' and 'vanilla' in the samples from the relics.

The plaster smell was consistent with the fact that Joan of Arc was burnt on a plaster stake, not a wooden one, to make the whole macabre spectacle last longer. But vanilla is inconsistent with cremation. "Vanillin is produced during decomposition of a body," says Charlier. "You would find it in a mummy, but not in someone who was burnt."

Other, more conventional, evidence pointing to a mummy origin quickly accumulated. Microscopic and chemical analysis of the black crust on the rib and on the cat femur showed that they were not in fact burnt, but were impregnated with a vegetal and mineral matrix, with no trace of muscle, skin, fat or hair. "I see burnt remains all the time in my job," says Charlier. "It was obviously not burnt tissue."

The black material was, however, consistent with an embalming mix of wood resins, bitumen and chemicals such as malachite. It was also consistent with gypsum, which gives the mix its plaster smell. The linen cloth had a coating characteristic of mummy wrappings. And large amounts of pine pollen were present. Pine trees did not grow in Normandy at the time that Joan of Arc was killed, but pine resin was used widely in Egypt during embalming.

It seems there's a caveman in all of us!

By GEOFFREY LEAN

Daily Mail, April 4, 2007

Where do we come from? Just asking the question is part of what defines us as human beings, explaining our fascination with genealogy and our family trees.

And the most intriguing question of all, and much the hardest to resolve, is where we sprang from as humans in the first place.

The discovery of a 40,000-year-old human fossil raises fascinating questions on where we actually come from



Up to now, the dominant view has been that we are all descended from a small group of direct ancestors who emerged from a single 'cradle of civilisation' in Africa, fully evolved as modern humans, sometime in the past 100,000 years. Some scientists even believe that we all descend from a single woman, an African Eve.

The theory is that these early Homo sapiens gradually spread around the globe, wiping out any older species, like the Neanderthals, without interbreeding with them.

But a new discovery suggests that it is not as simple as that. Scientists yesterday published the results of tests on bones, accidentally found by workmen in a Chinese cave, which they say shows they are the remains of a hybrid human, a cross between Homo sapiens and an earlier human species.

Radiocarbon dating suggests that the bones - found in 34 fragments in Tianyuan cave, about 40 miles southwest of Beijing - are between 42,000 and 39,000 years old, making them the oldest found in China.

It places them at a critical moment in time for the spread of Homo sapiens around the world. They are thought to have belonged to one of the first modern humans to have lived in East Asia.

The scientists, led by Professor Erik Trinkaus of Washington University in St Louis, Missouri - say that this 'proves' that 'modern humans inter-bred with local archaic [ancient] humans as they spread'. If this is right, then we all have a bit of the caveman - or Neanderthal - in our genes. Read article.

Stalking Strangers for DNA

By AMY HARMON
The New York Times
April 2, 2007

They swab the cheeks of strangers and pluck hairs from corpses. They travel hundreds of miles to entice their suspects with an old photograph, or sometimes a free drink. Cooperation is preferred, but not necessarily required to achieve their ends.

Prompted by the advent of inexpensive genetic testing, they are tracing their family trees with a vengeance heretofore unknown.

�People who realize the potential of DNA,� said Katherine Borges, a co-founder of the International Society of Genetic Genealogy, �will go to great lengths to get it.�

Unlike paper records, which can be hard to come by and harder to verify, a genetic test can quickly and definitively tell if someone is a relative. But not all potential kin are easily parted from their DNA. Some worry about revealing family secrets. Some fear their sample could be used to pry into other areas of their lives. Some just do not want to be bothered . . . . Read article.

Classic Work on Classic Scientist

A Genetic and Cultural Odyssey: The Life and Work of L Luca Cavalli-Sforza, by Linda Stone and Paul F Lurquin is still available from Columbia University Press.

Regarded by many as one of the most important scientists of our time, L. Luca Cavalli-Sforza has changed the way we understand human genetics and culture. Drawing links between genetic and cultural development, Cavalli-Sforza has made groundbreaking discoveries in the evolution of Homo sapiens, prehistoric migration, and the origins of human differentiation. Based on interviews with his colleagues and analyses of his work, Stone and Lurquin's biography, the first on the scientist, offers an insightful portrait of Cavalli-Sforza's life and ideas.

Purchase.

Ancient DNA closes on human uniqueness: The base nature of Neanderthals

R A Foley and M Miraz�n Lahr

Heredity (2007) 98, 187�188.

Evolutionary biology is by its nature comparative, but a key question in many studies is what should provide the comparative framework. In human evolutionary genetics, our closest living relative, the chimpanzees, have provided the closest comparison, but now there is a possibility that Neanderthals � closer to us, in evolutionary terms, by more than 4 million years � could provide a better framework. Read Article

How About Those Vikings?

Human migration: reappraising the Viking image

By B. McEvoy and C.J. Edwards

Heredity (2005) 95: 111�112.

New genetic analyses throw light on how 'Northmen', better known today as Vikings, came to colonize the islands of the North Atlantic.

Vikings still hold a special place in the popular imagination as warriors and raiders, due in no small measure to the monastic literati of the day . . . Read Article


The longevity of Y chromosomes: The Human Y chromosome is not dead (yet)

By P. de Knijff

Heredity (2006) 97, 377�378.

There are those who want us to believe that, given sufficient time, the human Y-chromosome (HY) will disappear (Graves, 2006). Their reasoning is simple and straightforward. Owing to lack of recombination the HY has degenerated in size and number of genes during its 300 million years of splendid isolation and there is nothing to prevent this process from continuation towards its impending demise. Still, although there are many strong arguments in favor of this hypothesis, there might be some hope.

This hope is based on two different lines of research.... Read article

First Americans Arrived Recently, Settled Pacific Coast, DNA Study Says

Stefan Lovgren
for National Geographic News
February 2, 2007

A study of the oldest known sample of human DNA in the Americas suggests that humans arrived in the New World relatively recently, around 15,000 years ago.

The DNA was extracted from a 10,300-year-old tooth found in a cave on Prince of Wales Island off southern Alaska in 1996.

The sample represents a previously unknown lineage for the people who first arrived in the Americas.

The findings, published last week online in the American Journal of Physical Anthropology, shed light on how the descendants of the Alaskan caveman might have spread.

Comparing the DNA found in the tooth with that sampled from 3,500 Native Americans, researchers discovered that only one percent of modern tribal members have genetic patterns that matched the prehistoric sample.

Those who did lived primarily on the Pacific coast of North and South America, from California to Tierra del Fuego at the southernmost tip of South America.

This suggests that the first Americans may have spread through the New World along a coastal route.


Study Raises Possibility of Jewish Tie for Jefferson

By NICHOLAS WADE
New York Times
February 28, 2007

Was Thomas Jefferson the first Jewish president? Researchers studying Jefferson�s Y chromosome have found it belongs to a lineage that is rare in Europe but common in the Middle East, raising the possibility that the third president of the United States had a Jewish ancestor many generations ago.

Geneticists at the University of Leicester in England, led by Turi E. King and Mark A. Jobling, have now undertaken a survey of the branch or lineage to which Jefferson�s Y chromosome belongs. All Y chromosomes fall on branches of a single tree, descended from one man in the ancestral human population.

Jefferson�s Y chromosome belongs to the branch designated K2, which is quite rare. It occurs in a few men in Spain and Portugal and is most common in the Middle East and eastern Africa, being carried by about 10 percent of men in Oman and Somalia, the geneticists report in the current issue of The American Journal of Physical Anthropology.

The fact that K2 is common in the Middle East, however, raises the possibility that Jefferson had a Jewish ancestor, Dr. Jobling said. Jewish Y chromosomes resemble those of Middle Eastern peoples, and the Jewish Diaspora is one way Middle Eastern chromosomes entered Europe. But because so little work has been done on the rare K2 lineage, �our research raises the possibility, but doesn�t help anyone to answer it either way,� Dr. Jobling said.

Michael Hammer, a geneticist at the University of Arizona, said he had compared the Jefferson Y chromosome with those in his database of Y chromosomes and found close matches with four other individuals. There was a perfect match to the Y chromosome of a Moroccan Jew, and matches that differed by two mutations from another Moroccan Jew, a Kurdish Jew and an Egyptian.

Read the article.

African Male Lineage Discovered in Yorkshire, England

By Turi E King et al.

European Journal of Human Genetics (2007) 15, 288�293, 24 January 2007

The presence of Africans in Britain has been recorded since Roman times, but has left no apparent genetic trace among modern inhabitants. Y chromosomes belonging to the deepest-rooting clade of the Y phylogeny, haplogroup (hg) A, are regarded as African-specific, and no examples have been reported from Britain or elsewhere in Western Europe. We describe the presence of an hgA1 chromosome in an indigenous British male; comparison with African examples suggests a Western African origin. Seven out of 18 men carrying the same rare east-Yorkshire surname as the original male also carry hgA1 chromosomes, and documentary research resolves them into two genealogies with most-recent-common-ancestors living in Yorkshire in the late 18th century. Analysis using 77 Y-short tandem repeats (STRs) is consistent with coalescence a few generations earlier. Our findings represent the first genetic evidence of Africans among 'indigenous' British, and emphasize the complexity of human migration history as well as the pitfalls of assigning geographical origin from Y-chromosomal haplotypes.

U.S. Set to Begin a Vast Expansion of DNA Sampling

By JULIA PRESTON
New York Times
February 5, 2007

The Justice Department is completing rules to allow the collection of DNA from most people arrested or detained by federal authorities, a vast expansion of DNA gathering that will include hundreds of thousands of illegal immigrants, by far the largest group affected.

The new forensic DNA sampling was authorized by Congress in a little-noticed amendment to a January 2006 renewal of the Violence Against Women Act, which provides protections and assistance for victims of sexual crimes. The amendment permits DNA collecting from anyone under criminal arrest by federal authorities, and also from illegal immigrants detained by federal agents.

Skull Supports Theory of Human Migration

By JOHN NOBLE WILFORD
New York Times, January 12, 2007

From a new analysis of a human skull discovered in South Africa more than 50 years ago, scientists say they have obtained the first fossil evidence establishing the relatively recent time for the dispersal of modern Homo sapiens out of Africa.

Scientists used radiation absorbed by sand in this skull to find its age.

The migrants appeared to have arrived at their new homes in Asia and Europe with the distinct and unmodified heads of Africans.

An international team of researchers reported yesterday that the age of the South African skull, which they dated at about 36,000 years old, coincided with the age of the skulls of humans then living in Europe and the far eastern parts of Asia, even Australia. The skull also closely resembled skulls of those humans. Read article.

Asian Haplogroups N & O Spread After Native Americans Left Asia About 12,000 Years Ago

European Journal of Human Genetics (2007) 15, 204�211.

A counter-clockwise northern route of the Y-chromosome haplogroup N from Southeast Asia towards Europe

S. Rootsi et al.

A large part of Y chromosome lineages in East European and East Asian human populations belong to haplogroup (hg) NO, which is composed of two sister clades N-M231 and O-M175. The O-clade is relatively old (around 30 thousand years (ky)) and encompasses the vast majority of east and Southeast Asian male lineages, as well as significant proportion of those in Oceanian males. On the other hand, our detailed analysis of hg N suggests that its high frequency in east Europe is due to its more recent expansion westward on a counter-clock northern route from inner Asia/southern Siberia, approximately 12�14 ky ago. The widespread presence of hg N in Siberia, together with its absence in Native Americans, implies its spread happened after the founder event for the Americas. The most frequent subclade N3, arose probably in the region of present day China, and subsequently experienced serial bottlenecks in Siberia and secondary expansions in eastern Europe. Another branch, N2, forms two distinctive subclusters of STR haplotypes, Asian (N2-A) and European (N2-E), the latter now mostly distributed in Finno-Ugric and related populations. These phylogeographic patterns provide evidence consistent with male-mediated counter-clockwise late Pleistocene�Holocene migratory trajectories toward Northwestern Europe from an ancestral East Asian source of Paleolithic heritage.

Healthcare Providers Challenged to Educate Themselves on Genetics

Nature Reviews Genetics 8, 151-157 (February 2007)

Alan E. Guttmacher et al.

To biomedical researchers, this is the 'genome era'. Advances in genetics and genomics such as the sequence of the human genome, the human haplotype map, open access databases, cheaper genotyping and chemical genomics have already transformed basic and translational biomedical research. However, for most clinicians, the genome era has not yet arrived. For genomics to have an effect on clinical practice that is comparable to its impact on research will require advances in the genomic literacy of health-care providers. Here we describe the knowledge, skills and attitudes that genomic medicine will require, and approaches to integrate them into the health-care community.

DNA Ties Together Scattered Peoples

Data on descendants of the Chumash spur new ideas about the first settlers of the Americas

By Steve Chawkins
Times Staff Writer

Los Angeles Times, September 11, 2006

Over the years, a couple of dozen descendants of the Chumash Indians have complied with the odd requests of their old friend John Johnson, a leading scholar of the tribe's culture and head of the anthropology department at the Santa Barbara Museum of Natural History. After all, what harm could come from parting with a few of their hairs or letting him swab the inside of their cheeks for a saliva sample?

What emerged from Johnson's DNA studies are tantalizing clues that link some of today's Chumash with settlers of coastal regions from Alaska to Tierra del Fuego more than 10,000 years ago. Read article.


Ethnic Groups Proved to Have Varying Responses to Complex Diseases

Nature Reviews Genetics 8, 91 (February 2007) |

Common genetic variants account for differences in gene expression among ethnic groups

Spielman, R. S. et al.

Polymorphic genetic variants contribute to differences between individuals on the cellular level in producing proteins involved in disease. These authors analyzed 4,000 genes from several ethnic groups. Around 1,000 of these genes showed differences between populations. This finding provides an important step on the way to understanding the genetics of susceptibility to complex diseases.

Y-chromosomal Evidence for a Limited Greek Contribution to the Pathan Population of Pakistan

E3b Lineages are Key

European Journal of Human Genetics (2007) 15, 121�126; published online 18 October 2006

By Firasat, S. et al.

Three Pakistani populations residing in northern Pakistan, the Burusho, Kalash and Pathan claim descent from Greek soldiers associated with Alexander's invasion of southwest Asia. Earlier studies have excluded a substantial Greek genetic input into these populations, but left open the question of a smaller contribution. We have now typed 90 binary polymorphisms and 16 multiallelic, short-tandem-repeat (STR) loci mapping to the male-specific portion of the human Y chromosome in 952 males, including 77 Greeks in order to re-investigate this question. In pairwise comparisons between the Greeks and the three Pakistani populations using genetic distance measures sensitive to recent events, the lowest distances were observed between the Greeks and the Pathans. Clade E3b1 lineages, which were frequent in the Greeks but not in Pakistan, were nevertheless observed in two Pathan individuals, one of whom shared a 16 Y-STR haplotype with the Greeks. The worldwide distribution of a shortened (9 Y-STR) version of this haplotype, determined from database information, was concentrated in Macedonia and Greece, suggesting an origin there. Although based on only a few unrelated descendants, this provides strong evidence for a European origin for a small proportion of the Pathan Y chromosomes.