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Newsletter #4

THE HUMAN GENOME DIVERSITY PROJECT: PAST, PRESENT AND FUTURE

L. LUCA CAVALLI-SZORZA

The Human Genome Project, in accomplishing its goal of sequencing one human genome, heralded a new era of research, a component of which is the systematic study of human genetic variation. Despite delays, the Human Genome Diversity Project has started to make progress in understanding the patterns of this variation and its causes, and also promises to provide important information for biomedical studies.

Access full opinion piece at Nature Reviews Genetics 6, 333-340 (2005).
Author biography
L. Luca Cavalli-Sforza joined the Department of Genetics of Stanford Medical School, USA, in 1971. Since becoming emeritus in 1992, he has divided his time between Stanford and his former laboratory of the Italian National Research Council that is associated with the University of Pavia. Originally a bacterial geneticist, he shifted gradually after 1951 to human population genetics. By comparing demographical and genetic observations, he showed that random genetic drift is responsible for a significant part of human variation. He developed the first methods for reconstructing evolutionary trees of modern humans from a large variety of genetic markers in living populations, and connected these trees with archaeological information, prehistorical or historical radiations and important cultural evolutionary events.


Sorenson Genomics to Identify Tsunami Victims in Thailand; Utah Laboratory Assisting Thai Government to Perform DNA Analysis of Victims Most Difficult to Identify

(Jan. 31, 2005)--Sorenson Genomics and Pacific Rim Consulting announced today that they are partnering to assist the Thai government in determining the identities of victims of the tsunami that struck the coastlines of Thailand and 11 other countries on December 26, 2004. The number of estimated victims in Thailand is 5,300 and growing.

Read news feed on Forbes Business Wire.

Self-Healing DNA Discoveries. Three astonishing experiments with DNA prove that it can heal itself according to the "feelings" of the individual as reported recently by GREGG BRADEN. Forum article at Global Healing Center.


DNA and Music. What do they have to do with each other? Both share the so-called "1/f correlation" structure. So musicians have scored DNA sequences and you can now hear what the secret code of life sounds like on a Moog synthesizer. A good place to start is the DNA and Protein Music site, which has samples, links, literature and CD suggestions.

DNA Shows Celtic Hero Somerled's Viking Roots

IAN JOHNSTON
SCIENCE CORRESPONDENT
The Scotsman. Scottish News Direct from Scotland
April 26, 2005

A historic Celtic hero credited with driving the Vikings out of western Scotland was actually descended from a Norseman, according to research by a leading DNA expert.

According to traditional genealogies, Somerled, who is said to have died in 1164 after ousting the Vikings from Argyll, Kintyre and the Western Isles, was descended from an ancient royal line going back to when the Scots were living in Ireland.

But , an Oxford University professor of human genetics who set up a company called Oxford Ancestors to research people�s DNA past, has discovered that Somerled�s Y-chromosome - which is inherited through the male line - is of Norse origin....
Read complete article at news.scotsman.com.


The X chromosome: not just her brother's keeper
Eric J Vallender, Nathaniel M Pearson & Bruce T Lahn

The X chromosome has traditionally been characterized as a conscientious sister to her derelict brother that is the Y. Beyond dutifully maintaining the family heritage, however, the X has developed its own unique identities. Now, the complete sequence of the human X allows us to appreciate its distinctiveness at an unprecedented resolution.

Access full article at Nature Genetics.


Experts Say Genealogy Can Be Traumatic
Read article in M&C Sci/Tech (U.K.).


Geographic Society Is Seeking
A Genealogy of Humankind


By NICHOLAS WADE (NYT)
Late Edition - Final , Section A , Page 16 , Column 5
National Desk, April 13, 2005

A five-year project to reconstruct a genealogy of the world's populations and the migration paths of early humans from their ancestral homeland in Africa will be started today by the National Geographic Society and I.B.M., the society said in a ... The goal of the program is to collect 100,000...

Access article in archives of the New York Times. Read article in The Arizona Republic.


What's in the 'junk' of the genome?
Veronique Kiermer

A large-scale analysis of the human transcriptome with unprecedented resolution raises the possibility that large numbers of transcripts are produced from regions of the genome considered as intergenic in the current annotation.

Access full text at Nature Methods 2, 328 (2005).


Sorenson Molecular Genealogy Foundation Announces
Database Expansion, Upgrade of Free Ancestry Web Site


SALT LAKE CITY--(BUSINESS WIRE)--March 28, 2005--Sorenson Molecular Genealogy Foundation (SMGF), a non-profit research organization building the world's most comprehensive database of correlated genetic and genealogical information, today announced that it has significantly expanded the data available on its free Web site and enhanced the research tools for visitors.

People researching their family tree on the foundation's interactive Web site, www.smgf.org, can now query a database of more than 12,000 individual genetic profiles linked to genealogies of more than 480,000 ancestors representing more than 7,900 surnames around the world. On the Web site, anyone may enter the numerical values from their own DNA profile into the database's drop-down menus to search for likely ancestors. This personal DNA profile is obtained by an inexpensive cheek-swab genetic test offered by many laboratories.

Tools on the foundation's Web site are further refined as well. "We have improved the Y-chromosome database search function to give users greater versatility in customizing searches and interpreting results," said Ugo A. Perego, director of operations for SMGF. "Also, we have enhanced the database's genetic matching capabilities to increase the number of results from each query."

The new science of molecular genealogy is transforming the popular hobby of ancestry research because it links individuals to genealogies using genetic profiles, which eliminates guesswork caused by surname changes and incomplete historical records.

Assembling and publishing a free, genetic-genealogy database was conceived and funded by billionaire biotechnology pioneer James LeVoy Sorenson, whose visionary goal is to map the entire human family tree through genetics.

To build the database, the foundation collects samples of DNA from people all over the world who already have written ancestry records. Then, both the DNA profiles and genealogical information are linked into the database. SMGF encourages people to use its Internet database and contribute their own family history records and DNA profiles to the project. For more information, visit www.smgf.org.

About Sorenson Molecular Genealogy Foundation
Sorenson Molecular Genealogy Foundation is a non-profit research organization with the mission: To collect DNA samples within a genealogical context for creating the world's most comprehensive correlated genetic and genealogical database. To provide the funding necessary to construct genetic tools from the information contained within the database for the purpose of family history research. And, to maintain the integrity of the database content and to ensure it is used for purposes that will promote peace, compassion and fellowship among humankind.


Anthropology: The earliest toothless hominin skull

DAVID LORDKIPANIDZE, ABESALOM VEKUA, REID FERRING, G. PHILIP RIGHTMIRE, JORDI AGUSTI, GOCHA KILADZE, ALEXANDER MOUSKHELISHVILI, MEDEA NIORADZE, MARCIA S. PONCE DE LE�N, MARTHA TAPPEN & CHRISTOPH P. E. ZOLLIKOFER

Georgian State Museum, Tbilisi 0105, Georgia
Institute of Palaeobiology, Tbilisi 0104, Georgia
Department of Geography, University of North Texas, Denton, Texas 76203, USA
Binghamton University, Binghamton, New York 13902, USA
Institut de Paleontologia M. Crussafont, 08201 Sabadell, Spain
Georgian Archaeological Centre, Tbilisi 0102, Georgia
Anthropologisches Institut, Universit�t Z�rich, 8057 Z�rich, Switzerland
Department of Anthropology, University of Minnesota, Minneapolis, Minnesota 55455, USA

The site of Dmanisi in the Eurasian republic of Georgia has yielded striking hominin, faunal and archaeological material as evidence for the presence of early Homo outside Africa 1.77 million years ago, documenting an important episode in human evolution. Here we describe a beautifully preserved skull and jawbone from a Dmanisi hominin of this period who had lost all but one tooth several years before death. This specimen not only represents the earliest case of severe masticatory impairment in the hominin fossil record to be discovered so far, but also raises questions about alternative subsistence strategies in early Homo.

Access full text at Nature.


Does DNA Raise More Questions or Answers for Lost Family Records?

Genealogy doesn't often make news headlines, but in recent months it has been a debated topic in newspapers worldwide. Why? Genetics and genealogy have merged into an amazing new research field which allows researchers to prove family connections beyond all doubt. Nature Magazine recently reported that DNA testing was used to support the probability that Thomas Jefferson fathered the last child of his slave Sally Hemmings.

For more famous cases, see .


DNA Solves Mystery of Gibraltar's Macaques

WASHINGTON (AFP) - (Apr. 26, 2005) A DNA investigation has solved the mysterious origin of Gibraltar's Barbary macaques, the only free-ranging monkeys in Europe, according to a report.
The approximately 200 macaques alive today had nearly disappeared in 1942, and Britain's then-prime minister, Winston Churchill, ordered that their numbers be replenished or risk fulfilling a folklore belief that Britain would lose Gibraltar if the macaques ever died out.

"Our project was designed as a test case for conservation genetics," said Robert Martin, lead author of the study released by the Proceedings of the National Academy of Sciences.

"The Gibraltar colony of Barbary macaques provided an ideal example of genetic isolation of a small population, which is now a regular occurrence among wild primate populations because of forest fragmentation.

"To our surprise, we found a relatively high level of genetic variability in the Gibraltar macaques. This is now explained by our conclusion that the population was founded with individuals from two genetically distinct populations in Algeria and Morocco," said Martin, a primatologist and provost of the Field Museum in Chicago.

Some scientists believe the Barbary macaques were first brought to Gibraltar by the Moors, who occupied Spain between 711 and 1492. On the other hand, it is possible that the original Gibraltar macaques were a remnant of populations that had spread throughout southern Europe during the Pliocene, up to 5.5 million years ago.

"Our findings reveal that the Algerian and Moroccan populations are genetically very distinct and that there are major genetic differences even within Algeria," said Lara Modolo, of University of Zurich's Anthropological Institute.

"Mixing of founders from Algeria and Morocco explains why the Gibraltar macaques have kept a surprisingly high level of genetic variability despite a long period of isolation.

"At the same time, the large degree of genetic difference seen between various wild populations tells us that we should be cautious about translocating animals from one area to another," added Modelo, another co-author of the study.

Gibraltar is 5.8 square kilometers (2.2 square miles) of British territory, strategically located at the mouth of the Mediterranean at the southern tip of Spain.

In genetic control of disease, does 'race' matter? Not according to an opinion piece in Nature Genetics 36, 1243-44 (2004) by DAVID B. GOLDSTEIN & JOEL N. HIRSCHHORN.

ABSTRACT. As geneticists begin to identify gene variants asociated with common diseases and responses to trteatment, it is increasingly important to determine whether these variants have consistent effects across different 'racial' or 'ethnic' groups. Until recently, too little was known about either disease genetics or pharmacogenetics to make a detailed assessment. Now, a new study reviewing 43 disease-associated genes suggests that the effects of gene variants may be largely consistent across different 'racial' or 'ethnic' groups.

NEW YORK (Jan. 16, 2005) -- Genes Promoting Fertility Are Found in Europeans. By NICHOLAS WADE. Researchers in Iceland have discovered a region in the human genome that, among Europeans, appears to promote fertility, and maybe longevity as well. . . . More from the article in the New York Times.