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What is genetic anthropology?
Genetic anthropology is an emerging discipline that combines DNA and physical evidence to reveal the history of ancient human migration. It seeks to answer the questions, "Where did we come from, and how did we get here?"
DNA studies indicate that all modern humans share a common female ancestor
who lived in Africa about 140,000 years ago, and all men share a common male
ancestor who lived in Africa about 60,000 years ago. These were not the only humans who lived in these eras, and
the human genome still contains many genetic traits of their contemporaries.
Humanity's most recent common ancestors are identifiable because their
lineages have survived by chance in the special pieces of DNA that are passed
down the gender lines nearly unaltered from one generation to the next. These
ancestors are part of a growing body of fossil and DNA evidence indicating
that modern humans arose in sub-Saharan Africa and began migrating, starting
about 65,000 years ago, to populate first southern Asia, China, Java, and later
Europe. Each of us living today has DNA that contains the story of our ancient
The Story of Human Migration Also is Told in the DNA of Parasites and Pets.
Recent studies of bacteria called Streptococcus mutans, which
cause tooth decay, reveal that distinct lineages of the bacteria exist
in different geographic regions of the world. The geographical distribution
of these lineages reflects the pattern of human migration from the ancestral
homeland in Africa. S. mutans is transmitted almost entirely
from human mother to child during birth, resulting in the preservation of its lineages over thousands of years. S. mutans is only
one of many types of human parasites whose DNA lineages follow the pattern
of human migration.
The correlation with human migration is present but less distinct for pets.
Studies of domestic cats’ mtDNA reveal that they share a most-recent common ancestor who lived in the Middle East about 70,000 to 100,000 years ago. Wild cats, motivated by the desire to get mice and other food from humanity’s first farmers, seem to have domesticated themselves about 10,000 to 12,000 years ago. Genetic markers in house cats’ mtDNA reveal that the cats followed the same migratory patterns as early human farmers.
How do genes tell the story of our ancient ancestors' migrations?
When DNA is passed from one generation to the next, most of it is mixed by
the processes that make each person unique from his or her parents. Some
special pieces of DNA, however, remain virtually unaltered as they pass
from parent to child. One of these pieces is carried by the Y chromosome, which
is passed only from father to son. Another piece, mitochondrial DNA (mtDNA), is
passed (with few exceptions) only from mother to child. Since the DNA in the
Y chromosome does not mix with other DNA, it is like a genetic surname that
allows men to trace their paternal lineages. Similarly, mtDNA allows both men and women to trace their maternal lineages.
Both the Y chromosome DNA and mtDNA are subject to occasional harmless mutations that become inheritable genetic markers. After several generations, a particular genetic marker is carried by almost all male and female inhabitants of the region in which it arose. When people leave that region, they carry the marker with them. By studying the genes of many different indigenous populations, scientists can trace when and where a particular marker arose. Each marker contained in a person’s DNA represents a location and migration pattern of that person’s ancient ancestors.
For example, roughly 70% of English men, 95% of Spanish men, and 95%
of Irish men have a distinctive Y-chromosome mutation known as M173. The distribution
of people with this mutation, in conjunction with other DNA analyses, indicates
that the men's ancestors moved
north out of Spain into England and Ireland at the end of the last ice age.
Are Neanderthals part of modern human ancestry?
Neanderthals inhabited Europe and parts of western Asia starting about 230,000
years ago. They cohabited with modern humans for thousands of years
before becoming extinct about 29,000 years ago. Since 1999, several DNA samples
have been extracted from Neanderthal fossils and sequenced, allowing scientists
to compare large
sections of the Neanderthal genome with that of modern humans. This is possible
because DNA fragments can survive for 50,000 to 100,000 years.
Neanderthal DNA sequences were found to be about 99.5% similar to
the modern human genome, indicating that modern humans and Neanderthals had
a common ancestor about 700,000 years ago. The genetic difference
between Neanderthals and modern humans, however, was on average about three
times greater than the genetic difference between any two modern humans. Studies
of nearly 80,000 people found no traces of mutations known to be common
in Neanderthal mtDNA. These differences indicate no significant
interbreeding between Neanderthals and modern humans after the two species diverged.
How is the age of each mtDNA or Y chromosome ancestor determined?
Scientists assume that random mutations in specific pieces of human
DNA occur at a constant rate. A comparative study of mtDNA from people of many
different geographical regions reveals the number and order of mutations that
have occurred since the most recent common ancestor. Once the rate of mutations
is determined, the time at which any given mutation arose can be determined
by counting the number of mutations that have occurred since its appearance.
Estimates of the mtDNA mutation rate were made by studying the mtDNA of groups
of people whose ancestors migrated at known times. New research shows that some
regions of mtDNA mutate much faster than others. This discovery makes the
mtDNA mutation rate uncertain and gives a broad margin of error for ages determined
Can mtDNA pass from father to child?
There are rare occurrences of paternal transfer of mtDNA in humans and other
animals. This happens during conception when some mtDNA from the sperm tail mixes
with the egg. So far there is only one proven case of this in human mtDNA. Therefore,
it is not considered to be a significant contribution to the overall mutation
rate of human mtDNA.
Can the lineages of paternal grandmothers or maternal grandfathers be traced using DNA?
The Y chromosome transfers only from father to son, so it cannot be used to
study the ancestry of paternal grandmothers. Similarly, mtDNA cannot be used
to study the ancestry of maternal grandfathers. The genetic markers from
these relatives reside in our autosomal DNA, composed of the 22 pairs of nonsex
chromosomes found within the nucleus of every cell. Autosomal DNA tests
look for SNPs,
or alleles, located throughout the DNA. Since autosomal DNA is a random mixture
of contributions from each parent, these tests cannot determine from which
the family the alleles came unless the family members in question also have
donated DNA. Because many generations of a family are represented
in autosomal DNA, it provides a broad picture of an individual's heritage
than a trail of specific ancestry.
Many companies sell autosomal DNA tests as a means of determining an individual's "biogeographic
ethnicity." These ethnicities are defined by geographical region or by
ancient human migration patterns and vary arbitrarily in composition depending
on the company offering the test. No scientific
definitions for genetic ethnicity are universally accepted.
Will genetic anthropology establish scientific criteria for
race or ethnicity?
DNA studies do not indicate that separate classifiable subspecies (races)
exist within modern humans. While different genes for physical traits
such as skin and hair color can be identified between individuals, no
consistent patterns of genes across the human genome exist to distinguish
one race from another. There also is no genetic basis for divisions of
human ethnicity. People who have lived in the same geographic region for
many generations may have some alleles in common, but no allele will be
found in all members of one population and in no members of any other.
Indeed, it has been proven that there is more genetic variation within
races than exists between them.
The U.S. Department of Energy's (DOE) Human Genome Project (HGP) devoted 3%
of its annual budget toward studying the ethical, legal,
and social issues (ELSI) surrounding the availability of genetic information.
In 2004, DOE sponsored a Nature Genetics supplement called Genetics
for the Human Race. This supplement originated from a May 2003 workshop
held by the National Human Genome Center at Howard University in Washington,
D.C. The workshop, Human Genome Variation and 'Race,' and the special issue
of Nature Genetics were proposed by scientists at Howard University
supported by DOE's HGP through
its Office of Science; Irving Harris Foundation; National Institutes
Health through the National Human Genome Research Institute; and Howard University.
The supplement contains articles based on presentations at this workshop.
How is the database for genetic anthropology assembled?
Most of what is known about anthropological genetics is based on DNA samples
donated by about 10,000 indigenous and traditional people from around the world.
Several efforts currently are under way to generate larger or more detailed databases.
Three of these efforts are listed below.
In 2006, the National Geographic Society, IBM, geneticist Spencer Wells, and
the Waitt Family Foundation launched the Genographic
Project, a 5-year nonprofit study that will produce the largest DNA database
ever collected for genetic anthropology. The project focuses on obtaining
samples from "key populations" composed of people who have lived
in a particular region for several generations and maintained the same culture.
An estimated 5000 of these so-called key populations live on earth. The project
will attempt to choose a subset of these who represent current human genetic
diversity. Each person sampled must first give informed
consent, and issues such as participants' privacy and the cultural and physical
impact of the project are considered. No medical research will be conducted
during the study, and no genetic data will be patented. The project's database will be open to the public.
The Genographic Project has begun sampling key populations in:
- East Asia
- Middle East
- North America
- North Eurasia
- Sub-Saharan Africa
When the project is finished, its database will contain DNA samples from more than
100,000 people from key populations. The Genographic Project also is selling
public participation kits to all who want to contribute their DNA. Researchers already have released an open source database of 78,590
contributed mtDNA variants. See PLoS
The goal of the International HapMap
Project is to develop a haplotype map of the human genome. HapMap will
describe the common patterns of human DNA sequence variation by comparing
individuals' genetic sequences to identify chromosomal regions
where genetic variants are shared. HapMap is expected to be a key
resource for researchers to find genes affecting health, disease, and
responses to drugs and environmental factors. Information produced by the
project will be released to the public and freely available. The project is a collaboration among
scientists in Japan, the United Kingdom, Canada, China, Nigeria, and the United
States. DNA samples for HapMap will come from 270 people:
people in Ibadan, Nigeria, Japanese in Tokyo, Han Chinese in Beijing, and
the genetic samples in the Paris Centre d'Etude du Polymorphisme Humain (CEPH)
collection. HapMap started
in 2002 and was scheduled to run for only 3 years, but it has been extended.
Human Genome Diversity Project
Genome Diversity Project (HGDP) was started by Stanford University's Morrison
Institute in 1993.The HGDP is not related to the Human Genome Project or
Genographic Project. It is an effort by researchers to document the genetic
variation of the human species worldwide. The project's goal is to collect renewable
biological samples from different population groups to
build a representative database of human genetic diversity. Data
also will be used to learn about human biological history and the biological
relationships among different groups. Information from the project could be useful in understanding
of and determining the treatment for particular human diseases.
Early in the study, political and ethical issues associated with the protocols
used to collect genetic samples from indigenous populations stalled research.
Since the project's aim was to collect infinitely renewable lymphoblastoid cell lines
rather than simple DNA samples, potential donors were afraid their
cells lines would be exploited in the future. From 1994 to 1997,
the HGDP was at a virtual standstill while a committee formed by the National Research
Council of the National Academy of Sciences met to discuss the project’s feasibly
and ethics. In 1997 the committee recommended HGDP proceed, with
particular attention to donors' privacy, informed consent, and
other related ethical issues. Also in 1997, several preexisting cell lines
from other studies of human evolution were contributed to the project. This
gave the HGDP a core of renewable genetic data from 1064 people from
52 indigenous populations that spanned all continents. The first studies using
this data were published in 2002.
Benefits and Controversies of Genetic Anthropology
- Since these studies highlight our common ancestry, they stand to underscore how closely people are related to one another as part of the extended human family.
These studies provide a detailed snapshot of human genetic variation
that will assist in answering the following questions:
- How did we migrate and populate the world?
- What impact has culture had on human genetic variation?
- How have cultural practices affected our patterns of genetic diversity?
- If humans share a recent common ancestry, why do we look different from each other?
- Did extinct human species, such as Neanderthals, contribute to the current
- How does the DNA evidence relate to the fossil evidence for human migration patterns?
- Studies that allow their databases to be used for medical research may lead to cures for genetic diseases.
- The databases may allow a better estimate of the mtDNA and Y chromosome mutation rates.
- Forming the database
- Which regions or peoples should be sampled?
- From whom in each sampled population should consent be sought?
- What information should be provided before consent is given, and how
should it be communicated?
- How should consent be given?
- Should participants have the right to withdraw their genetic material and consent
for its use after it has entered the database?
- Access and intellectual property
- Who will have access to the results and discoveries?
How will biopiracy—foreign exploitation of biological samples
from traditional or indigenous peoples—be prevented?
- If this research leads to patents, who will profit?
- Potential impact on sampled populations
- How will DNA evidence that contradicts traditional origin stories
affect traditional cultures?
How will knowledge of which peoples' ancestors arrived first affect
governmental decisions for land rights?
Given that bodily integrity is sacred in many cultures, how will
participants feel about their cells traveling around the world and
outliving their bodies?
- If a population is isolated, will sending foreigners to obtain
DNA samples put participants at unnecessary risk for disease?
- How will participants’ ability to get health insurance or
employment be affected if DNA samples show that their biogeographical
has an elevated risk factor for a particular genetic disease?
Privacy of results—How will participants' identity be protected?
- Control of confidentiality
How will these studies affect views on race, ethnicity, and minorities?
for More Information
DOE-Sponsored Journal Supplements
for the Human Race. 2004. Nature Genetics 36(11s).
- Royal, C.D.M. and G.M. Dunston. "Changing the Paradigm from Race to Human Genome Variation"
text or PDF
- Patrinos, A. "Race and the Human Genome" [Full
text or PDF (103K)]
- Cho, M.K. and P. Sankar. "Forensic Genetics and Ethical, Legal, and Social Implications
Beyond the Clinic"[Full
text or PDF
- Collins, F.S. "What We Do and Don't Know about Race, Ethnicity, Genetics
and Health at the Dawn of the Genome Era" [Full
text or PDF
- Keita, S.O.Y., et al. "Conceptualizing Human Variation" [Full
text or PDF (102K)]
- Tishkoff, S.A. and K.K. Kidd. "Implications of Biogeography of Human Populations for
Race and Medicine" [Full
text or PDF
- Jorde, L.B. and S.P. Wooding. "Genetic Variation, Classification, and Race" [Full
text or PDF
- Tate, S.K. and D.B. Goldstein. "Will Tomorrow's Medicines Work for Everyone?" [Full
text or PDF
- Rotimi, C.N. "Are Medical and Nonmedical Uses of Large-scale Genomic
Markers Conflating Genetics and Race?" [Full
text or PDF
- Mountain, J.L. and N.
Risch. "Assessing Genetic Contributions to Phenotypic Differences
among Racial and Ethnic Groups" [Full
text or PDF
- Parra, E.J.,
R.A. Kittles, and M.D. Shriver. "Implications of Correlations between Skin Color and
Genetic Ancestry for Biomedical Research" [Full
text or PDF
Genome Project Black Bag. 2002. Journal for Minority Medical Students
Special 32-page insert covers basic genetics, Zeta Phi Beta's genetic
education program, the genetics of sickle cell anemia, medical genetics,
and ELSI issues.
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