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HUMAN ORIGINS

DNA furnishes an ever clearer picture

Traces of a of the multimillennial trek from Africa


all the way to the tip of South America

ILLUSTRATION BY SEAN M CCABE; SOURCES: DANIEL SAMBRAUS (human skull), PASCAL GOETGHELUCK (Neandertal skull), BIOPHOTO ASSOCIATES (chromosomes) Photo Researchers, Inc.
BY GARY STIX development company controlled by paleoanthropological record by fashioning a
Osama bin Ladens half brother revealed genetic bread-crumb trail of the earliest migra-
last year that it wants to build a bridge tions by modern humans.
that will span the Bab el Mandeb, the outlet of Almost all our DNA 99.9 percent of the
the Red Sea to the Indian Ocean. If this ambi- three billion letters, or nucleotides, that make
tious project is ever realized, the throngs of Afri- up the human genome is the same from person
can pilgrims who traverse one of the longest to person. But interwoven in that last 0.1 percent
bridges in the world on a journey to Mecca are telltale differences. A comparison among,
would pass hundreds of feet above the probable say, East Africans and Native Americans can
route of the most memorable journey in human yield vital clues to human ancestry and to the
history. Fifty or sixty thousand years ago a small inexorable progression of colonizations from
band of Africans a few hundred or even sever- continent to continent. Until recent years, DNA
al thousand crossed the strait in tiny boats, passed down only from fathers to sons or from
never to return. mothers to their children has served as the equiv-
KEY CONCEPTS The reason they left their homeland in eastern alent of fossilized footprints for geneticists. The
Scientists trace the path of Africa is not completely understood. Perhaps the newest research lets scientists adjust their focus,
human migrations by using climate changed, or once abundant shellfi sh widening the field of view beyond a few isolated
bones, artifacts and DNA. stocks vanished. But some things are fairly cer- stretches of DNA to inspect hundreds of thou-
Ancient objects, however, tain. Those first trekkers out of Africa brought sands of nucleotides scattered throughout the
are hard to find. with them the physical and behavioral traits whole genome.
DNA from contemporary the large brains and the capacity for language Scanning broadly has produced global migra-
humans can be compared that characterize fully modern humans. From tory maps of unprecedented resolution, some of
to determine how long an their bivouac on the Asian continent in what is which have been published only during recent
indigenous population has now Yemen, they set out on a decamillennial months. The research provides an endorsement
lived in a region. journey that spanned continents and land bridg- of modern human origins in Africa and shows
The latest studies survey es and reached all the way to Tierra del Fuego, at how that continent served as a reservoir of genet-
swathes of entire genomes the bottom of South America. ic diversity that trickled out to the rest of the
and produce maps of human Scientists, of course, have gained insight into world. A genetic family tree that begins with the
movements across much of these wanderings because of the fossilized bones San people of Africa at its root ends with South
the world. They also describe or spearheads laboriously uncovered and stored American Indians and Pacific Islanders on its
how peoples genes have in collections. But ancestral hand-me-downs are youngest-growing branches.
adapted to changes in diet, often too scant to provide a complete picture of The study of human genetic variation a kind
climate and disease. this remote history. In the past 20 years popula- of historical Global Positioning System goes
The Editors tion geneticists have begun to fill in gaps in the back to World War I, when two physicians work-

56 S C I E N T I F I C A M E R I C A N July 2008
[METHODS]

GENETIC PROSPECTING
Digging through DNA to find the origins
of the first modern humans began 20 years MITOCHONDRIAL DNA Y CHROMOSOME WHOLE GENOME
ago through inspection of genetic materi-
al in the cells mitochondria and later in
the Y chromosome. Today investigations
can scan sections of the whole genome
Y
contained in the cell nucleus to
compare differences, or
polymorphisms, in large X
Mitochondrial Person 1 T C C G A G T C G G T A C A
numbers of individual Mitochondrion DNA map
Person 2 T C C G A G T C G G T A C A
nucleotides, the let-
ters of the DNA Person 3 T C T G A G T C G G T A C A
Nucleus
alphabet. Person 4 T C C G A G T C A G T A C A
Polymorphisms
Cell

ing in the Greek city of Thessalonki found that some the sex chromosome passed down only
soldiers garrisoned there had a differing inci- by males to their sons. The male-transmitted
dence of a given blood group depending on their DNA carries many more nucleotides than mito-
nationality. Beginning in the 1950s, Luigi Luca chondrial DNA does (tens of millions, as opposed
Cavalli-Sforza started formalizing the study of to just 16,000), enhancing investigators ability
genetic differences among populations by exam- MANY WAYS TO to distinguish one population from another. Ana-
ining distinct blood group proteins. Variations SLICE A GENOME lyzing mitochondrial and Y chromosome DNA
in proteins reflect differences in the genes that from human populations has turned up hundreds
Scientists continually seek
encode them. genetic markers characteristic of genetic markers (DNA sites having identifi-
Then, in 1987, Rebecca L. Cann and Allan C. patterns of nucleotides that able mutations specific to particular lineages).
Wilson of the University of California, Berkeley, differ from one population group The route humans took from Africa to the
published a groundbreaking paper based on ana- to another and that can be used Americas over the course of tens of thousands of
when comparing whole genomes.
lyzing the DNA of mitochondria, the cells ener- years can now be tracked on the map as if the
Microsatellites, short repetitive
gy-producing organelles, which are passed down nucleotide segments found on all travelers were moving, albeit extremely slowly,
through the maternal line. They reported that the chromosomes (top), have on a series of interconnected superhighways.
humans from different populations all descended served as markers for a number Alphanumeric route signs, such as I-95, can be
from a single female in Africa who lived about of years. A new type of whole- recast as alphanumeric genetic markers. In the
genome analysis looks for what
200,000 years ago a finding that immediately case of the Y chromosome, for instance, cross
are called copy number variants
made headlines trumpeting the discovery of the deletions or duplications of up to the Bab el Mandeb on highway (genetic marker)
Mitochondrial Eve. (Despite the Biblical allu- one million nucleotides (bottom). M168, which becomes M89 when heading north
sion, this Eve was not the fi rst woman: her lin- through the Arabian Peninsula. Make a right at
eage, though, is all that has survived.) MICROSATELLITES M9 and set out toward Mesopotamia and
Microsatellite beyond. Once reaching an area north of the Hin-
All about Eve G AGT AGT AGT AGT AGT C
du Kush, turn left onto M45. In Siberia, go right JEN CHRISTIANSEN; CNRI/PHOTO RESEARCHERS, INC. (chromosome images)
The fast, relatively predictable rate of neutral 5 copies
and follow M242 until it eventually traverses the
mitochondrial mutations ones that are neither land bridge to Alaska. Pick up M3 and proceed
T C C G AGT AGT AGT C T C T
beneficial nor harmful lets the organelles oper- 3 copies to South America [see map on opposite page].
ate as molecular clocks. Counting the differenc- Mitochondrial DNA and the Y chromosome
es in the number of mutations (ticks of the clock) 4 copies remain powerful analytical instruments. The
between two groups, or lineages, allows a National Geographic Society, IBM and the
researcher to construct a genetic tree that tracks COPY NUMBER VARIANTS Waitt Family Foundation have joined in a pri-
back to a common ancestor Mitochondrial vately funded $40-million collaboration through
Eve or another woman who founded a new lin- 2010, research that is primarily devoted to using
eage. Comparison of the ages of the lineages Reference genome slice these tools. With the help of 10 regional academ-
from different regions permits the building of a ic institutions, the so-called Genographic Proj-
Deletion
timeline of human migrations. ect is gathering DNA from up to 100,000 indig-
Since 1987 the data bank on human diversity Duplication enous people worldwide. What were focusing
has broadened to encompass the Y chromo- on is the details of how people made the jour-

58 S C I E N T I F I C A M E R I C A N July 2008
neys, says Spencer Wells, who heads the project. The answer to the absence of stones and
In a recent report its researchers found that the bones: more DNA, from wherever. To bolster
Khoisan people of southern Africa remained the case for genetics, researchers have looked to
genetically separate from other Africans for microbes that have hitched a ride on humans,
100,000 years. In another study, they demon- inspecting their genes to look for similar pat-
strated that some of the gene pool of Lebanese terns of migration. Freeloaders include bacteria,
men can be traced to Christian Crusaders and viruses and even lice. Besides microorganisms,
Muslims from the Arabian Peninsula. the Human Genome Project and related efforts
to look across the expanse of whole genomes
Power Tools
HITCHHIKING have yielded a set of power tools that are helping
Genetic researchers have sampled the DNA of Microorganisms that ride in or to compensate for deficiencies in genetic meth-
on people can help researchers
many people living along the migratory routes ods. You can look at so many different places
confirm discoveries about human
they have discovered. Yet the seeming certainty migrations. The genes of Helico- in the genome from many individuals and in
of the data sometimes deceives. Scientists who bacter pylori (above), the ulcer- many populations to achieve more statistical
study human origins still would prefer a fossil causing bacterium endemic power in testing different hypotheses, says Tim
they can hold in their hands over a genealogical to humans, indicate that the Weaver, a professor of anthropology at the Uni-
microbe left Africa about 55,000
tree. DNA differs from the radioactive isotopes versity of California, Davis.
years ago, just when humans
used to date fossils. The rate of mutation can did. One lineage of the microbe During this decade, researchers have made
fluctuate from one stretch of DNA to another. appears both in East Asian dramatic discoveries by simultaneously compar-
But paleoanthropologists are in a fi x. Fossil and in native South American ing a multitude of variable, or polymorphic, sites
remains are rare and too often incomplete. The populations, supporting the interspersed throughout the genomes three bil-
notion that South Americans
earliest migration from Africa to Australia lion nucleotides. The first whole-genome studies
originally came from Asia.
shows up in mitochondrial and Y genetic mate- earlier in this decade looked at differences
rial (thanks to Andaman Islanders, among oth- among populations in short repetitive stretches
ers), but the physical artifacts are largely missing of DNA known as microsatellites. More recent-
along the route. ly, the scope afforded by whole-genome scans

[ROUTE MAPS]

TRACKING Y CHROMOSOMES THROUGH TIME


Geneticists can track the path of ancient migrations by examining genetic markers in Y chromosomes from men who hail from different parts of the
world. Each marker, such as M168 or M89, identifies a lineage of men and where the lineage originated. By building an evolutionary tree based on
observing many living people with the markers, investigators can determine the approximate ages of the lineages.
JEN CHRISTIANSEN; INFORMATION SOURCE: NATIONAL GEOGRAPHIC MAPS; P. HAWTIN Photo Researchers, Inc. (bacterium)

LLY22 M242
M173

M343
M17 M174
M45
M170
M201 M122 M3
M9
M20
Approximate First
M172,
M304 M35 Appearance of Marker
M96 M130 (years ago)
M175
YAP M89 60,000
M168 M69 50,000
M60 M4 45,000
Origin
40,000
M2 M91
35,000
M130 30,000
25,000
20,000
10,000

w w w. S c i A m . c o m SCIENTIFIC AMERICAN 59
has widened further. In February two papers, neanderthalensis and Homo erectus with little
one in Science, the other in Nature, reported the OUT-OF-AFRICA THEORY or no interbreeding when they met. The new
largest surveys to date of human diversity. Both Asia Africa Europe DNA work indicates that each time a smaller
Present
examined more than 500,000 single nucleotide group split off, it carried only a subset of the
polymorphisms (SNPs) swaps of one nucle- genetic diversity originally present in the African
50,000
otide for another at a particular spot in the years ago Homo sapiens population. So as distance (and time) removed
DNA from the Human Genome Diversity Pan- from Africa lengthens, diversity diminishes, pro-
el. These cell lines were drawn from about 1,000 viding a means to follow population movements.
individuals from 51 populations worldwide and Native Americans, sojourners on the last major
are maintained by the Center for the Study of continental migrations, have much less variety in
Human Polymorphisms in Paris. their genomes than Africans do.
The two research teams analyzed the wealth Many scientists believe that the weight of evi-
of data in various ways. They compared SNPs dence, now backed by large statistical analyses
directly among distinct populations. They also 1.8 Million such as the ones in Science and Nature, gives the
looked at haplotypes, blocks of DNA contain- years ago out-of-Africa proponents a clear edge in a long-
Homo erectus
ing numerous SNPs that are inherited intact running debate over human origins. The multi-
through many generations. The group that MULTIREGIONAL THEORY regional hypothesis a competitor to the out-of-
wrote the Nature paper also explored a new Asia Africa Europe Africa one argues that populations that
technique for surveying human variation by Present descended from archaics, such as H. erectus,
comparing repetitions or deletions of DNA evolved over the past 1.8 million years in Africa,
stretches of up to 1,000,000 nucleotides long Europe and Asia, and gradually emerged as
(copy number variations) throughout a persons Homo sapiens. Occasional interbreeding
genome, consistent with the larger trend to ensured that the groups did not split off into
mine the genome for ever more markers of vari- separate species.
ation. Any one piece of the genome will have a Few scientists still hold a banner for a strict
history that doesnt necessarily reflect the ances- interpretation of multiregionalism. But modi-
try of the genome as a whole, says Noah A. fied versions still circulate, mostly as attempts to
Rosenberg of the University of Michigan at Ann pinpoint whether H. sapiens bear genetic signa-
Arbor and lead author of the Nature paper. But tures of our encounters with hominid cousins.
1.8 Million
looking at many areas at once, he explains, can years ago Vinayak Eswaran of the Indian Institute of Tech-
Homo erectus
overcome that problem: With thousands of nology, aided by Henry C. Harpending and
markers, its possible to determine the overall Alan R. Rogers of the University of Utah, came
story of human migrations. DUELING up with a set of simulations in recent years that
Looking at hundreds of thousands of SNPs THEORIES suggest that after humans migrated out of Afri-
allowed the researchers to resolve the identities ca they interbred extensively with archaic spe-
The out-of-Africa theory postu-
of individual populations and to see how lates that humans with modern cies such as H. erectus. Eswarans model sug-
genetically close relations spread far and wide. traits left Africa from 50,000 to gests that as much as 80 percent of the modern
Native South American ancestry was tracked 60,000 years ago to settle the human genome may have been subject to the
back to Siberians and some other Asians. The world. Along the way, they effects of this kind of interbreeding.
replaced archaic hominids, such
Han people, Chinas principle ethnic group, has The genetic imprint is not as visible as might
as Homo erectus, that left Africa
distinct northern and southern populations. as early as 1.8 million years ago. be expected if interbreeding occurred, but
Bedouins are related to groups from Europe and The competing multiregional Harpending offers an explanation. A set of ben-
Pakistan as well as the Middle East. theory holds that modern charac- eficial genes carried by African emigrants, per-
The findings, which jibed with previous teristics evolved not just in Africa haps ones that assisted in childbearing, brought
but in archaic hominid popula-
research from anthropology, archaeology, lin- a selective advantage that eventually blotted out
tions in Asia and Europe. Inter-
guistics and biology (including previous mito- breeding among all these groups the signature of some archaic genes. The result
chondrial and Y DNA studies), also provided a (horizontal arrows) ensured that is that the population seems more closely related
broader statistical foundation for the out-of- they remained a single species. to the [African] source population of the favored
Africa hypothesis, supporting the idea that a genes than it really is, he says.
small population of humans moved out of the
continent, then grew in size in a new home until Are We Part Neandertal?
another subgroup of founders broke off and Eswaran and Harpending are not the only ones
JEN CHRISTIANSEN

moved away a process that repeated itself until suggesting the possibility of interspecies trysts.
the entire world was settled. These wayfarers Some fossilized skeletal remains of H. sapiens
edged out archaic human populations Homo have features reminiscent of earlier hominids,

60 S C I E N T I F I C A M E R I C A N July 2008
and the genetic record of contemporary humans JUST LOOK IN studies show that the two genomes are about
has also provided fuel for discussion. 99.5 percent alike could provide the most inci-
According to the tree diagrams that document
THE PHONE BOOK sive exercise to date in comparative genomics,
genetic lineages, some gene variants show deep The genetic record of human allowing identification of sites in the human
history may be bolstered by
ancestry they are much older than they should genome where interbreeding took its course and
simply paging through a phone
be if humans evolved from a single homogeneous book for certain names. A team where natural selection favored certain traits. I
group no more than 200,000 years ago; a hint of led by Mark A. Jobling of the think if youre interested in human evolution,
possible interbreeding. In one study that drew University of Leicester reported Neandertals are the unique thing, Pbo says.
attention in 2006, Bruce T. Lahn of the Univer- last year that men in north- They are our closest relatives. You can access
western England with surnames
sity of Chicago and his colleagues reported that their genomes, even though its technically dif-
that had been used there before
a version of the Microcephalin gene, which is 1600 had high levels of Scandi- ficult. But for most other ancestral human
involved in regulating brain size, contains a hap- navian ancestry on their Y groups, that will not be possible.
lotype that may have been passed on during an chromosomes, a legacy of a New, still unpublished work reveals that the
encounter with Neandertals 40,000 years ago. Viking heritage. Jobling has Neandertal Y chromosome differs from the
suggested in another paper that
A more definitive answer may arrive within human one. No human man has a Y chromo-
criminal investigators might
the next 12 months. The Neandertal Genome be able to use this method to some like that of the Neandertal, Pbo
Project a collaboration of the Max Planck Insti- link DNA evidence to a set of observes, mirroring earlier results showing that
tute for Evolutionary Anthropology in Leipzig, surnames to narrow down human and Neandertal mitochondrial DNA
Germany, and 454 Life Sciences, a Connecticut- a pool of suspects. also are readily distinguishable. Last November
based sequencing company is scheduled by the Pbo and his team did report one similarity
end of this year to have finished a rough draft of between the two hominids. Neandertal remains
some 70 percent of the sequences of DNA from from Spain had a version of a gene known as
40,000-year-old Neandertal bones from a Croa-
tian cave. Its results are expected to be published
CONTAMINATION
about six months later. from human DNA
So far the project has unearthed no sign of complicates genet-
any genetic pattern that would suggest DNA ic analyses of
transfer between the two hominid lineages. We Neandertals. Work-
see no evidence of that, but we cant exclude it, ers in the El Sidron
says Svante Pbo, the Max Planck professor cave in Spain have
who heads the project. An earlier publication by taken to wearing
his group that surveyed one million nucleotides, clean-room suits
a minuscule fraction of the whole genome, sug- to protect newly
excavated samples.
gested that some gene exchange might have
occurred, but the result was later found to have
been a false signal because of sample contami-
nation. The researchers have not yet encoun-
tered the Microcephalin variant cited by Lahn.
Handling or even breathing on a sample
remains an impediment to working with ancient
DNA: some anthropologists wrap themselves in
the clean-room bunny suits used in micro-
JAY H. MATTERNES (Neandertal); EL SIDRON RESEARCH TEAM (excavation)

chip factories when they head to the field on


a dig. Since that initial paper, Pbos labo-
ratory has altered the procedures used in
the clean room at Max Planck. Researchers
place tags made up of four nucleotides of
synthetic DNA at the beginning of each
strand of Neandertal genetic material.
Each strand that exits the sequencing
machine goes through a molecular
identity check.
An understanding of the genetic
makeup of the closest cousin in the
human line estimates from previous

w w w. S c i A m . c o m SCIENTIFIC AMERICAN 61
[WHOLE-GENOME RESULTS]
FOXP2 that is identical to one in humans that is
LOOKING FAR AND WIDE involved with the development of speech and
language. Again, speculation emerged in a paper
High-powered genetic sequencing and Papuan
Melanesian by a separate group in April about whether the
computational techniques developed
for the Human Genome Project and in
Pima gene could have resulted from interbreeding,
Maya
its aftermath have furnished a wealth Surui although the possibility of contamination could
of data that lets researchers compare Karitiana not be discounted.
Colombian
genomes drawn from distinct popula- Yakut
tions around the globe. Oroqen How Have We Adapted?
Daur
Hezhen As researchers continue sequencing DNA from
The diversity of DNA measured as the Mongola shards of old bone to explore whether humans
variation of nucleotides within blocks of Xibo
DNA called haplotypes decreases with Tu mated with other species of the genus Homo,
distance from Addis Ababa, Ethiopia, a Naxi other investigators are applying genome-wide
pattern that corresponds to the chronol- Yizu
ogy of human migrations. Han analyses of DNA to see which genetically con-
Japanese trolled traits changed through genetic drift (ran-
High Tujia
She dom mutations) and natural selection as
Human Genetic

Miaozu migrants adapted to their new homes.


Diversity

Lahu
Dai A study published in February in Nature
Cambodian showed the consequences of the declining genet-
Uygur
Low Hazara ic diversity as humans left Africa. The project
Addis Ababa Tierra del Fuego
Burusho compared 40,000 SNPs from a group of 20
Kalash
Pathan European-Americans and 15 African-Ameri-
Sindhi cans. It found that the European-Americans had
Geographic Region Makrani
Brahui a higher proportion of harmful genetic changes,
Oceania
Americas
Balochi ones potentially related to disease, than the Afri-
Adygei
East Asia Russian can-Americans did, although the authors
Central and South Asia Orcadian refrained from speculation about any specific
Europe

SOURCE: WORLDWIDE HUMAN RELATIONSHIPS INFERRED FROM GENOME-WIDE PATTERNS OF VARIATION, BY JUN Z. LI ET AL., IN SCIENCE, VOL. 319; 2008
French
Middle East Basque health effects. The research shows what lead sci-
Africa Italian entist Carlos D. Bustamante called a popula-
Sardinian
Whole-genome analysis conducted Tuscan tion genetic echo of Europes founding. The
by researchers at Stanford Druze low genetic diversity of Europes small initial
University and elsewhere revealed Palestinian
Bedouin population permitted a set of harmful mutations
many of the populations that
form the branches of a Mozabite to disperse widely and new harmful ones to
Yoruba
genetic tree beginning in emerge when the numbers of people began to
Mandenka
Africa and expanding out to
the rest of the world.
Bantu grow. Natural selection has not yet had time to
Biaka Pygmies
Mbuti Pygmies remove deleterious changes.
Common ancestor
Genome-wide research is also starting to fur-

MARTIN SOAVE University of Michigan at Ann Arbor (map); JEN CHRISTIANSEN (graph and genetic tree);
San
nish a panoramic picture of how natural selec-
tion helped migrants adapt to new environs. A
A genomic map of the world, crafted by researchers at the University of Michigan at Ann Arbor,
shows that genetic diversity decreases outside of Africa. Each colored tile represents a common spate of studies in the past two years have looked
haplotype. Africa has more tiles than found on other continents and ones that correspond to for genetic alterations that have occurred since
haplotypes found nowhere else.
humans left Africa or took up agriculture and
that appear to have been useful for surviving in
novel circumstances. Genetic prospectors mined
the International HapMap, a catalogue of hap-
lotypes and the 3.9 million SNPs contained
therein from North Americans with ancestry in
northwestern Europe and from individuals sam-
pled in Nigeria, China and Japan.
One study, co-authored by Harpending,
showed that the rate of change of DNA, and thus
the pace of evolution, has accelerated over the
past 40,000 years. Another by Pardis C. Sabeti
of the Broad Institute in Cambridge, Mass., and
her colleagues indicated that hundreds of regions

62 S C I E N T I F I C A M E R I C A N July 2008
[FUTURE CHALLENGES]

Can You Spare Some DNA?


I n their quest for a more in-depth picture of human origins, geneticists
need more samples from indigenous populations the world over. Theres
a need for greater resolution in the data, says Marcus W. Feldman of
also facing opposition. The project has careful protocols for ensuring
informed consent in sample gathering, and it does not intend to make
collections for medical research. Yet it has still run into resistance, in
Stanford University and a co-author of a recent whole-genome compara- particular, from Native American groups.
tive analysis. If you were to give me $1 million tomorrow, Id find 100 No matter what assurances are given, some groups will be reluctant to
more populations out of the 5,000 we need. yield a cheek swab or blood sample. Investigators in this field may never
An equal hurdle may be overcoming objections to this kind of research. achieve their goal of obtaining a set of samples that fully reflects every sub-
In 1991 Luigi Luca Cavalli-Sforza and his colleagues outlined a vision for tle gradation of human genetic diversity. G.S.
the Human Genome Diversity Project, which would have created a store of
cells from 25 unrelated individuals from each of some 400 populations
worldwide. The project foundered, however, because of resistance from
indigenous groups to providing samples: one group called it a Vampire
Project. Despite extensive informed consent procedures, some groups
worried about whether the samples would be used in research for patent-
ing and developing new drugs, which they considered to be a form of
biopiracy.
The project never received more than planning support from the federal
government, but a more modest version began in this decade, based on
cell lines that various population geneticists had brought together on their
own from more than 1,000 individuals. This collection, known as the
Human Genome Diversity Panel, is stored at the Center for the Study of
Human Polymorphisms in Paris. So far it has provided a database contain-
ing information on 51 populations that has been used for various studies,
including two large, transgenomic investigations reported in Nature and
Science this past February.
Like the Human Genome Diversity Project, the more recent Genograph- COLLECTION OF DNA for the Genographic Project moves forward in
ic Project, which intends to gather DNA from 100,000 indigenous people, is Chad. Spencer Wells, who heads the project, takes a cheek swab.

of the genome are still undergoing selection, that toggles between intelligence and doltish-
including areas that govern resistance to disease ness may quell misguided speculations.
and the development of skin color, and hair fol- Genetic literacy will let a term like Asian or
licles, which regulate sweat. Such findings imply
that human populations are continuing to adapt
Chinese be replaced by more subtle classifica-
tions based on the differences in ancestral genet-
MORE TO
to regional differences in sun exposure, foods ic makeup found in recent genome-wide scans,
EXPLORE
and pathogens they encountered when they left such as the distinction between Chinas southern Before the Dawn. Nicholas Wade.
their ancestral African home. And Africans have and northern Han groups. There is no race, The Penguin Press, 2006.
also evolved as their environs changed. Quintana-Murci says. What we see [from the Deep Ancestry: Inside the Geno-
One of the most recent studies, led by Lluis standpoint of genetics] is geographical gradi- graphic Project. Spencer Wells.
Quintana-Murci of the Pasteur Institute in Paris, ents. There are no sharp differences between National Geographic, 2006.
showed that 580 genes, including ones that play Europeans and Asians. From Ireland to Japan,
a role in diabetes, obesity and hypertension, are there is no sharp boundary where something has Human Origins: What Bones
and Genomes Tell Us about
undergoing selection differently among the Hap- changed completely. Ourselves. Rob DeSalle and Ian
Map populations, perhaps explaining geograph- The journey through evolutionary history set Tattersall. Texas A&M University
ical differences in disease patterns and providing in place by comparative genomics is still starting. Press, 2008.
clues to new targets for developing drugs. In the meantime, the hunger for more data and
Consideration of the processes underlying more powerful computers and algorithms knows New Developments in the Genet-
ic Evidence for Modern Human
human diversity sometimes moves beyond the no limits. Amassing larger databases an inter- Origins. Timothy D. Weaver and
dimensions of hair follicles and the ability to national consortium announced in January its Charles C. Roseman in Evolutionary
DAVID EVANS National Geographic

digest milk. Debate over what constitutes race intention to sequence 1,000 genomes from vari- Anthropology, Vol. 17, pages 6980;
and ethnicity can quickly enter the picture. What ous regional populations will let researchers February 22, 2008.
does it mean if a gene variant related to cogni- run ever more realistic simulations of alternative
Genetic Evidence and the
tion is found more in Europeans than in Afri- models of human evolution and weigh the prob- Modern Human Origin Debate.
cans? Better public understanding of genetics abilities of each one, yielding the best picture yet J. H. Relethford in Nature Heredity,
that a single gene does not act like a light switch of who we are and where we came from. published online, 2008.

w w w. S c i A m . c o m SCIENTIFIC AMERICAN 63