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Dispatch R925

Human evolution: The southern route to Asia

Todd R. Disotell

Research on human origins has tended to focus on the analysis of a large sample of south Asian mitochondrial
origins of western Eurasians; only recently have genetic (mt)DNA sequences and recent discoveries of previ-
studies examined south and east Asian populations in ously unknown mtDNA types in Ethiopia.
depth. Recent work suggests that the supposed Aryan
invasion of India 3,0004,000 years ago was much less The initial mtDNA study of Cann et al. [6] and subsequent
significant than is generally believed. studies have found far greater genetic variation within
Africa than in the rest of the Old World, consistent with
Address: Department of Anthropology, New York University,
25 Waverly Place, New York, New York 10003, USA.
the view that the African population as a whole originated
between 100,000 and 200,000 years ago, and that the dis-
Current Biology 1999, 9:R925R928 persal outside of Africa occurred much less than 100,000
0960-9822/99/$ see front matter
years ago [7,8]. Population differentiation thus probably
1999 Elsevier Science Ltd. All rights reserved. occurred for a considerable period within Africa before
populations dispersed elsewhere into the Old World [9].
According to the multiregional model of human evolu-
tion, archaic humans originated in Africa, migrated One of the weaknesses of many genetic studies of modern
throughout the Old World over a million years ago, and human origins is the difficulty of both carrying out and
then evolved into modern form multiple times in differ- interpreting phylogenetic analyses. The most widely used
ent areas of the Old World, with enough gene flow technique for inferring evolutionary relationships from
between these regions to prevent speciation [1]. In this genetic sequence data is maximum parsimony. This
scenario, east Asians, Australians, Europeans and technique calculates the number of evolutionary events
Africans would each have had relatively ancient separate nucleotide substitutions in the case of DNA sequences
ancestries. This theory is supported predominately by over all possible bifurcating trees linking the samples
paleoanthropologists who see, for instance, that the being analyzed. As many tree topologies may require the
hominid fossils from Australasia (Indonesia, New Guinea same number of events, multiple equally parsimonious
and Australia) show a continuous anatomic sequencing trees are often found. This is especially true for large data
during the Pleistocene that is un-interrupted by African sets or those in which only a few differences exist between
migrants at any time [1]. Southeast and south Asian the various samples. If some of the changes shared
populations are also often thought to be derived from between individuals have arisen independently known
the admixture of various combinations of western as homoplasies maximum parsimony approaches may
Eurasians (Caucasoids), east Asians and Australasians. give misleading results.
The combinations of phenotypic traits in some of these
populations could then be viewed either as the results of An alternative approach to inferring phylogenies from
such admixture, or as traits selected for a particular envi- intraspecific data, which often consist of large samples
ronment (for example dark skin). with small distances between individuals, is the median-
joining technique recently put forth by Bandelt et al. [10].
The widely supported recent replacement model, on the This method creates a network out of data for non-recom-
other hand, posits a relatively recent African origin for all bining parts of the genome, such as mtDNA or Y chromo-
modern humans, with a subsequent dispersal throughout some sequences, by joining individuals who differ by only
the Old World that completely replaced the existing a specified number of changes into clusters, which them-
archaic population (reviewed in [2]). A model with a selves are linked to other clusters and the network as a
single migration out of Africa, however, is receiving less whole (Figure 1). This method can tolerate a reasonable
support as additional fossil and genetic studies more amount of homoplasy. Instead of finding tens of thousands
fully characterize human diversity, both past and of equally parsimonious trees with little resolution, the
present. Several researchers [3,4] have proposed that two median-network approach will produce a single network
geographical routes were taken by early modern with alternative potential evolutionary paths between
migrants from Africa: a northern route through north individuals and clusters of individuals [10] (Figure 1). It is
Africa and the Middle East towards western Eurasia, and this method that Kivisild et al. [5] have used to effect in
a southern route through Ethiopia and the Arabian their study of the origins of Indian populations.
peninsula towards South Asia. A study recently pub-
lished in Current Biology [5] provides important new While a great deal of research effort has focused on the
support for the southern route hypothesis, from the origins of Europeans and the fate of the neanderthals,
R926 Current Biology Vol 9 No 24

Figure 1

On the left is shown a strict consensus tree of

H3 the numerous equally parsimonious trees
H6 linking 14 mtDNA types from a sample of
61 humans [16]. On the right is shown the


medianjoining network linking the 14 mtDNA


H1 H10 types with one change between each node
(after [10]). Note type H14 could be derived
from either H1 or H8 and type H10 from
H2 either H1 or H7. Additional information,
H9 H8 H7
based on geography and from other studies,
suggests that the links represented by the
H5 grey lines are less plausible [10].


Current Biology

surprisingly few studies have examined large samples region sequences and a reasonable mutation rate is on
from Asian and Australian populations. For instance, the the order of 9,000 years ago, which Kivisild et al. [5]
patterns of genetic diversity in India soon to be home interpret as indicative of a small amount of admixture,
to the worlds largest population have only recently possibly due to the expansion of agricultural populations
come under scrutiny using the latest molecular and ana- from the fertile crescent. These findings, coupled with the
lytical techniques. Kivisild et al. [5] have now reported a recently discovered presence of haplogroup U in Ethiopia
study that includes an analysis of 550 Indian mtDNA [11], support a scenario in which a northeast African popu-
samples using the median-joining approach. All of the lation dispersed out of Africa into India, presumably
Indian mtDNA types found could be derived from the through the Arabian peninsula, before 50,000 years ago
African mtDNA haplogroup L3a, which is of course con- (Figure 2). Other migrations into India also occurred, but
sistent with an African origin, and if the timing is right, rarely from western Eurasian populations.
with the recent replacement hypothesis. (A haplogroup
is a cluster of mtDNA types consisting of closely related The supposed Aryan invasion of India 3,0004,000 years
sequences that differ by only a few nucleotide substitu- before present therefore did not make a major splash in
tions.) They found that 60% of Indian mtDNA types the Indian gene pool. This is especially counter-indi-
belong to the Asian-specific haplogroup M. cated by the presence of equal, though very low, fre-
quencies of the western Eurasian mtDNA types in both
Kivisild et al.s [5] large scale study also found that the southern and northern India. Thus, the caucasoid fea-
mtDNA haplogroup U, until now thought to be a tures of south Asians may best be considered pre-cauca-
western Eurasian marker based on much smaller studies, soid that is, part of a diverse north or north east
is the second most frequent type in India, with a 20% African gene pool that yielded separate origins for
frequency. This haplogroup is actually composed of western Eurasian and southern Asian populations over
seven subtypes: the western Eurasian subtypes are 50,000 years ago.
found at a low frequency in India, and vice versa. The
coalescence, or time of origin, for the western Eurasian Recent large scale genetic studies of east Asian and Aus-
and Indian U2 subtypes was calculated as 53,000 years tralasian populations are consistent with this scenario. Chu
ago. Another haplogroup, U7, found at much higher fre- et al. [12] typed from between 15 and 30 microsatellites in
quencies in India and rarely in western Eurasia, has an 28 Chinese populations as part of the Chinese Human
estimated coalescence date of 32,000 years ago. Genome Diversity Project. They inferred that the genetic
data do not support an independent origin of modern
Where western Eurasian mtDNA types are found among humans in China, as proposed by the multiregional model,
the Indian sample, their frequencies are more than ten but rather that the ancestors of the Chinese dispersed
times lower than in western Eurasia. Within these shared from south eastern Asia. Thus, rather than being an
types, the divergence times between Indian and western ancient population that intermixed with other populations
Asian types estimated from the minimal distances at its periphery, especially to the south, the far east Asian
between their corresponding mtDNA hypervariable population may be relatively recently derived from south
Dispatch R927

Figure 2

The northern (green) and southern (red)

human dispersal routes inferred from patterns
of mtDNA variation. According to Kivisild et al.
[5], the more recent 9,000 year old dispersal
from the fertile crescent region into southern
and eastern Asia (blue) provided a very minor
contribution to Asian mtDNA gene pools (see 53,000
text for details). 9,000


Current Biology

east Asian ancestors, who themselves are derived from ulation who dispersed by the southern route within the
populations dispersing from the Indian subcontinent just last 60,000 years is becoming increasingly likely (Figure 2).
over 50,000 years ago (Figure 2).
This scenario could also explain one of the enduring
One of the more perplexing questions about modern mysteries of human morphological variation. South Asian
human evolution centers around the origins of the aborigi- populations are typically classified as caucasoid, despite
nal Australians and other people of the Sahul the numerous phenotypic features that resemble Africans
Pleistocene landmass that connected Australia, New and Australian aborigines. These may be ancestrally
Guinea, Tasmania and many of the islands in the region. retained pre-caucasoid traits derived from a north or
Archeological evidence suggests that Australia was north-east African population before the western
colonized between 40,000 and 60,000 years ago [13]. If the Eurasian/south and east Asian divergence. The dark-
multiregional model is ruled out, and the million or so year skinned Australian aborigines, who often cluster with
old archaic inhabitants of the region did not leave their some African populations when morphometric compar-
genes behind, as most molecular evidence suggests, where isons of skulls are made, may also share many ancestral
did these populations come from? Conflicting hypotheses traits with the original founding population. Various
have been proposed based on multiple genetic data sets Indian Ocean and Pacific island populations often
and types of analysis. Multiple migrations and dispersals display a constellation of negrito traits, including small
probably further confound these analyses. stature, dark skin and tightly curled hair. Usually, these
traits are explained as evolving due to a combination of
Some recent mtDNA-based studies (for example [14]) mutation, isolation, drift, and selection to tropical envi-
link Australian aborigines with populations from New ronments over hundreds of thousands of years. If the
Guinea, though perhaps with several migration events southern route scenario is correct, these traits may be
leading to distinct subgroups on each island. Other the results of selection of a quite variable population that
studies have found a link between the Australians, but not expanded along the southern periphery of the Asian con-
New Guineans, and Indian populations [15]. Hypervari- tinent relatively rapidly between 50,000 and 60,000 years
able sites in the most commonly sequenced region of the ago. Rather than being perplexed by these features, it is
mitochondrial genome make the application of tree-based clear that they need to be reevaluated in light of the
comparisons to global samples particularly difficult, even evidence supporting such a scenario.
for median-joining approaches [14]. Estimating coales-
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R928 Current Biology Vol 9 No 24

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If you found this dispatch interesting, you might also want
ancestry of Indian and western Eurasian mtDNA lineages. Curr to read the December 1999 issue of
Biol 1999, 9:1331-1334.
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