Dispatch

R925

Human evolution: The southern route to Asia

Todd R. Disotell

Research on human origins has tended to focus on the

origins of western Eurasians; only recently have genetic
studies examined south and east Asian populations in
depth. Recent work suggests that the supposed Aryan
invasion of India 3,0004,000 years ago was much less
significant than is generally believed.
Address: Department of Anthropology, New York University,
25 Waverly Place, New York, New York 10003, USA.
Current Biology 1999, 9:R925R928
0960-9822/99/$ see front matter
1999 Elsevier Science Ltd. All rights reserved.

According to the multiregional model of human evolution, archaic humans originated in Africa, migrated
throughout the Old World over a million years ago, and
then evolved into modern form multiple times in different areas of the Old World, with enough gene flow
between these regions to prevent speciation [1]. In this
scenario, east Asians, Australians, Europeans and
Africans would each have had relatively ancient separate
ancestries. This theory is supported predominately by
paleoanthropologists who see, for instance, that the
hominid fossils from Australasia (Indonesia, New Guinea
and Australia) show a continuous anatomic sequencing
during the Pleistocene that is un-interrupted by African
migrants at any time [1]. Southeast and south Asian
populations are also often thought to be derived from
the admixture of various combinations of western
Eurasians (Caucasoids), east Asians and Australasians.
The combinations of phenotypic traits in some of these
populations could then be viewed either as the results of
such admixture, or as traits selected for a particular environment (for example dark skin).
The widely supported recent replacement model, on the
other hand, posits a relatively recent African origin for all
modern humans, with a subsequent dispersal throughout
the Old World that completely replaced the existing
archaic population (reviewed in [2]). A model with a
single migration out of Africa, however, is receiving less
support as additional fossil and genetic studies more
fully characterize human diversity, both past and
present. Several researchers [3,4] have proposed that two
geographical routes were taken by early modern
migrants from Africa: a northern route through north
Africa and the Middle East towards western Eurasia, and
a southern route through Ethiopia and the Arabian
peninsula towards South Asia. A study recently published in Current Biology [5] provides important new
support for the southern route hypothesis, from the

analysis of a large sample of south Asian mitochondrial

(mt)DNA sequences and recent discoveries of previously unknown mtDNA types in Ethiopia.
The initial mtDNA study of Cann et al. [6] and subsequent
studies have found far greater genetic variation within
Africa than in the rest of the Old World, consistent with
the view that the African population as a whole originated
between 100,000 and 200,000 years ago, and that the dispersal outside of Africa occurred much less than 100,000
years ago [7,8]. Population differentiation thus probably
occurred for a considerable period within Africa before
populations dispersed elsewhere into the Old World [9].
One of the weaknesses of many genetic studies of modern
human origins is the difficulty of both carrying out and
interpreting phylogenetic analyses. The most widely used
technique for inferring evolutionary relationships from
genetic sequence data is maximum parsimony. This
technique calculates the number of evolutionary events
nucleotide substitutions in the case of DNA sequences
over all possible bifurcating trees linking the samples
being analyzed. As many tree topologies may require the
same number of events, multiple equally parsimonious
trees are often found. This is especially true for large data
sets or those in which only a few differences exist between
the various samples. If some of the changes shared
between individuals have arisen independently known
as homoplasies maximum parsimony approaches may
give misleading results.
An alternative approach to inferring phylogenies from
intraspecific data, which often consist of large samples
with small distances between individuals, is the medianjoining technique recently put forth by Bandelt et al. [10].
This method creates a network out of data for non-recombining parts of the genome, such as mtDNA or Y chromosome sequences, by joining individuals who differ by only
a specified number of changes into clusters, which themselves are linked to other clusters and the network as a
whole (Figure 1). This method can tolerate a reasonable
amount of homoplasy. Instead of finding tens of thousands
of equally parsimonious trees with little resolution, the
median-network approach will produce a single network
with alternative potential evolutionary paths between
individuals and clusters of individuals [10] (Figure 1). It is
this method that Kivisild et al. [5] have used to effect in
their study of the origins of Indian populations.
While a great deal of research effort has focused on the
origins of Europeans and the fate of the neanderthals,

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Current Biology Vol 9 No 24

Figure 1

H3

H12

H12

H14

H9

H8

H10

H7

H6

H5

H13

H11

H4

H3

H2

H1

H6

H9

H14

H1

H8

H2

H5
H4

H10

H7

On the left is shown a strict consensus tree of

the numerous equally parsimonious trees
linking 14 mtDNA types from a sample of
61 humans [16]. On the right is shown the
medianjoining network linking the 14 mtDNA
types with one change between each node
(after [10]). Note type H14 could be derived
from either H1 or H8 and type H10 from
either H1 or H7. Additional information,
based on geography and from other studies,
suggests that the links represented by the
grey lines are less plausible [10].

H11

H13
Current Biology

surprisingly few studies have examined large samples

from Asian and Australian populations. For instance, the
patterns of genetic diversity in India soon to be home
to the worlds largest population have only recently
come under scrutiny using the latest molecular and analytical techniques. Kivisild et al. [5] have now reported a
study that includes an analysis of 550 Indian mtDNA
samples using the median-joining approach. All of the
Indian mtDNA types found could be derived from the
African mtDNA haplogroup L3a, which is of course consistent with an African origin, and if the timing is right,
with the recent replacement hypothesis. (A haplogroup
is a cluster of mtDNA types consisting of closely related
sequences that differ by only a few nucleotide substitutions.) They found that 60% of Indian mtDNA types
belong to the Asian-specific haplogroup M.
Kivisild et al.s [5] large scale study also found that the
mtDNA haplogroup U, until now thought to be a
western Eurasian marker based on much smaller studies,
is the second most frequent type in India, with a 20%
frequency. This haplogroup is actually composed of
seven subtypes: the western Eurasian subtypes are
found at a low frequency in India, and vice versa. The
coalescence, or time of origin, for the western Eurasian
and Indian U2 subtypes was calculated as 53,000 years
ago. Another haplogroup, U7, found at much higher frequencies in India and rarely in western Eurasia, has an
estimated coalescence date of 32,000 years ago.
Where western Eurasian mtDNA types are found among
the Indian sample, their frequencies are more than ten
times lower than in western Eurasia. Within these shared
types, the divergence times between Indian and western
Asian types estimated from the minimal distances
between their corresponding mtDNA hypervariable

region sequences and a reasonable mutation rate is on

the order of 9,000 years ago, which Kivisild et al. [5]
interpret as indicative of a small amount of admixture,
possibly due to the expansion of agricultural populations
from the fertile crescent. These findings, coupled with the
recently discovered presence of haplogroup U in Ethiopia
[11], support a scenario in which a northeast African population dispersed out of Africa into India, presumably
through the Arabian peninsula, before 50,000 years ago
(Figure 2). Other migrations into India also occurred, but
rarely from western Eurasian populations.
The supposed Aryan invasion of India 3,0004,000 years
before present therefore did not make a major splash in
the Indian gene pool. This is especially counter-indicated by the presence of equal, though very low, frequencies of the western Eurasian mtDNA types in both
southern and northern India. Thus, the caucasoid features of south Asians may best be considered pre-caucasoid that is, part of a diverse north or north east
African gene pool that yielded separate origins for
western Eurasian and southern Asian populations over
50,000 years ago.
Recent large scale genetic studies of east Asian and Australasian populations are consistent with this scenario. Chu
et al. [12] typed from between 15 and 30 microsatellites in
28 Chinese populations as part of the Chinese Human
Genome Diversity Project. They inferred that the genetic
data do not support an independent origin of modern
humans in China, as proposed by the multiregional model,
but rather that the ancestors of the Chinese dispersed
from south eastern Asia. Thus, rather than being an
ancient population that intermixed with other populations
at its periphery, especially to the south, the far east Asian
population may be relatively recently derived from south

Dispatch

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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
text for details).

53,000
years

9,000
years
>30,000
years

53,000
years

>40,000
years

Current Biology

east Asian ancestors, who themselves are derived from

populations dispersing from the Indian subcontinent just
over 50,000 years ago (Figure 2).
One of the more perplexing questions about modern
human evolution centers around the origins of the aboriginal Australians and other people of the Sahul the
Pleistocene landmass that connected Australia, New
Guinea, Tasmania and many of the islands in the region.
Archeological evidence suggests that Australia was
colonized between 40,000 and 60,000 years ago [13]. If the
multiregional model is ruled out, and the million or so year
old archaic inhabitants of the region did not leave their
genes behind, as most molecular evidence suggests, where
did these populations come from? Conflicting hypotheses
have been proposed based on multiple genetic data sets
and types of analysis. Multiple migrations and dispersals
probably further confound these analyses.
Some recent mtDNA-based studies (for example [14])
link Australian aborigines with populations from New
Guinea, though perhaps with several migration events
leading to distinct subgroups on each island. Other
studies have found a link between the Australians, but not
New Guineans, and Indian populations [15]. Hypervariable sites in the most commonly sequenced region of the
mitochondrial genome make the application of tree-based
comparisons to global samples particularly difficult, even
for median-joining approaches [14]. Estimating coalescence dates is also problematic for these populations,
perhaps because of increased genetic drift as a result of
their relative isolation. Despite the confusion as to from
where and when Sahulian populations are derived
south Asia, south east Asia or perhaps both a scenario
in which they are ultimately derived from an African pop-

ulation who dispersed by the southern route within the

last 60,000 years is becoming increasingly likely (Figure 2).
This scenario could also explain one of the enduring
mysteries of human morphological variation. South Asian
populations are typically classified as caucasoid, despite
numerous phenotypic features that resemble Africans
and Australian aborigines. These may be ancestrally
retained pre-caucasoid traits derived from a north or
north-east African population before the western
Eurasian/south and east Asian divergence. The darkskinned Australian aborigines, who often cluster with
some African populations when morphometric comparisons of skulls are made, may also share many ancestral
traits with the original founding population. Various
Indian Ocean and Pacific island populations often
display a constellation of negrito traits, including small
stature, dark skin and tightly curled hair. Usually, these
traits are explained as evolving due to a combination of
mutation, isolation, drift, and selection to tropical environments over hundreds of thousands of years. If the
southern route scenario is correct, these traits may be
the results of selection of a quite variable population that
expanded along the southern periphery of the Asian continent relatively rapidly between 50,000 and 60,000 years
ago. Rather than being perplexed by these features, it is
clear that they need to be reevaluated in light of the
evidence supporting such a scenario.
References
1. Thorne AG, Wolpoff MH: The multiregional evolution of humans.
Sci Am 1992, 266:76-83.
2. Disotell TR: Origins of modern humans still look recent. Curr Biol
1999, 9:R647-R650.
3. Cavalli-Sforza LL, Menozzi P, Piazza A. The History and Geography
of Human Genes. Princeton, New Jersey: Princeton University
Press; 1994.

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4. Lahr MM, Foley R: Multiple dispersals and modern human origins.

Evol Anthrop 1994, 3:48-60.
5. Kivisild T, Bamshad MJ, Kaldma K, Metspalu M, Metspalu E, Reidla M,
Laos S, Parik J, Watkins WS, Dixon ME, et al.: Deep common
ancestry of Indian and western Eurasian mtDNA lineages. Curr
Biol 1999, 9:1331-1334.
6. Cann RL, Stoneking M, Wilson AC: Mitochondrial DNA and human
evolution. Nature 1987, 325:31-36.
7. Watson E, Forster P, Richards M, Bandelt H-J: Mitochondrial
footprints of human expansions in Africa. Am J Hum Genet 1997,
61:691-704.
8. Mountain JL, Hebert JM, Bhattacharyya S, Underhill PA, Ottolenghi C,
Gadgil M, Cavalli-Sforza LL: Demographic history of India and
mtDNA-sequence diversity. Am J Hum Genet 1995, 56:979-992.
9. Harris EE, Hey J: X chromosome evidence for ancient human
histories. Proc Natl Acad Sci USA 1999, 96:3320-3324.
10. Bandelt H-J, Forster P, Rhl A: Median-joining networks for
inferring intraspecific phylogenies. Mol Biol Evol 1999, 16:37-48.
11. Passarino G, Semino O, Quintana-Murci L, Excoffier L, Hammer M,
Santachiara-Benerecetti AS: Different genetic components in the
Ethiopian population, identified by mtDNA and Y-chromosome
polymorphisms. Am J Hum Genet 1998, 62:420-434.
12. Chu JY, Huang W, Kuang SQ, Wang JM, Xu JJ, Chu ZT, Yang ZQ,
Lin KQ, Li P, Wu M, et al.: Genetic relationship of populations in
China. Proc Natl Acad Sci USA 1999, 95:11763-11768.
13. Klein RG: The Human Career: Human Biological and Culture Origins
2nd ed. Chicago: University of Chicago Press, 1999.
14. van Holst Pellekaan SM, Frommer M, Sved JA, Boettcher B:
Mitochondrial control-region sequence variation in Aboriginal
Australians. Am J Hum Genet 1998, 62:435-449.
15. Redd AJ, Stoneking M: Peopling of Sahul: mtDNA variation in
Aboriginal Australian and Papua New Guinean populations. Am
J Hum Genet 1999, 65:808-828.
16. Nachman MW, Brown WM, Stoneking M, Aquadro CF: Nonneutral
mitochondrial DNA variation in humans and chimpanzees.
Genetics 1996, 142:953-963.

If you found this dispatch interesting, you might also want

to read the December 1999 issue of

Current Opinion in
Genetics & Development
which included the following reviews, edited
by Phil Green and Eugene Koonin, on
Genomes and evolution:
Comparative genomics and evolutionary biology
Alexy S Kondrashov
Orthologs, paralogs and genome comparisons
J Peter Gogarten and Lorraine Olendzenski
Coding sequence evolution
Martin Kreitman and Josep M Comeron
Selfish operons: the evolutionary impact of gene
clustering in prokaryotes and eukaryotes
Jeffrey Lawrence
Shaping the genome - restriction-modification
systems as mobile genetic elements
Ichizo Kobayashi, Ayaka Nobusato, Noriko KobayashiTakahashi and Ikuo Uchiyama
Interspersed repeats and other mementos of
transposable elements in mammalian genomes
Arian FA Smit
Insights into the evolutionary process of genome
degradation
Jan O Andersson and Siv GE Andersson
The nature of the last universal common ancestor
David Penny and Anthony Poole
Evolution of organellar genomes
Michael W Gray
Origin of multicellular eukaryotes - insights from
proteome comparisons
L Aravind and G Subramanian
Noncoding RNA genes
Sean R Eddy
Contribution of genomics to bacterial pathogenesis
Dawn Field, Derek Hood and Richard Moxon
The genome of the malaria parasite
Malcolm J Gardner
The minimal genome concept
Arcady Mushegian
Observing the living genome
Tracy L Ferea and Patrick O Brown
The full text of Current Opinion in Genetics &
Development is in the BioMedNet library at
http://BioMedNet.com/cbiology/gen