Re: East Asia genetic links

From: Piotr Gasiorowski
Message: 10064
Date: 2001-10-09

Oppenheimer reads a considerable amount of his own interpretation
into Torroni's analysis, e.g. assigning an arbitrary (but convenient)
date to the spread of the 9bp deletion, asserting on no evidence at
all that his Southeast Asian mtEve "may have spoken an Austronesian
tongue", etc. In other words, all the unknown elements in the spread
scenario are filled in according to Oppenheimer's needs, without
discussing other possible explanations. However, one should also
remark that the findings of Torroni et al. have been criticised by
other geneticists:

"... Interpretation of patterns of mtDNA variability is of potential
political importance, yet the failure to observe heteroplasmy in any
of these human analyses suggests to me that they have not been
appropriately thorough or critical. The 9bp deletion in the
CoII/tRNALys intergenic region, a "recognized marker" for Oriental
lineages, is an example of this prematurity in that later analysis of
this so-called marker showed that it is not homologous between
lineages. Like any genetic analysis of humans, it is critical that
the patterns of variation be exceedingly well defined and the
assumptions underlying the analysis be explicitly stated.
Phylogenetic analysis of any organism which is based on the
variability of the mitochondrial genomes needs to be sensitive to the
properties of mtDNA, but none bear quite as heavy of burden for their
results as do these anthropological studies."

http://www.largocanyon.org/science/Mtdna/mitoch.htm

Piotr


--- In cybalist@..., tgpedersen@... wrote:
>
> I should perhaps warn Piotr against reading the following, since it
> has been taken from a book for to read which his life is too short.
>
> Stephen Oppenheimer: Eden in the East
>
> 7
>
> Orang Asli: Originals
>
> The genetic evidence for the spread of people from Southeast Asia
> round the Pacific Rim points back to two Aboriginal areas, Sabah in
> northeast Borneo and the jungles of the Malay peninsula. Part of
the
> reason these areas keep cropping up is the selectivity of the
genetic
> studies that have been done in the past. Sabah, for instance, an
> Austronesian-speaking region on the eastern tip of Borneo, has
> received attention because of its location in the supposed region
of
> Austronesian expansion further east from island Southeast Asia. The
> Malay Peninsula region by contrast has some of the oldest and most
> diverse representatives of both Austronesian and Austro-Asiatic-
> speaking populations of mainland Southeast Asia.
>
> Orang Asli - the original Asians
>
> In the Malay Peninsula a group of non-Malay tribal groups live
> traditional lifestyles in designated areas. Collectively called
Orang
> Asli,(1) they are deeply diverse linguistically, physically and
> culturally, a fact not always acknowledged or specified at the
> tabulations created by the big gene labs in the west. An excellent
> ethnological description of these dwindling peoples is given by
> Iskander Carey in his 1970s classic *Orang Asli*.(2) Carey, with
> qualification, divides the Orang Asli tribes of the peninsula into
> three very different ethnic groups. These are the Negritos in the
> north , the Senoi in the middle and the Proto-Malays in the
south ...
> With some misclassification and overlap, the languages spoken by
> these people can be accomodated in Carey's tri-partite ethnic
> grouping. The Proto-Malays in the south speak Aboriginal
Austronesian
> tongues: the Negritos in the north speak northern Aslian tongues of
> the Austro-Asiatic phylum; and the Senoi in the middle speak either
> central Aslian or southern Aslian tongues of the Austro-Asiatic
> family. The Austronesian Proto-Malay group in the south of the
> Peninsula includes the Temuan I mentioned in the last chapter as
> suffering from high rates of a mild inherited blood disorder
> ovalocytosis.
>
> Most genetic evidence linking Southeast Asia and the Pacific has
come
> from studies of the maternal mitochondrial (mt)DNA mutations in two
> Aboriginal groups representing, respectively, mainland Austro-
Asiatic
> speakers and island Southeast Asian speakers. The former are the
> middle Aboriginal group on the Malay Peninsula, the Senoi; the
latter
> live in Sabah in northeast Borneo. In these cases, three Aslian and
> two Sabahan representatives nestle at early nodes in the five main
> Southeast Asian branching networks,(3) with the coastal New Guinea
> clans that I discussed in Chapter 6 and other Southeast Asian
ethnic
> groups, such as Vietnamesem, Malays and Taiwanese, on nearby but
> later twigs.
>
> The founder location of certain Orang Asli and Sabahan tribes on
> Asian maternal DNA trees is repeated when we look at the spread
north
> and to the west of Malaysia. A more recent re-analysis of the same
> Southeast Asian mtDNA types along with many Tibetan and Siberian
> samples still has Aslian, and Sabahan Aboriginal maternal clans at
> early nodes of major Aslian branches.(4) The Aslian mtDNA type 62,
> also present in Malays and Taiwanese Aboriginals,(5) was identical
> with a Tibetan type and apparently ancestral to various Vietnamese,
> Taiwanese and Sabahan variants.(4) Of particular note among the
seven
> East Asian mtDNA families revealed by this analysis of Antonio
> Tortoni and colleagues, based at the Università La Sapienza in
Italy,
> were their clusters B and E, which had clear roots in Southeast
Asia.
> (7)
>
> Cluster B is defined as those with Asian 9-bp deletion and, as
> previously mentioned, spreads from Melanesia round the Pacific Rim
to
> the Americas. As in the local Southeast Asian analysis, Torroni's
> tree, which includes Tibetans and Siberians still has the same
> Sabahan mtDNA type(8) at the root of the branching cluster. This
> ancestral type is shared with the equivalent nodal type in
Amerindian
> (9) and coastal New Guinea (10) populations. An Aslian type(11) is
> found nearby on Torroni's B branch, somewhat closer to the
ancestral
> node than Taiwanese Aboriginal, Korean, Sabahan, Malay, Tibetan and
> southern Chinese types on the same cluster.
>
> There is other evidence that could place the Senoi at the
geographic
> epicentre of the spread of the ancestral Asian 9-bp deletion type
> round the Pacific Rim and up the great rivers into Tibet. This
comes
> from the analysis of the three substitutions in the control region
of
> mtDNA which I noted earlier. In Terry Melton's 1995 study the
oldest
> version of the 9-bp deletion or Asian grandmother is the only type
> present in the Austro-Asiatic-speaking Senoi population, while
later
> variants are admixed in varying proportions in other Asian groups:
90
> per cent of these Aboriginal grandmother types are also the
commonest
> 9-bp deletion variant throughout Southeast Asia(12). This combined
> evidence suggests the Austro-Asiatic-speaking Senoi of the Malay
> Peninsula as a possible ancestral focus for all Asian populations
> with the 9-bp deletion.
>
> Melton's study also shows the Asian grandmother type penetrating
> along with her daughter (the Southeast Asian mother) into southern
> Indian populations. Further probes show, however, that the southern
> Indian grandmother types are not identical with the Orang Asli
types.
> Instead, the South Indian population show great diversity in that
> they share six different 9-bp deletion types with those found in
> nearly every other region of Southeast Asia and South China except
> the Malay Peninsula.(13) These links are predominantly with peoples
> of island South Asia speaking Austronesian tongues. As there seems
to
> be no other evidence for the 9-bp deletion so far west in Asia, the
> shared mtDNA types must reflect migrations from these regions
> westwards to Sri Lanka and India rather than the other way round.
> Notice, however, that the migrations appear to come more directly
> from Austronesian-speaking stock than from Austro-Asiatic-speaking
> Aboriginals of Southeast Asia, and perhaps a very long time ago in
> view of the local South Indian diversity.
>
> The picture for Antonio Torroni's other Southeast Asian maternal
> mtDNA cluster F tells us more about Austro-Asiatic expansions. The
> broad picture for group F(14) mtDNA links with the rest of Asia is
> generally similar to that for group B, except that for F the
evidence
> points directly to the Aslian Austro-Asiatic speakers rather than
> Austronesian speakers as an early and separate source of migrants
> west east and north. Group F has two Orang Asli maternal marker
types
> right at its root.(15) The rest of the twigs of this branching
> cluster are mainly composed of Vietnamese and Tibetan types,
although
> there are a couple from Malays, a Korean and a Siberian. The
> genealogical primacy of the Aslian types over the Vietnamese in
this
> group supports the archaeolinguistic theory that there was a
> southerly homeland of Austro-Asiatic speakers with spread north to
> the Mon-Khmer speakers of Indo-China.(16) Another prediction of
this
> southern homeland hypothesis was that the Mon-Khmer speakers in the
> eastern foothills of Tibet are refugees rather than stay-at-
homes ...
> This is also supported by the genetic tree.
>
> The final prediction of the southern Austro-Asiatic homeland
> hypothesis is that the migration of Austro-Asiatic speakers to
India
> went through the Strait of Malacca shortly after the rising sea
> opened it over 8000 years ago. We should, on this argument, expect
to
> see genetic evidence in north India linking back to the Orang Asli
> groups in the jungles of Malaya. Such is the case: the mtDNA marker
72
> (17) characteristic of the Austro-Asiatic Aslian speakers is
present
> in northern but not southern India. A recent analysis of Indian
mtDNA
> types reveals not only multiple East Asian intrusion into the
Indian
> subcontinent, but a clear north-south division as well. Another
> conclusion from this latter study is that the antiquity of East
Asian
> mtDNA markers in India suggests a very ancient migration west.(18)
>
> Mothers and fathers move west!
>
> The F maternal mtDNA cluster as defined by Tortoni and colleagues,
> (19) also has two isolated cousins among Caucasian types (those in
> Europe, the Middle East and most populations in the Indian
> subcontinent). One of these comes from a group of Swedes and Finns.
> (20) There is another Asian echo in Scandinavia. (21) Generally
> Caucasian populations have completely different mtDNA from East
> Asians, but independent evidence of Asian intrusions into Arctic
> Europe comes from the paternal or Adam's Y chromosome. Tatiana
Zergal
> at the University of Oxford along with her colleagues have linked a
> unique Asian Y chromosome mutation present in Uralic-speaking
> populations in central Asia to the linguistically related Finns,
> Estonians and Saami (Lapps) in northern Europe and Mari in
northwest
> Russia.(22) Several examples of the mutation also crop up in
Norway,
> suggesting local spread into Norse-speaking populations. From the
> distribution of the mutation Zergal and her colleagues speculate an
> origin in th Mongolia/China region. One individual has even been
> found in Japan on the Pacific Rim. Their model suggests that an
> originally Asian migrant group of males from central Asia retained
> their Asian language and male chromosomes but replaced much of
their
> nuclear genetic characteristics with European genes in Finland,
> Estonia and northwest Russia. The Saami, who can be traced back by
> rock engravings to 4200 BC, may be genetically the closest
survivors
> to the first migrants from the East. A shamanistic culture, their
> legends record such migrations.(23) Clearly those Asian genes
linger
> on in a much wider distribution of northeast Europe.
>
> Curiously the Y chromosome evidence explains the remarkable
> difference in appearance between the Europe-based Finno-Ugric
> speakers and their linguistic cousins the Uralics from central and
> north Asia - presumably because of the dilution of Asian nuclear
> genetic characteristics in the former. There are other mtDNA links
> between the Asia-Pacific region and Europe, but these are tenuous
and
> need further study.(25) The whole issue of Asian intrusions to
Europe
> during the Neolithic and Bronze Ages, as evidenced by pottery
styles
> and "round-headed" skulls, has a long history and remains
> controversial. It is outside the scope of this book.
>
> I can now summarize the evidence from the Adam and Eve genetic
> markers for an east-west spread as follows: the Asian 9-bp deletion
> was carried to South India by the Southeast Asian mother, a woman
who
> may have spoken an Austronesian tongue. The group F maternal clans
in
> Antonio Torroni's classification, which are more clearly linked to
> Austro-Asiatic speakers of the Asian mainland, spread radially
north
> into Indo-China and Tibet, and west into north India, as suggested
by
> the model in the previous chapter. The maternal and paternal trails
> suggest possible further spreads of these people into Europe,
either
> via India or through central Asia. The hottest trails in this
respect
> are those to Finland and Sweden.
>
> This suggestive evidence from the celibate Adam and Eve genes is
> amply supported by study of the more promiscuous and prolific
nuclear
> genetic markers. Again, some of the best population-based evidence
> comes from the genes coding for the haemoglobin molecule that
carries
> the oxygen in our blood.
>
> 1)"Orang" in Malay means man, whilw "Asli" means original.
>
> 2) Iskander Carey: *Orang Asli: The Aboriginal tribes of Penisular
> Malaysia*, Oxford University Press, 1976. 3) The five mtDNA types
62,
> 71, 54 and 18 at the bases of clusters F, A, D, D* and E,
> respectively, in Figures 2 and 3 in S. W. Ballinger et al. "South
> East Asian Mitochondrial DNA Analysis Reveals Genetic Continuity of
> Ancient Mongolian migration", in Genetic, vol. 130, 1991, pp. 139-
52.
> Haplogroups E, A, D, D* and E correspond with New Guinea
matricalans
> 1-7, 17, (17), 11 and 9 respectively in Mark Stoneking et
> al., "Geographic Variation in Human Mitochondrial DNA from Papua
New
> Guinea", in Genetics, vol. 114, 1990, pp. 717-33. Close links also
> exist between Southeast Asian haplogroup G and New Guinean
matriclan
> 9; see Ballinger et al. ibid.
>
> 4) Antonio Torroni et al. "Mitochondrial Analysis in Tibet:
> Implications for the Origins of the Tibetan Population and in
> Adaptation to High Altitude", in American Journal of Physical
> Anthropology, vol 93, 1994, pp. 189-99. The broad division between
> mainland Southeast Asians including the Senoi and island Southeast
> Asians including Borneans, corresponds with groups A and B in a
> similar division based on nuclear genetic markers obtained by L.
Luca
> Cavalli-Sforza and colleagues in their authoritative The History
and
> Geography of Human Genes (abridged paperback 1996, Princeton
> Univerdity Press: pp. 134-138). Group C correspoded with negritos.
>
> 5) Ballinger, op. cit., pp. 139-52.
>
> 6) Torroni et al., pp. 189-99.
>
> 7) Haplogroups B and F, in Ibid., p. 196
>
> 8) Type 54 in Ballinger, op. cit., p. 141.
>
> 9) Type 13 in group B in Torroni et al. "Native American
> Mitochondrial DNA Analysis Indicates that the Amerind and the
Nadene
> Populations were Founded by two Independent Migrations", in
Genetics
> vol. 130, 1992, op. cit., pp. 153-62.
>
> 10) Type P119 in Mark Stoneking et al. "Geographical Variation in
> Human Mitochondrial DNA From Papua New Guinea", in Genetics, vol.
> 114, 1990, pp. 717-33.
>
> 11) Type AS79 from Ballinger, op. cit., pp. 139-52.
>
> 12) Table A1 in Terry Melton et al. "Polynesian Genetic Affinities
> with Southeast Asian Populations as Identified by mtDNA Analysis",
in
> Am. J. Hum. Gen., vol. 57, 1995, pp. 412-13.
>
> 13) Table AI in ibid., pp. 412-13.
>
> 14) As defined in Torroni et al., op. cit. p. 196.
>
> 15) Types AS72 and AS71 in Torroni, ibid., p. 195.
>
> 16) See Chapter 5 for further details.
>
> 17) Type AS72 in Torroni et al., op. cit., p. 195
>
> 18) S. Barnabas et al. "Human Evolution: The Study of Indian
> Mitochondrial DNA", in Naturwissenschaften, vol. 83, 1996, pp 28-9.
>
> 19) Torroni et al., op. cit. p 196.
>
> 20) Type 108 in Torroni et al. "MtDNA and the origin of Caucasians:
> Identification of Ancient Caucasian-specific Haplgroups, One of
Which
> is Prone to a Recurrent Somatic Duplication in the D-Loop Region",
> American Journal of Human Genetics vol. 55, 1994, pp. 760-76, and
> type 21, haplogroup T, in Torroni et al. "Classification of
European
> mtDNAs from an Analysis of Three European Populations", in
Genetics,
> vol. 144, 1996, pp. 1835-50.
>
> 21) "Asian" haplotype M, in Antonio Torroni et al., "Classification
> of European mtDNAs from Analysis of Three European Populations", in
> Genetics, vol. 144, 1996, pp. 1835-50.
>
> 22) The 'C' allele in Tatiana Zergal et al. "Genetic Relationship
of
> Asians and Northern Europeans, Revealed by Y-Chromosomal DNA
> Analysis" in Am. J. Hum. Gen., vol. 60, 1997, pp. 1174-83.
>
> 23) Inger Zachisson, "Oral Traditions, Archaeology and Linguistics:
> the Early History of the Saami in Scandinavia", in Roger Blench and
> Matthew Spriggs (eds.), Archaeology and Language I: Theoretical and
> Methodological Orientation, Routledge, London, 1997, pp. 371-6.
>
> 24) See Chapter 12 for further details.
>
> 25) In Bryan Sykes et al. "The Origin of the Polynesians: An
> Interpretation from Mitochondrial Lineage Analysis", in American
> Journal of Human Genetics, vol. 57, 1995, pp. 1463-75. See also:
> Group 3A in M. Richards et al. "Paleolithic and Neolithic Lineages
in
> the European Mitochondrial Gene Pool", in American Journal of Human
> Genetics, vol. 59, 1996, pp. 185-203.
>
> Torsten