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florence by hedongchenchen

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									   Towards understanding the
South-Asian maternal lineages tree
Outline of the presentation

• Emerging topology of the Indian M and R
  lineages

• The spread of East-Eurasian, West-Eurasian and
  Indian specific mtDNA lineages in South- and
  Southeast-Asia

• mtDNA haplotype sharing within India and
  beyond
 The samples 1

                        social
        State           status   language group   Population               n
        West Bengal     cast     Indo-European    mixed cast people       50
        Uttar Pradesh   tribal   Indo-European    Bhoksa                   5
        Kerala          cast     Indo-European    Cochin                  55
        Kerala          cast     Indo-European    Cochin Jews             45
        Gujarat         cast     Indo-European    mixed cast people       53
        Himachal        tribal   Tibeto-Burman    Kanet                   37
        Maharashtra     cast     Indo-European    Konkanastha Brahmin     58
        West Bengal     cast     Indo-European    Kurmi                   55
        West Bengal     tribal   Austro-Asiatic   Lodha                   56
        Sri Lanka       cast     Dravidic         Moor                    50
        Maharashtra     cast     Indo-European    Parsi                   55
        Punjab          cast     Indo-European    mixed cast people       112
        Rajastan        cast     Indo-European    Rajputi                 35
        sri lanka       cast     Indo-European    Sinhalese               82
        Uttar Pradesh   tribal   Indo-European    Tharu                   26
        Uttar Pradesh   cast     Indo-European    Uttar Pradesh Brahmin   25
Total                                                                     799
   The samples 2
India                                   Iran
    Bamshad et al. 1998           244           our unpublished data         437
    Cordaux et al. 2003           687
    Kivisild et al. 1999          290   Pakistan
    Kivisild et al. 2003          175           Quintana-Murci Unpublished    67
    Mountain et al. 1995           96           Torroni unpublished          100
    Prasad et al. 2001             33           Kivisild et al. 1999           9
    Quintana-Murci et al. 1999     27           Cordaux et al. 2003           36
    Roychoudhury et al. 2001      115                                        212
    Thangaraj et al. 1999           8   Thailand
    Thangaraj et al. 2003          99           Fucharoen et al. 2001        215
                                 2573           Oota et al. 2001             304
                                                Yao et al. 2002a              33
China                                                                        552
   Horai et al. 1996               66
   Kivisild et al. 2002            69   Bangladesh
   Melton et al. 1998              28          Cordaux et al. 2003            29
   Torroni et al. 1994             54
   Yao et al. 2002a               415
   Yao et al. 2002b               263
                                  895
The global topology of
mtDNA lineages.




The basic mtDNA lineages in
India
       M       66%
       U        >11%
       R*       <11%
       sum      88%
   The phylogeny of M lineages in India is largely a mess


         HVSI based median network of the M* lineages found in India.

Nearly 70% of the
Hg M lineages in
India remain to be
classified using
mtDNA coding
region
polymorphism (M*).
M2 makes up 10% of the Indian M lineages




   50,600
 ± 24,000
   5252                     55,500
                 73,000   ± 21,000
   8396        ± 22,900
                  477C
                  1780
                  8502
Another 5% of the Indian
M lineages belong to M6.



Neither of the two M6
frequency peaks, one in
Kashmir and the other in
Karnataka, are reliable i) small
sample size from Kashmir and
ii) the presence of but one
haplotype of M6a among the
cast of Mukri in Karnataka.




M6 -AluI np 3539
M6b -AluI np 5584
                        total   tribals general
                                        pop.
M3a (-NlaIII np 4577)   3%      0,6%   6,8%
M4a (+MboI np 6618;     1%      0,2%   1,9%
     -HaeIII np 7859)
M25 - 2%   -MspI np 15925                        M18 - 3%   AT np 16318




                      A founder effect has
                      boosted M18 nodal
                      haplotype frequency
                      among the Austro-Asiatic
                      speaking Lodha – 33%
Similarly to Hg M 65% of
the 11% of R lineages (excl.
WE specific HV, TJ, U; EE
specific R9, B and I specific
branches of U) in India are
still unclassified derivates
(R*).



20% of the R lineages
belong to R5 (-MboI np 8592).
 11% of the
 Indian R
 lineages is
 made up
 by Hg R6.




-AluI np 12282
The spread of WE, EE and I specific maternal lineages
The spread of East-Eurasian specific mtDNA haplogroups
(M7, M8, M9, M10, MD, MG, R9 (incl. F), B, A, Y)
The spread of West-Eurasian specific mtDNA haplogroups
(HV, N1 (incl. I), N2 (incl. W), TJ, U (excl. Indian U2i), X)
The spread of Indian specific mtDNA haplogroups
(M2, M3a, M4a, M6, M18, M25, R5, R6, U2i, Y)
The spread of WE, EE and I specific maternal lineages among
       the tribal people of South- and Southeast-Asia
70% of the 1136 mtDNA haplotypes found among continental Indians (including
Pakistan and Bangladesh) were singletons, which is quite similar to the 76% of
singleton haplotypes in the West-Eurasian database (n=~15000).

                                                   Lineage sharing within India vs. within Western Erurasia

                           60%
  % of shared haplotypes




                           50%


                           40%


                           30%


                           20%


                           10%


                           0%
                                 1     2       3         4      5      6        7       8        9     10     11      12     13      14
                                                                           number of populations
                                     India (populations)                   India (grouped by states)               Western Eurasia

Compared to Western-Eurasia the shared haplotypes in India are more often
shared within a population (or State).
    mtDNA haplotype sharing on social, linguistic and geographical axes

                                                                         0% 10% 20% 30% 40% 50% 60% 70%

44% the tribals carry mtDNA                random set / random set                           ±2%
lineages in common with the
                                          tribals / general population
cast populations. This is as
much as in case of two                    general population / tribals
random sets of Indian              northern States / southern States
populations.                      southern States / northern States

                                    eastern States / western States
In contrary to 22% in the
case of the Tibeto-Burman           western States / eastern States
speakers, as much as 66%                    Dravidic / rest of Indians
of the sampled Austro-              Indo-Europeans / rest of Indians
Asiatic speakers demonstrate
                                      Austro-Asiats / rest of Indians
mtDNA haplotypes that can
also be found among the             Tibeto-Burmans / rest of Indians
rest of Indians.                                   Indians / Chinese

                                                   Chinese / Indians

                                                      Thai / Chinese

                               Proportion of the population (group) that possess the mtDNA
                               haplotypes in common with the other population (group).
                                                                                                                                                                                                                       are largely i) EE and WE specific mtDNA lineages, and ii) in many cases common




                                                                                                                                                                                      B4a92-189-217-261-299
The 35 mtDNA haplotypes shared between China and India




                                                                                                                                                                                      F1c111-129-304
                                                                                                                                                                                                                       in one group and present in the other merely as one or couple of instances




                                                                                                                                                                                      H176
                                                                                                                                                                                      M126-223-362
                                                                                                                                                                                      M9a223-234-362
                                                                                                                                                                                      MD223-256-311-362
                                                                                                                                                                                      MD4114-223-294-318-362
                                                                                                                                                                                      M92-223-362
                                                                                                                                                                                      M9a145-223-234-316
                                                                                                                                                                                      M9a158-223-234-362
                                                                                                                                                                                      J69-126-319
                                                                                                                                                                                      MG223-311-362
                                                                                                                                                                                      F1b189-232A-249-304-311
                                                                                                                                                                                      F1a129-162-172-304
                                                     (excl. the tribals of the easternmost States of India)




                                                                                                                                                                                      A4223-290-319-362
                                                                                                                                                                                      F1a129-172-304
                                                                                                                                                                                      H304
                                                                                                                                                                                      MD4223-274-362
                                                                                                                                                                                      M8C129-223-298-327
                                                                                                                                                                                      M8Z185-223-260-298
                                                                                                                                                                                      B5a140-189-266A
                                                                                                                                                                                      MD172-223-362
                                                                                                                                                                                      U5256-270
                                                                                                                                                                                      M129-223-311
                                                                                                                                                                                      U4356
                                                                                                                                                                                      F1b189-304
                                                                                                                                                                                      M223-362
                                                                                                                                                                                      M193-223
                                                                                                                                                                                      pHV2217
                                                                                                                                                                                      W223-292
                                                                                                                                                                                      M223-311
                                                                                                                                                                                      RCRS
                                                                                                                                                                                      M223-234
                                                                                                                                                                                      HCRS
                                                                                                                                                                                      M223




                                                                                                                                                                                                       China
                                                                                                              4,00%
                                                                                                                      3,50%
                                                                                                                              3,00%
                                                                                                                                      2,50%
                                                                                                                                              2,00%
                                                                                                                                                      1,50%
                                                                                                                                                              1,00%
                                                                                                                                                                      0,50%
                                                                                                                                                                              0,00%




                                                                                                                                                                                                               India
Conclusions:

• 30% of the Indian M and R (excl.U) lineages have been assigned to
  Indian specific subhaplogroups that show coalescence times in early
  and late Upper Palaeolithic.

• As expected, Western- and Eastern-Eurasian mtDNA lineages are
  more dominant respectively in north-western and north-eastern
  India. Over half of the maternal lineages among the Tibeto-Burman
  speaking tribals of the eastern- and northernmost States of India
  belong to EE specific mtDNA lineage clusters.

• MtDNA haplotype sharing analysis did not support segregation of
  Indian populations based on linguistics and social status (tribal vs.
  cast pop.) (except for the Tibeto-Burman speakers).
Acknowledgements
Tartu, Estonia            Pavia, Italy
Jaan Lind                 Chiara Rengo
Ille Hilpus               Antonio Torroni
Jüri Parik
Eva-Liis Loogväli         Haifa,Israel
Katrin Kaldma             Doron Behar
Ene Metspalu
Helle-Viivi Tolk          Paris, France
Toomas Kivisild           Luis Quintana-Murci
Richard Villems

Loughborough, UK
Sarabijt Mastana

Newcastle-upon-Tyne, UK
Surinder S. Papiha

								
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