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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
State
West Bengal
Uttar Pradesh
Kerala
Kerala
Gujarat
Himachal
Maharashtra
West Bengal
West Bengal
Sri Lanka
Maharashtra
Punjab
Rajastan
sri lanka
Uttar Pradesh
Uttar Pradesh
Total
social
status
cast
tribal
cast
cast
cast
tribal
cast
cast
tribal
cast
cast
cast
cast
cast
tribal
cast
language group
Indo-European
Indo-European
Indo-European
Indo-European
Indo-European
Tibeto-Burman
Indo-European
Indo-European
Austro-Asiatic
Dravidic
Indo-European
Indo-European
Indo-European
Indo-European
Indo-European
Indo-European
Population
mixed cast people
Bhoksa
Cochin
Cochin Jews
mixed cast people
Kanet
Konkanastha Brahmin
Kurmi
Lodha
Moor
Parsi
mixed cast people
Rajputi
Sinhalese
Tharu
Uttar Pradesh Brahmin
n
50
5
55
45
53
37
58
55
56
50
55
112
35
82
26
25
799
The samples 2
India
Bamshad et al. 1998
Cordaux et al. 2003
Kivisild et al. 1999
Kivisild et al. 2003
Mountain et al. 1995
Prasad et al. 2001
Quintana-Murci et al. 1999
Roychoudhury et al. 2001
Thangaraj et al. 1999
Thangaraj et al. 2003
China
Horai et al. 1996
Kivisild et al. 2002
Melton et al. 1998
Torroni et al. 1994
Yao et al. 2002a
Yao et al. 2002b
Iran
244
687
290
175
96
33
27
115
8
99
2573
66
69
28
54
415
263
895
our unpublished data
Pakistan
Quintana-Murci Unpublished
Torroni unpublished
Kivisild et al. 1999
Cordaux et al. 2003
Thailand
Fucharoen et al. 2001
Oota et al. 2001
Yao et al. 2002a
Bangladesh
Cordaux et al. 2003
437
67
100
9
36
212
215
304
33
552
29
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
8396
73,000
± 22,900
477C
1780
8502
55,500
± 21,000
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
A founder effect has
boosted M18 nodal
haplotype frequency
among the Austro-Asiatic
speaking Lodha – 33%
M18 - 3%
AT np 16318
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
% of shared haplotypes
60%
50%
40%
30%
20%
10%
0%
1
2
3
4
India (populations)
5
6
7
8
9
number of populations
India (grouped by states)
10
11
12
13
Western Eurasia
Compared to Western-Eurasia the shared haplotypes in India are more often
shared within a population (or State).
14
mtDNA haplotype sharing on social, linguistic and geographical axes
0% 10% 20% 30% 40% 50% 60% 70%
44% the tribals carry mtDNA
lineages in common with the
cast populations. This is as
much as in case of two
random sets of Indian
populations.
In contrary to 22% in the
case of the Tibeto-Burman
speakers, as much as 66%
of the sampled AustroAsiatic speakers demonstrate
mtDNA haplotypes that can
also be found among the
rest of Indians.
random set / random set
±2%
tribals / general population
general population / tribals
northern States / southern States
southern States / northern States
eastern States / western States
western States / eastern States
Dravidic / rest of Indians
Indo-Europeans / rest of Indians
Austro-Asiats / rest of Indians
Tibeto-Burmans / 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).
The 35 mtDNA haplotypes shared between China and India
(excl. the tribals of the easternmost States of India)
4,00%
3,50%
3,00%
2,50%
2,00%
1,50%
1,00%
0,50%
0,00%
India
B4a92-189-217-261-299
F1c111-129-304
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
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
are largely i) EE and WE specific mtDNA lineages, and ii) in many cases common
in one group and present in the other merely as one or couple of instances
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
Jaan Lind
Ille Hilpus
Jüri Parik
Eva-Liis Loogväli
Katrin Kaldma
Ene Metspalu
Helle-Viivi Tolk
Toomas Kivisild
Richard Villems
Loughborough, UK
Sarabijt Mastana
Newcastle-upon-Tyne, UK
Surinder S. Papiha
Pavia, Italy
Chiara Rengo
Antonio Torroni
Haifa,Israel
Doron Behar
Paris, France
Luis Quintana-Murci