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

The samples 2

The basic mtDNA lineages in India M66% U>11% R*<11% sum88% The global topology of mtDNA lineages.

The phylogeny of M lineages in India is largely a mess Nearly 70% of the Hg M lineages in India remain to be classified using mtDNA coding region polymorphism (M*). HVSI based median network of the M* lineages found in India.

M2 makes up 10% of the Indian M lineages 73,000 ± 22,900 55,500 ± 21,000 50,600 ± 24, C

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

totaltribalsgeneral pop. M3a (-NlaIII np 4577) 3%0,6%6,8% M4a (+MboI np 6618; -HaeIII np 7859) 1%0,2%1,9%

M25 - 2% -MspI np M18 - 3% AT np 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). Compared to Western-Eurasia the shared haplotypes in India are more often shared within a population (or State).

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 Austro- Asiatic speakers demonstrate mtDNA haplotypes that can also be found among the rest of Indians. ±2% mtDNA haplotype sharing on social, linguistic and geographical axes 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) 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