Journal of the Anthropological Survey of India, 62(2): (775-804), 2013

Molecular Biological Perspectives of Tribes in India

Krithika S.1, Suvendu Maji1 and T.S. Vasulu1*

1. Biological Anthropological Unit, Indian Statistical Institute, 203 B.T. Road, Kolkata-70018

Abstract: Recent developments in molecular anthropological studies of Indian populations

have widened our scope of understanding wide patterns of diversity at the molecular level.

This could also aid in obtaining a more clarity of the peopling of India and the past genetic

antiquity of Indian tribes. The paper explores some of the biological dimension of the pattern

of variation among the regional tribes, their affinity and diversity as revealed from some of

the classical genetic markers and what can be obtained from the molecular genetic markers of

autosomal and mitochondrial and y-chromosome markers.

Key words: Genetics; Linguistics; Diversity; mtDNA; Y-chromosome

INTRODUCTION

Recent molecular genetic studies on the origin and dispersal of anatomically modern humans

from Africa (about 160kya to 150kya), have indicated that Indian subcontinent (south Asia)

had played a significant role in the early history of human evolution and served as a ‘major

corridor’ for human dispersal (Cann 2001, Endicott et al. 2007). This finding has an important

bearing to the peopling of India, vast diversity of the extant populations and affiliation of the

Indian populations with other global groups. This also gives possible genetic credence to the

presence elusive and ‘invisible’ earlier ancestors (prehistoric man) and their inerasable cultural

signature that has been discovered over the abundant Palaeolithic sites across the subcontinent.

In this regard, there have been attempts by anthropologists, linguistics, archaeologists

and human geneticists to comprehend the vast diversity of the numerous castes and tribes;

their past history; pattern of genetic variation among the populations; congruence between

linguistic, geographic and ethnic affiliations of the groups. It is certainly tremendous task to be

able to review the works concerning the of the peopling of India, nevertheless a brief

description concerning the issues related to the peopling of India and the findings of the

previous classical and molecular genetic studies of the Indian populations have been described

in the following sections of the paper.

___________________________________________

*Address for correspondence: Dr. T.S. Vasulu, Professor, Biological Anthropology Unit, Indian Statistical Institute, 203 B.T. Road, Kolkata-108. vasulut@hotmail.com

776 Molecular Biological Perspectives of Tribes in India

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A. PEOPLE OF INDIA

Contemporary India manifests enormous cultural, linguistic, biological and genetic diversity

which can be primarily attributed to (a) its inimitable position at the trijunction of the African,

the northern Eurasian and the Oriental realm, the crossroads of many historic and pre-historic

human migrations (Beteille 1998, Gadgil et al. 1997, Majumder 1998) and (b) the presence of

large number of (4,635) communities with unique population structure, that have been

maintained over several generations (Singh 1994). The subcontinent is the abode of around

40000 endogamous groups comprising of about 37000 castes (nontribal) and subcastes and

3000 tribal, religious (following different religions like Islam, Christianity, Sikhism,

Buddhism, Jainism and Judaism) and other historical migrant populations (Gadgil and

Malhotra 1983, Malhotra 1984). Among these groups, the non-tribal populations who practice

Hinduism are hierarchically arranged in five caste classes or Varnas, viz., Brahmin (priestly

class), Kshatriya (warrior class), Vaishya (business class), Sudra (menial labor class) and

Pancham (Dalits) (Malhotra 1978).

I) Ethnic and Linguistic diversity:

The ethnic diversity of the Indian subcontinent is represented by four major ethnic groups,

distinguishable by their physical features: Caucasoid (European), Proto-Australoid (Aboriginal

Australian), Mongoloid (East Asian) and Negrito (African) wherein Caucasoid groups are

distributed in most of the regions; Proto-Australoids in West, Central and Southern regions;

Mongoloids in the sub-Himalayan and North-east regions and the Negritos in the Andaman

Islands (Malhotra 1978).

The linguistic diversity of the subcontinent corresponds to the four major language

families, namely, Indo-European, Dravidian, Austro-Asiatic and Tibeto-Burman, spoken by

the Indian populations. Indo-European speakers, comprising mostly of the nontribal groups,

are widespread in North, Central and Western parts while the Dravidian speakers that include

both the tribal and the nontribal groups are confined mainly to the Southern and Central

regions. Austro-Asiatic languages are spoken by the tribes of Central and Eastern India

(except for Khasi tribe of north-east and Nicobarese of Nicobar Islands) and Tibeto-Burman

languages are largely spoken by tribes of North-east India.

These linguistic groups are believed to have migrated to the subcontinent in incessant,

multiple waves at different times (Ratnagar 1995, Thapar 1995), the earliest being the Austric

speakers soon after 65,000ybp followed by the Dravidian speakers from the middle-east (with

Krithika S, Suvendu Maji, T. S. Vasulu 777

Journal of The Anthropological Survey of India, 62(2): (775-804), 2013

Figure 1.1: Map of India showing the distribution of the various linguistic groups

knowledge of wheat cultivation and domestication of animals like cattle, sheep, goats) around

6,000ybp and then the Sino-Tibetan speakers (with knowledge of rice cultivation) after

6,000ybp. The last major migration, comprising of the Indo-European speakers (equipped with

horses and iron technology), is believed to have occurred in several waves around 3,500ybp

(Gadgil et al. 1997). Figure 1.1 shows the distribution of the various linguistic families and its

branches, in the Indian subcontinent.

(Source: http://sun-bin.blogspot.com/2005/11/map-indias-ethno-linguistic-map.html)

B. PEOPLING OF INDIA

Various competing hypotheses have been put forward to explain the evolutionary history of

the Indian tribes as well as castes in order to comprehend the extensive ethnic and linguistic

diversity of the populations and to obtain an insight into their history, viz., the origin,

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Journal of the Anthropological Survey of India, 62(2): (775-804), 2013

migration and settlement. The following sections deal with these hypotheses, pertaining to the

tribal and caste groups, put forth by different archeologists, historians, linguists and

anthropologists in the past.

I) Tribal populations:

Among the different population sects, the tribal populations, generally believed to be the

earlier inhabitants, constitute about 8.20% of the total Indian population (Census of India

2001). The subcontinent harbors large number of tribal communities (about 532) of diverse

ethnic origins (Australian, East Asian and African) belonging to primarily three major

linguistic families (Austro-Asiatic, Dravidian and Tibeto-Burman) and inhabiting different

geographical regions of the country (Singh 1994). Comprehending this vast diversity (cultural

and biological) of the tribes and tracing their evolutionary history is vital to understand the

past genetic history of people of India.

In this regard, there have been several attempts in the past, by researchers of different

disciplines, to understand the diversity among the tribal populations and to investigate their

antiquity. This in turn has led to considerable debate and subsequent emergence of various

competing hypotheses, over the years, to explain the antiquity and settlement history of the

Indian tribes. The proto-Australoid tribes belonging to the Austric linguistic group are

believed to be the basic element in the Indian population (Thapar 1966). And many other

anthropologists, historians and linguists (Fuchs 1983, Kennedy 1984, Pattanayak 1998,

Rapson 1955, Rishley 1915) have also supported the view that the Austro-Asiatic (a subfamily

of the Austric language family) speaking tribals are the earlier inhabitants of the subcontinent.

However, some other scholars (Buxton 1925, Sarkar 1958) have proposed that the Dravidians

are the earlier inhabitants, and that the Austro-Asiatics are later immigrants. Many linguists

(Renfrew 1992, Ruhlen 1991) argue that Elamo-Dravidian languages may have originated in

the Elam province of Southwestern Iran, and that the dispersal of the Dravidian languages into

India took place with the migration of humans from this region who brought with them the

technologies of agriculture and animal domestication. The Tibeto-Burman speaking tribes,

primarily inhabiting the North-eastern regions, are thought to be the latest settlers in India who

arrived from Tibet and Myanmar (Guha 1935). These various hypotheses regarding the

evolutionary history of the Indian tribal populations are summarized in Figure 1.2.

Krithika S, Suvendu Maji, T. S. Vasulu 779

Journal of The Anthropological Survey of India, 62(2): (775-804), 2013

II) Caste populations:

With respect to the caste populations, linguists of the 19th and 20th centuries proposed that the

extant castes are descendants of primarily West Eurasians who migrated from North-west

about 3000–8000 years ago (Poliakov 1974, Renfrew 1989). These nomadic migrants may

have purportedly admixed with or displaced the indigenous Dravidic-speaking proto-Asian

populations and subsequently established the Hindu caste hierarchy (Poliakov 1974, Cavalli-

Sforza et al. 1994) and placed themselves in predominantly castes of higher rank. However,

this was hardly supported by the archaeological evidence (Shaffer 1982).

Peopling of India- Issues:

Figure 1.2: Diagrammatic representation of the various hypotheses regarding the evolutionary history of the Indian tribals

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In spite of these different attempts made, in the past, by various historians, linguists

and anthropologists to understand the population structure of the Indian populations and the

peopling of India, several major issues, viz., a) the inhabitation of the subcontinent by different

tribal communities, whether the earliest settlers were Austro-Asiatic speaking or Dravidian

speaking, b) contribution of the Tibeto-Burman speakers towards the peopling of the North-

east India, c) antiquity of the different tribal communities, d) origin of the Indo-European

speakers, establishment of the caste system, e) genetic relationship (affinity and diversity)

between the different regional groups and f) the role of ethnicity, language and geography in

determining the genetic relatedness between the different populations of India and of India

with those of the other regions of the globe, remained enigmatic. So, later, anthropologists and

population geneticists tried to address some of the afore-mentioned issues by employing

certain anthropological variables as well as classical genetic markers like blood groups, serum

proteins, red cell enzymes and so on.

C. GENETIC PERSPECTIVE OF INDIAN POPULATIONS

I) Genetic affinity and diversity- classical genetic markers:

The studies based on the biological traits (anthropological and classical genetic) depicted

differentiation of Indian populations, based on different geographical regions, ethnicity and

linguistic families. A great amount of genetic diversity among the population groups of India

were reported initially based on the variation in allele frequencies among four genetic loci

(ABO, MN, HP and PGM1), in different regions of Asia (Mourant et al. 1976, Bhasin and

Walter 2001). South Asia (comprising primarily of the Indian subcontinent) displayed the

highest allele frequency variation than West, East or North Asian regions and the level of

diversity among Indian populations (based on the gene frequency data of 29 loci) was found to

be comparable to that existing within the major races (Caucasoid, Mongoloid and Negroid) of

man (based on the data of 44 protein (including enzyme) loci) (Nei and Roychoudhury 1972).

Also, the analysis of 29 loci among worldwide populations (Roychoudhury 1977) revealed

that Indian populations (represented by north Indians, Bengalis from eastern India and a tribal

population – Kadar- from southern India) were closest to the Mongoloids and farthest from the

Negroids; the Caucasoids being at the intermediate level (Figure 1.3).

Krithika S, Suvendu Maji, T. S. Vasulu 781

Journal of The Anthropological Survey of India, 62(2): (775-804), 2013

Figure 1.3: Dendrogram depicting the genetic relationship, based on 29 loci, between the Indian populations

and global morphological groups

High diversity (in terms of high average heterozygosity values), based on different sets

of markers, were also reported in micro-level studies dealing with Indian populations within

smaller geographical regions.

Roychoudhury 1977

NEGROIDS CAUCASOIDS INDIANS MONGOLOIDS

Majumder and Mukherjee 1993

BENGALI

GUJARATI

NORTH INDIAN

MARATHI

HINDU (MADHYA PRADESH)

SOUTH INDIAN

0.128 0.10 0.05 0.00

DISTANCE LEVEL

Figure 1.4: Dendrogram depicting the genetic relationship, based on 10 loci, between populations of different geographical regions of India

782 Molecular Biological Perspectives of Tribes in India

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The pattern of clustering among the population groups of India and the role of various

associated factors, were subsequently explored by employing different sets of markers. The

clustering pattern among 82 populations of India, based on 7 anthropometric characters,

revealed that both the geographical proximity and the socio-cultural background of the

populations are insufficient to determine the anthropometric variation at the all-India level.

The dendrogram (Figure 1.4) constructed using the gene frequency data of ten polymorphic

loci depicted a distinct separation of the populations of southern India from the rest and a

genetically fairly close relationship between populations of north, west, central and east India

(Majumder and Mukherjee 1993).

Figure 1.5: Dendrogram depicting the genetic relationship, based on 5 loci, between population groups of Eastern India

BRAHMIN (MANIPUR)

MEITEI

AHOM

KACHARI

SONOWAL POLIYA

TIYOR DESHI

KARBI

BRAHMIN (BIHAR)

MUSLIM (BIHAR)

CHUTIYA KALITA

RAJBANSHI

KAIBARTA

BRAHMIN (ASSAM)

MUSLIM (ASSAM)

BHUIYA

SANTAL

CHAMAR

VADABALIJA (PENTICOTTA) VADABALIJA (VADAPETA)

JALARI

KEVTO

Majumder 1998

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Journal of The Anthropological Survey of India, 62(2): (775-804), 2013

This pattern of clustering was interpreted as the linguistic separation of the Dravidian

speakers of southern India from the remaining populations that speak Indo-European

languages. In agreement with the above observation, the distinctness of the southern tribal

populations (in comparison to central and northeastern tribal populations) was also reported by

Malhotra and Vasulu (1993).

To understand the genetic relationship between populations of a particular geographic

region, region-specific studies were also conducted. In his study based on five loci (ABO, HP,

ACP, ESD and AK), Majumder (1998) observed geography based clustering of the

Figure 1.6: Dendrogram depicting the genetic relationship, based on 5 loci, between population groups of Southern India

Majumder 1998

MUSLIM SIDDI

CHRISTIAN SIDDI

VOKKALIGA

LINGAYAT

VYSYA

PULAYAN

CHETTIER

VAIDIK BRAHMIN

KAMMA

PARIAH

EZHAVA

URALI

NAMBOODIRI BRAHMIN

JENUKURUMBA

KALLAN

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populations from East India (Bihar, Orissa, West Bengal, Assam and Manipur). Also

phylogenetic studies among populations of southern India found no correspondence between

genetic and socio-cultural affinities and indications of association between genetic affinity and

the geographical distance of the populations (i.e.) genetic similarity decreasing with increasing

geographical distance (Majumder 1998).

The dendrograms depicting the genetic relationship among the East Indian and South

Indian populations are shown in Figures 1.5 and 1.6 respectively. Overall, the genetic studies

involving the populations of eastern and southern regions of India revealed that geographic

proximity had a stronger affect than socio-cultural similarities in determining the genetic

affinity. Similar inferences were drawn from studies in northern, western and central India

(Majumder and Mukherjee 1993, Das et al. 1996) and also within smaller geographical

regions (Majumder and Mukherjee 1993, Papiha et al. 1996). In contrast to the afore-

mentioned observations, Majumder and Mukherjee (1993) observed a negative correlation

between geographical distance and the genetic affinity between the populations and inferred

that the geographical proximity does not always associate well with genetic affinity.

In general, the above studies reported significant differences between tribal and caste

populations as they were found to form genetically distinct clusters (Malhotra and Vasulu

1993) and the castes of lower ranks were found to behave differently from that of the higher

ranks. Also the genetic variation within ethno-social categories (e.g. among castes) was not

found to correlate well with the social rank.

Although the above studies based on anthropological traits and classical genetic

markers yielded valuable insight into the biological structure of human populations in India,

there still remained many unanswered questions pertaining to genetic relationships of the

diverse human populations in India and also human evolution in Indian subcontinent. In order

to address these issues and also to further substantiate the contradictory inferences obtained

for the above studies; these classical genetic and anthropological studies on Indian populations

were later followed by molecular genetic studies.

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Journal of The Anthropological Survey of India, 62(2): (775-804), 2013

II) Genetic affinity and diversity- molecular genetic markers:

Initially, the molecular genetic studies employed autosomal microsatellite, mitochondrial

DNA (mtDNA) and Y-chromosome polymorphisms to understand the genetic structure and

the demographic history of Indian populations. In general, the findings of these studies were

found to be in agreement with the observations from the previous studies based on classical

genetic markers. In this regard, the initial studies performed to understand the genetic affinity

and diversity among the Indian populations were based especially on mtDNA and Y-

chromosome; the autosomal microsatellite studies being limited to few populations (e.g.,

Bindu et al., 2007).

One of the earlier studies on Indian populations using molecular genetic markers was

performed by Barnabas et al. (1996) where individuals belonging to both Indo-European and

Dravidian linguistic families were analyzed for six restriction-site polymorphisms of the

mtDNA. The study revealed a high level (0.18%) of nucleotide diversity among the studied

populations, in concordance with the previous studies. Similar results based on the sequence

data of the hypervariable regions I and II of the mtDNA, were also reported among the caste

and tribal populations of southern India (Mountain et al. 1995, Bamshad et al. 1996). In fact,

Bamshad et al. (1996), in their study on the mtDNA diversity of the caste populations of

Andhra Pradesh, estimated the mitochondrial genome diversity (mean nucleotide diversity)

among Indian populations (0.014) to be as high as that of Africans (0.019) and higher than that

of Europeans (0.007) and Asians (0.009). Also, the populations from southern India were

found to be fairly distinct from that of northern India, the former being more diverse than the

latter.

These above mtDNA studies were followed by a Y chromosome study on 10 ethnic

groups - 8 castes (Brahmins from north and east, Chamar, Bagdi, Mahishya, Agharia, Rajput

and Tanti) and 2 tribes (Lodha and Santal) – of eastern (West Bengal and Orissa) and northern

(Uttar Pradesh) regions of India (Bhattacharyya et al. 1999). AMOVA results of the study

revealed that there was significant haplotypic variation between castes and tribes, but

nonsignificant variation among ranked caste clusters. Haplotypic variation attributable to

differences in geographical regions of habitat was also found to be nonsignificant. In contrast

to this negligible gene flow reported among ethnic groups, a Y-SNP study by Ramana et al.

(2001), on three castes (Vizag Brahmins, Peruru Brahmins, Kammas), three tribes (Bagata,

Poroja, Valmiki) and an additional group (the Siddis) of Andhra Pradesh of South India,

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Journal of the Anthropological Survey of India, 62(2): (775-804), 2013

showed evidence of haplotype sharing across caste-tribe boundaries thereby suggesting the

possibility of a recent gene flow between the studied castes and tribes.

36

37, 38

1. Balti, 2. Argon, 3. Drokpa, 4. Buddhist, 5. HP Rajput, 6. Tharu, 7. Jaunsari, 8. Bhoksha, 9. Lobanas, 10. Punjab Brahmins, 11. Punjab Scheduled castes, 12. Jat Sikhs, 13. UP Brahmins, 14. Kanyakubj Brahmin, 15. Jaunpur Brahmin, 16. Chamar, 17. UP Rajput, 18. Chaturvedi, 19. Khatri, 20. Kurmi, 21. Thakur, 22. UP Jat, 23. UP Kshatriya, 24. UP Vaishya, 25. UP Sudra, 26. UP Panchama, 27. Tharu, 28. Bhoksha, 29. UP Muslims, 30. Adi / Adi Pasi, 31. Nishi, 32. Apatani, 33. Naga, 34. Manipuri Muslims, 35-.Meitei, 36. Garo, 37. Naga, 38. Hmar, 39. Mara, 40. Hmar, 41. Lai, 42. Lusei, 43. Kuki, 44. Chakma, 45. Jamatia, 46. Mog, 47. Mizo, 48. Tripuri, 49. Riang, 50. Maram, 51. Bhoi, 52. Pnar, 53. Khynriam, 54. WarKhasi, 55. Nepali, 56. Bhutia, 57. Lepcha, 58. Santal, 59. Lodha, 60. Karmali, 61. Maheli, 62. Kora, 63. Rajbhansi, 64. Bagdi, 65. WB Brahmins, 66. WB Kshatriya, 67. Gaud, 68. Bauri, 69. Mahishya, 70. Namasudra, 71. WB Kayasth, 72. Tanti, 73. Agharia, 74. Toto, 75. Bihar Brahmin, 76. Bihar Kayasth, 77. Kurmi, 78. Bihar Rajput, 79. Bihar Yadav, 80. Bhumihar, 81. Baniya, 82. Gope, 83. Karan, 84.Khandayat, 85. Oriya Brahmin, 86. Juang, 87. Saora, 88. Paroja, 89. Kharia, 90. Munda, 91. Santal, 92. Agharia, 93. Tanti, 94. Bhumij, 95. Birhor, 96. Ho, 97. Kharia, 98. Munda, 99. Santal, 100. Oraon, 101. Asur, 102. Gujarat Patel, 103. Chitpavan / Konkanastha Brahmin, 104. Desasth Brahmin, 105. Dhangar, 106. Maratha, 107. Katkari, 108. Mahadeo Koli, 109. Pawara, 110. Madia Gond, 111. Naba-Baudh, 112. Halba, 113. Kamar, 114. Muria, 115. Dheria Gond, 116. Satnami, 117. Teli, 118. Agharia, 119. Oraon, 120. Brahmin/Saryupari Brahmin, 121. Kuruchian, 122. Mullakurunan, 123. Paniyan, 124. Nair, 125. Bhovi, 126. Karnataka Christian, 127. Lingayat, 128. Gowda, 129. Iyengar, 130. Kuruva, 131. Koraga, 132. Yerava, 133. Karnataka Muslims, 134. Kota, 135. Kurumba, 136. Irula, 137. Betta Kurumba, 138. Mullu Kurumba, 139. Jenu Kurumba, 140. Toda, 141. Chakkiliar, 142. Gounder, 143. Kallar, 144. Pallar, 145. Vanniyar, 146. Ambalakarer, 147. Pallan, 148. Iyengar, 149. Iyer, 150. Vellalar, 151. Chenchu, 152. Koya, 153. Naikpod Gond, 154. Andh, 155. Bagata, 156. Lambadi, 157. Valmiki, 158. Poroja, 159. Siddis, 160. Kattunaikan, 161. Koya Dora, 162. Konda Reddy, 163. Yerukula, 164. AP Brahmin, 165. Kamma/Kamma Chaudhary, 166. Kapu/Kappu Naidu, 167. Komati, 168. Raju, 169. Reddy, 170. AP Kshatriya, 171. AP Vaishya, 172. AP Yadav, 173. Relli, 174. Madiga, 175. Mala, 176. Vizag Brahmin, 177. Peruru Brahmin, 178. Golla, 179. Pardhan, 180. Akutota, 181. Panta, 182. Pokanati, 183. Vanne, 184. Sakunupaksollu, 185. Great Andamanese, 186. Onge, 187. Jarwa, 188. Nicobarese, 189. Shompen

Figure 1.7: Map of India showing the location of the populations studied till date for Y chromosomal polymorphisms

1- 4

5- 8

34, 35 4

75-81

36

37, 38

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Journal of The Anthropological Survey of India, 62(2): (775-804), 2013

Another molecular genetic study, involving autosomal loci, mtDNA and Y

chromosome, by Bamshad et al. (2001) based on eight different caste populations (Upper

castes - Niyogi and Vydiki Brahmin, Kshatriya, Vysya; middle castes - Telega and Turpu

Kapu, Yadava; lower castes - Relli, Madiga, Mala) of Andhra Pradesh inferred that the upper

castes are more similar to Europeans than to Asians, middle castes are equidistant from the

two groups, and lower castes are most similar to Asians. It was observed that the genetic

distance between caste populations and Africans was progressively larger moving from lower

to middle to upper caste groups. Also, a neighbor-joining network of genetic distances, based

on autosomal Alu elements, between the castes of different ranks showed a clear

differentiation of caste of different ranks into separate clusters.

Thus, overall, the inferences drawn from these molecular genetic studies were found

to be concordant with that of the previous studies. Apart from these issues based on the

genetic relationships between the different population groups of the subcontinent, researchers

also tried to deal with queries, based on molecular genetic markers, pertaining to the peopling

of India by various ethnic groups, the past genetic history of these groups, origin of the

different tribal communities, establishment of caste system and so on. In this regard, mtDNA

and Y chromosome markers, owing to several advantageous properties such as uniparental

inheritance; high polymorphism and absence of recombination, have been used to address the

above mentioned major issues of Indian populations.

Y-chromosome polymorphism among Indian populations: The regions of India studied for

the different Y-chromosome polymorphisms have been depicted in Figure 1.7 and details of

the studied groups are given in Table 1.1. Overall, the Y-chromosome studies attempted on

about 200 populations sampled from different geographic regions support the findings of the

classical genetic and anthropological studies that there exist wide genetic differences between

tribes and upper castes and insignificant differences between the lower castes and tribes and

between closely ranked castes. Studies, in general, are in agreement with the independent

origin model put forward by Cordaux et al. (2004b) according to which castes and tribes have

independent origins. Current distribution of Y haplogroups in India is primarily associated

with geographic rather than linguistic or cultural determinants.

Y-chromosome data analysis suggests a Southeast Asian homeland for the Austro-

Asiatic speakers (Mundari group) of India (based on distribution of haplogroup O) and an

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indigenous Indian origin for the Dravidian speakers (based on the haplogroup L1 frequency

and associated microsatellite variance) (Sengupta et al. 2006). An East/Southeast Asian origin

for the Tibeto-Burman speakers of India was suggested based on the (I) presence of

haplogroup O3e which is typically found in East/Southeast Asia at frequencies up to 25% to

35% and is absent from India and elsewhere and (II) extensive Y-STR haplotype sharing

between northeast India and East/Southeast Asia (Cordaux et al. 2004b). With regard to the

caste populations, a South Asian origin for the Indian caste communities with minimal Central

Asian influence was proposed based on the absence of certain haplogroups in Indian samples

(C3, DE, J*, I, G, N and O) which covers almost half of the Central Asian Y chromosomes

and the presence of some haplogroups in Indian Y chromosomes (C*, F*, H, L and R2) that is

poor in Central Asia (Sahoo et al. 2006)

Mitochondrial DNA polymorphisms among Indian populations: Macrohaplogroup M: The

groups (about 170) studied for the different mitochondrial DNA polymorphisms (pertaining to

macrohaplogroup M) have been shown in Figure 1.8 and further details of these groups are

given in Table 1.2. Though the number of studies (~170 populations) contributed are scanty in

comparison to the numerous endogamous groups in India, these studies do provide us some

glimpse of the Indian mtDNA diversity and help in providing further insights into the past

genetic history of Man in India (Maji et al., 2009).

A majority of the populations (~ 60%) belong to macrohaplogroup M, a higher

frequency is observed among tribes than castes. Several Indian specific haplogroups (~ 22) of

M have been found, there by suggesting their probable in situ origin. The most ancient

haplogroup M2 is reported among the Mundari speaking Austro-Asiatic, Dravidian (southern)

and Indo-European speaking castes and tribes, but is completely absent among the studied

samples of Tibeto-Burman speakers. M3 is predominant among southern Dravidian tribes; M4

is absent in Austro-Asiatic tribes and M5 is more a caste specific haplogroup. Haplogroups

M31 and M32 are mainly found among Andaman tribes, but however, the sub-haplogroup of

M31, M31b shows presence in a Rajbanshi (WB) sample and another sub-haplogroup M31c is

present among the Khasi-Khumic speaking Austro-Asiatic tribes (Palanichamy et al. 2006,

Reddy et al. 2007, Thangaraj et al. 2005a). Some novel haplogroups especially M48, M49,

M50 are observed among Khasi sub-tribes (Reddy et al. 2007)

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Journal of The Anthropological Survey of India, 62(2): (775-804), 2013

Figure 1.8: Map of India showing the location of the populations studied for mitochondrial DNA polymorphisms with special reference to macrohaplogroup M

1- Mixed castes, 2- Kanet, 3-Lobana, 4- Jat Sikh, 5- Punjab Brahmins, 6- Scheduled Castes, 7- Mixed Caste, 8-

Khatris, 9- Kori, 10- Tharu, 11- Bhoksha/ Buksa, 12- Mixed Caste, 13- Chamar, 14- Bhargava, 15- Chaturvedi , 16- Rajput, 17- Yadava, 18. UP Brahmins, 19- Adi, 20- Apatani, 21- Nishi, 22- Naga, 23- Meitei, 24- Mizo, 25- Chakma, 26- Jamatia, 27- Mog, 28- Riang, 29- Tipperah / Tripuri, 30- Khasi, 31- Bhoi, 32- Maram, 33- Lyngnam, 34- Nongtrai, 35- War Jaintia, 36- War Khasi, 37- Pnar, 38- Khynriam, 39- Garo, 40- Bagdi, 41- Brahmins, 42- Lodha, 43- Mahishya, 44- Toto, 45- Mixed castes, 46- Kurmi, 47- Maheli, 48- Rajbansi, 49- Santal, 50- Bhumij, 51- Paharia, 52- Kharia, 53- Yadava, 54- Kurmi, 55- Baniya, 56- Oraon, 57- Rajput, 58- Santal, 59- Kharia, 60- Agharia, 61- Gaud, 62- Brahmins, 63- Karan, 64- Khandayat, 65- Gope, 66- Juang, 67- Paroja, 68- Saora, 69- Gadaba, 70- Tanti, 71- Bathudi, 72- Munda, 73- Munda, 74- Ho, 75- Bhumij, 76- Paharia, 77- Kharia, 78- Santal, 79- Oraon, 80- Tadvi, 81- Rathwa, 82- Mixed Caste, 83- Konkan Brahmins, 84- Maratha, 85- Naba-Baudh, 86- Parsi, 87- Katkari, 88- Pawara, 89- Chitpavan Brahmins, 90- Desasth Brahmins, 91- Dhangar, 92- Rajput, 93- Bharia , 94- Maria Gond, 95- Muria, 96- Halba, 97- Saryupari Brahmins, 98- Kamar, 99- Satnami, 100- Kanwar, 101- Nagesia, 102- Havik, 103- Kuruchian, 104- Mullukurunan, 105- Mixed castes (Cochin) , 106- Cochin Jews, 107- Toda, 108- Kadar, 109- Irula, 110- Kota, 111- Kurumba, 112- Paniyan, 113- Kadar, 114 - Brahmins: Havik, 115 - Mukri, 116 - Soligas, 117 - Koragas, 118 - Yerava, 119 - Gowda, 120- Kuruva, 121 - Christian, 122 - Bhovi, 123 - Lyngayat, 124 - Iyengar, 125 - Muslims, 126- Ambalakarar, 127- Iyer, 128- Pallar, 129- Vanniyar, 130- Kadar, 131- Pallan. 132- Vellala, 133- Jennukurumba, 134- Kattunaiken, 135- Mullukurumba, 136- Bettakurumba, 137- Oorali, 138- Baduga, 139-Sakkili, 140- Irula, 141-Kota, 142- Kurumba, 143- Iyengar, 144- Paniyan, 145 - Yerukula, 146 - Lambadi, 147 - Brahmins, 148 - Kshatriya, 149 - Vysya, 150 - Kapu, 151 - Madiga, 152 - Mala, 153 - Relli, 154 - Chenchu, 155 - Koya, 156 - Andh, 157 - Pardhi, 158 - Thoti, 159 - Pardhan, 160 - Naikpod Gond, 161 - Komati, 162 - Reddy, 163 - Thogataveera, 164 - Yanadi, 165 – Yadava, 166- Onge, 167- Great andamanese, 168- Jarawa, 169- Aka-Bea, 170- Nicobarese

790 Molecular Biological Perspectives of Tribes in India

Journal of the Anthropological Survey of India, 62(2): (775-804), 2013

Table 1.1: Number of populations studied, for Y-chromosomal polymorphisms, in different geographical regions of India

Geographic Region

No. of populations studied

References Denotation in Figure 1.7

North Jammu & Kashmir 4 Kashyap et al. 2006b 1 - 4 Himachal Pradesh 1 Kashyap et al. 2006b; Sahoo et al. 2006 5 Uttranchal 3 Kashyap et al. 2006b 6 - 8

Punjab 4 Kivisild et al. 1999; Basu et al. 2003; Kivisild et al. 2003; Cordaux et al. 2004a

9 - 12

Uttar Pradesh 17

Bhattacharya et al. 1999; Kivisild et al. 1999; Basu et al. 2003; Kivisild et al. 2003; Kashyap et al. 2006b; Sahoo et al. 2006; Sengupta et al. 2006; Zerjal et al. 2007

13 - 29

Northeast

Arunachal Pradesh 3 Cordaux et al. 2004b; Sahoo et al. 2006; Kashyap et al. 2006b

30 - 32

Assam 1 Cordaux et al. 2004b 33

Manipur 5 Basu et al. 2003; Sahoo et al. 2006; Kashyap et al. 2006b

34 - 38

Mizoram 5 Kashyap et al. 2006b; Sahoo et al. 2006 39 - 43 Tripura 6 Basu et al. 2003; Sengupta et al. 2006 44 - 49 Meghalaya 5 Kumar et al. 2007 50 - 54 Sikkim 3 Kashyap et al. 2006b; Sahoo et al. 2006 55 - 57

East

West Bengal 17 Bhattacharya et al. 1999; Basu et al. 2003; Kivisild et al. 2003; Cordaux et al. 2004a; Kashyap et al. 2006b; Sahoo et al. 2006; Sengupta et al. 2006

58 - 74

Bihar 7 Sahoo et al. 2006; Kashyap et al. 2006b 75 - 81

Orissa 12 Bhattacharya et al. 1999; Basu et al. 2003; Kashyap et al. 2006b; Kumar et al. 2007; Sahoo et al. 2006; Sengupta et al. 2006

82 - 93

Jharkhand 8 Basu et al. 2003; Kashyap et al. 2006b; Kumar et al. 2006; Sahoo et al. 2006

94 - 101

West

Gujarat 1 Kivisild et al. 2003; Cordaux et al. 2004a; Kashyap et al. 2006b; Sahoo et al. 2006

102

Maharashtra 9 Basu et al. 2003; Kivisild et al. 2003; Cordaux et al. 2004a; Kashyap et al. 2006b; Sahoo et al. 2006; Sengupta et al. 2006

103 - 111

Central Madhya Pradesh 3 Basu et al. 2003; Sengupta et al. 2006 112 - 114 Chattisgarh 6 Basu et al. 2003; Kashyap et al. 2006b 115 - 120 South Kerala 4 Cordaux et al. 2004a; Kashyap et al. 2006b 121 - 124

Karnataka 9 Cordaux et al. 2004a; Kashyap et al. 2006b; Sahoo et al. 2006

125 - 133

Tamil Nadu 18 Basu et al. 2003; Cordaux et al. 2004a; Kashyap et al. 2006b; Sahoo et al. 2006; Sengupta et al. 2006

134 - 150

Andhra Pradesh 34

Bamshad et al. 2001; Ramana et al. 2001; Kivisild et al. 2003; Cordaux et al. 2004a; Kashyap et al. 2006b; Sahoo et al. 2006; Sengupta et al. 2006; Thanseem et al. 2006

151 - 184

A & N Islands 5 Thangaraj et al. 2003; Kashyap et al. 2006b 185 – 189

Krithika S, Suvendu Maji, T. S. Vasulu 791

Journal of The Anthropological Survey of India, 62(2): (775-804), 2013

Table 1.2: Number of populations studied, in different geographical regions of India for mitochondrial DNA polymorphisms, with special reference to macrohaplogroup M

Geographic Region No. of populations

studied References

Denotation in Figure 1.8

North Jammu & Kashmir 1 Kivisild et al. 1999 1

Himachal Pradesh 1 Metspalu et al. 2004 2

Punjab 6 Kivisild et al. 1999; Kivisild et al. 2003; Basu et al. 2003; Metspalu et al. 2004; Thanseem et al. 2006

3 - 8

Uttar Pradesh 10

Kivisild et al. 1999; Roychoudhury et al. 2000; Kivisild et al. 2003; Cordaux et al. 2003; Basu et al. 2003; Metspalu et al. 2004; Sun et al. 2006; Thangaraj et al. 2005b; Kumar et al. 2006; Thanseem et al. 2006

9 - 18

Northeast

Arunachal Pradesh 3 Cordaux et al. 2003; Cordaux et al. 2004b; Thangaraj et al. 2005b

19 - 21

Assam 1 Cordaux et al. 2003; Cordaux et al. 2004b 22

Manipur 1 Basu et al. 2003 23

Mizoram 1 Basu et al. 2003 24

Tripura 5 Roychoudhury et al. 2000; Roychoudhury et al. 2001; Basu et al. 2003; Cordaux et al. 2003; Cordaux et al. 2004b

25 - 29

Meghalaya 10 Sun et al. 2006; Reddy et al. 2007 30 - 39

East

West Bengal 13

Roychoudhury et al. 2000; Roychoudhury et al. 2001; Basu et al. 2003; Cordaux et al. 2003; Metspalu et al. 2004; Thanseem et al. 2006; Sun et al. 2006; Rajkumar et al. 2005; Kumar et al. 2006

40 - 52

Bihar 5 Rajkumar et al. 2005; Thangaraj et al. 2005b; Thangaraj et al. 2006b

53 - 57

Orissa 15

Roychoudhury et al. 2000; Roychoudhury et al. 2001; Basu et al. 2003; Cordaux et al. 2003; Rajkumar et al. 2005; Kumar et al. 2006; Sahoo and Kashyap 2006; Thangaraj et al. 2006b

58 - 72

Jharkhand 7 Thangaraj et al. 2005b; Rajkumar et al. 2005; Kumar et al. 2006; Thangaraj et al. 2006b

73 - 79

West Gujarat 3 Metspalu et al. 2004; Thangaraj et al. 2006b 80 - 82

Maharashtra 9 Basu et al. 2003; Kivisild et al. 2003; Metspalu et al. 2004; Rajkumar et al. 2005; Gaikwad et al. 2005; Thanseem et al. 2006

83 - 91

Rajasthan 1 Metspalu et al. 2004; Thanseem et al. 2006 92

Central Madhya Pradesh

2

Thangaraj et al. 2005b; Watkins et al. 1999

93, 94

Chattisgarh 7

Roychoudhary et al. 2000; Roychoudhary et al. 2001; Basu et al. 2003; Thangaraj et al. 2005b; Kumar et al. 2006 95 - 101

792 Molecular Biological Perspectives of Tribes in India

Journal of the Anthropological Survey of India, 62(2): (775-804), 2013

Table 1.2 Contd… South

Kerala 12

Mountain et al. 1995; Edwin et al. 2002; Cordaux et al. 2003; Basu et al. 2003; Metspalu et al. 2004; Thanseem et al. 2006; Thangaraj et al. 2006b

102 - 113

Karnataka 12 Mountain et al. 1995; Cordaux et al. 2003; Rajkumar et al. 2005; Thanseem et al. 2006

114 - 125

Tamil Nadu 19

Watkins et al. 1999; Roychoudhury et al. 2000; Roychoudhury et al. 2001; Edwin et al. 2002; Basu et al. 2003; Cordaux et al. 2003; Thangaraj et al. 2005b; Thanseem et al. 2006; Thangaraj et al. 2006b

126 - 144

Andhra Pradesh 21

Bamshad et al. 1996; Bamshad et al. 1998; Kivisild et al. 1999; Bamshad et al. 2001; Kivisild et al. 2003; Cordaux et al. 2003; Sun et al. 2006; Rajkumar et al. 2005; Thangaraj et al. 2005b; Thanseem et al. 2006; Thangaraj et al. 2006b

145 - 165

A & N Islands 5 Thangaraj et al. 2003; Endicott et al. 2003; Thangaraj et al. 2005a, b; Thangaraj et al. 2006b

166 - 170

The distribution of the sub-haplogroups of M, among the tribes and castes, across the

different regions of India is shown in Figures 1.9a and 1.9b. A majority of mtDNA M sub-

haplogroups pervades among the castes and tribes, though some sub-haplogroups differ

between the two and some more specific to either castes or tribes. For example, few

haplogroups such as M25, M35, M38 and M39 show almost similar frequencies among castes

and tribes, although these are found at low frequencies (less than 5%). The haplogroups M34

and M36 are observed only among castes whereas six haplogroups: M32, M34, M41, M48,

M49 and M50 are found in tribes only. While some haplogroups are more predominant in

castes, some others are prevalent among tribes. For example, five haplogroups: M2, M3, M18,

M31 and M33 show higher frequencies in tribes than castes and five other haplogroups: M4,

M5, M6, M30 and M37 are more prevalent among castes than in tribes. Of the observed

haplogroups, M5 and M31 showed significant differences (at 95% confidence interval) among

castes and tribes. Figure 1.10 also shows the frequency distribution of the M haplogroups

among the studied castes and tribes of India.

Krithika S, Suvendu Maji, T. S. Vasulu 793

Journal of The Anthropological Survey of India, 62(2): (775-804), 2013

Figure 1.9a: Distribution of the sub-haplogroups of M, among the tribes, across the different regions of India [A- Northern; B- North-Eastern; C- Eastern; D- Southern; E- Western; F- Central]

TB

AA

IEU

TB

AA DRV

IEU

IEU DRV

IEU

DRV

IEU

UNCLS

ANDAMANESE 4

M2 M3 M4 M5 M6 M18 M25 M30M31 M32 M33 M34 M35 M36 M37 M38M39 M40 M41 M48 M49 M50 M*/ M

IEU: Indo-European; TB: Tibeto-Burman; AA: Austro-Asiatic; DRV: Dravidian

A

B

C

D

E F

TRIBES

794 Molecular Biological Perspectives of Tribes in India

Journal of the Anthropological Survey of India, 62(2): (775-804), 2013

Figure 1.9b: Distribution of the sub-haplogroups of M, among the castes, across the different regions of India [A- Northern; B- North-Eastern; C- Eastern; D- Southern; E- Western; F- Central]

4

M2 M3 M4 M5 M6 M18 M25 M30M31 M32 M33 M34 M35 M36 M37 M38M39 M40 M41 M48 M49 M50 M*/ M

IEU: Indo-European; TB: Tibeto-Burman; AA: Austro-Asiatic; DRV: Dravidian

A

B

C

D

E

F

CASTES

Krithika S, Suvendu Maji, T. S. Vasulu 795

Journal of The Anthropological Survey of India, 62(2): (775-804), 2013

Figure 1.10: Frequency distribution of the sub-haplogroups of M among castes and tribes of India

Interestingly, the two branches of the Austro-Asiatic linguistic family exhibit

differences in their haplogroup diversity: the Mon-Khmer branch of north-eastern region

showing greater haplogroup diversity than the Mundari branch of the eastern region. Also, the

tribes of the same linguistic family distributed over different geographical regions show

differences in their haplogroup diversity. Dravidian tribes of the southern region were found to

show more number of haplogroups of M than those of the central and the eastern regions. The

tribes of Andaman-and-Nicobar Islands show unique haplogroup composition, different from

the other tribal populations of the subcontinent. Among the castes, the Indo-European

speakers of the northern region and the Dravidian speakers of the southern region show more

haplogroup diversity than the caste populations of other regions.

Overview of the mtDNA studies: Macrohaplogroup M: The Indian picture of M haplogroup

distribution shows wide prevalence of some haplogroups across the regions and ethnicity,

though some show affiliations to regions and ethnicity. The uneven distribution of M sub-

haplogroups across linguistic, ethnic and geographic boundaries could possibly be explained

0.00

5.00

10.00

15.00

20.00

25.00

30.00

M2

M3

M4

M5

M6

M18

M25

M30

M31

M32

M33

M34

M35

M36

M37

M38

M39

M40

M41

M48

M49

M50

M/ M

*

SUB-HAPLOGROUPS

Fre

quen

cy

C T

796 Molecular Biological Perspectives of Tribes in India

Journal of the Anthropological Survey of India, 62(2): (775-804), 2013

by the (a) low molecular resolution: since few general markers are being used to predate the

population subdivisions, every population becomes similar and also, if the population

diversification is relatively recent, there is not enough time to generate and accumulate

mutations; (b) high level of interbreeding and admixture between populations; (c) sub

structuring of populations into small endogamous units, each of which evolves independently

and the genetic drift erases the general genetic signatures of population histories. Possibly a

better picture is expected to emerge in future with the addition of more representative and

adequate samples of the total of 4635 communities.

One of the most important and well appreciated fact is that mtDNA generate an

enormous impact in understanding the past genetic history of man and especially the maternal

migration of the populations that shaped the entire mankind. Among the M haplogroups, M2

is the most ancient (the estimated coalescence time around 60,200 ± 8,600 years) and is found

mostly among the Dravidian castes (except for Chenchu and Koya among tribes) and Mundari

speaking Austro-Asiatic tribes. This estimated coalescence time of M2 corroborates with the

‘Out of Africa’ theory of human evolution. The complex mtDNA tree could be the result of

population expansion. The absence of M2 and the presence of east/southeast Asian specific

mtDNA haplogroups (of macrohaplogroup N) among the Tibeto-Burman speakers of

northeast India suggest their independent origin and relatively recent entry possibly from

east/southeast Asian regions.

There are several limitations in these studies that might influence the inferences drawn.

The implemented sampling strategy is one of the major constraints, as the selected samples do

not always wholly represent the studied populations with reference to their geographical

settlement as well as their size. Furthermore, constraint also prevails in the laboratory

techniques and the lack of quality control in sequencing and identification of mutation sites.

For example, many published sequences on scrutiny were found to be erroneous (Sun et al.

2006 on the study of Rajkumar et al. 2005), that is often misleading. The study based on about

3.6% of the Indian populations so far reveal vast mtDNA diversity and several unique

haplogroups as a result of which the mtDNA phylogenetic tree depicts a very complex

scenario that lead to difficulty in discerning the patterns. And with such increasing studies

including more number of populations will further complicate the mtDNA phylogenetic tree.

This raises the necessity for developing improved methods of classification of the mtDNA

haplogroups to enable to obtain a better clarity of the mtDNA diversity of the Indian

populations.

Krithika S, Suvendu Maji, T. S. Vasulu 797

Journal of The Anthropological Survey of India, 62(2): (775-804), 2013

Mitochondrial DNA polymorphisms among Indian populations: Macrohaplogroup N: Figure

1.11 shows the geographical regions where haplogroups and sub-haplogroups of N have been

reported and the region-wise distribution of macrohaplogroup N in India is depicted in Figure

1.12.

Overall, the mtDNA N haplogroup distribution, among about 130 castes and tribes of

different regions show wide diversity (Maji et al, 2008). The number of studied castes and

tribes vary between regions; from few castes and tribes in central region to around 25 castes

and tribes in southern region. Despite the disparity in the number of castes and tribes studied

in different regions certain trends of variation in haplogroup distribution can be observed

especially with respect to sub-haplogroups R and U. For example, the western region exhibits

39 R sub-haplogroups among 12 castes studied where as central region shows only four sub-

haplogroups among the caste populations studied. In case of southern region, the studied caste

populations show 18 different sub-haplogroups of R and among tribes, the southern region

shows as many as 17 R sub-haplogroups. The tribes from island regions show 6 haplogroups

and in the central region, the studied tribes hardly show any R-haplogroup diversity.

In case of U-sub-haplogroup distribution, the western region shows the highest of 18

different haplogroups among 12 castes. 19 haplogroups have been observed among 25 castes

studied in the southern region and the sub-haplogroup was absent among studied castes of the

central region. Among tribes, the northern region (one tribe) exhibit five sub-haplogroups of U

and the northeastern region shows more homogeneity among the groups studied (for example,

13 tribes exhibit only 5 different sub-haplogroups of U). Overall, the southern region shows

higher haplogroup diversity than the other regions, it shows 16 different haplogroups of U

among 24 tribes studied. Possibly more mtDNA diversity studies on diverse ethnic

populations of India will provide a better understanding of the maternal genetic history of

Indian populations besides revealing more patterns that could be related to their geography,

language and ethnicity.

798 Molecular Biological Perspectives of Tribes in India

Journal of the Anthropological Survey of India, 62(2): (775-804), 2013

1

2

3 -7

8 - 20

24

21-23

25 26

27 - 31

32, 33

34 - 43

44 - 57

58 59 - 61

70

62 - 69

71, 72

73 - 77

107 - 126

85 - 90

91 - 106 78 - 84

127 - 129

130, 131

1- Mixed Caste, 2- Kanet, 3- Jat Sikh, 4- Scheduled Caste, 5- Punjab Brahmins, 6- Lobanas, 7- Mixed Caste, 8- Rohidas, 9- UP Brahmins, 10- Chamar, 11- Muslims, 12- Rajput, 13- Khatris, 14- Tharu, 15- Buksa, 16- Bhargava, 17- Chatruvedi, 18- Mixed Caste, 19- Yadava, 20- Tiwari, 21- Adi, 22- Apatani, 23- Nishi, 24- Naga, 25- Meitei, 26- Mizo, 27- Tipperah, 28- Chakma, 29- Jamatia, 30- Mog, 31- Riang, 32- Khasi, 33- Garo, 34- Lodha, 35- Santal, 36- Munda, 37- Bagdi, 38- WB Brahmins, 39- Mahiashya, 40- Toto, 41- Rajbhansi, 42- Mixed Caste , 43- Kurmi, 44- Agharia, 45- Gaud, 46- Juang, 47- Munda, 48- Tanti, 49- Saora, 50- Paroja, 51- Gope, 52- Karan, 53- Bhuiyan, 54- Bathudi, 55- Khandayat, 56- Orissa Brahmins, 57- Gadaba, 58- Ho, 59- Gujrati, 60- Mixed Caste, 61- Kathodi, 62- Desasth Brahmins, 63- Chitpavan Brahmins, 64- Dhangar, 65- Maratha, 66- Konkanastha Brahmins, 67- Naba Baudh, 68- Other Maharashtrian Brahmins, 69- Parsi, 70- Rajput, 71- Gond, 72- Koli, 73- Muria, 74- Kanwar, 75- Kamar, 76- Halba, 77- Saryupari Brahmins, 78- Kadar, 79- Toda, 80- Kuruchian, 81- Mullukurunan, 82- Paniyan, 83- Mixed Caste, 84- Cochin Jews, 85- Havik, 86- Mukri, 87- Soliga, 88- Koraga, 89- Yerava,90- Karnataka Brahmins, 91- Irula, 92- Kota, 93- Kurumba, 94- Ambalakarer, 95- Iyer, 96- Iyengar, 97- Pallan, 98- Vanniyar, 99- Kadar, 100- Paniyan, 101- Vellala, 102- Jennukurumba, 103- Kattunaikan, 104- Mullukurumba, 105- Bettakurumba, 106- Baduga, 107- Niyogi Brahmins, 108- Vydiki Brahmins, 109- Kshtriya, 110- Vyaya, 111- Teliga, 112- Turpu Kapu, 113- Yadava, 114- Relli, 115- Madiga, 116- Mala, 117- Pardhan, 118- Naikpod, 119- Chenchu, 120- Koya, 121- Lambadi, 122- Pardhi, 123- Thoti, 124- AP Brahmins, 125- Reddy, 126- Thogataveera, 127- Jarwa, 128- Onge, 129- Great Andamanese, 130- Nicobarese, 131- Shompen.

Figure 1.11: Map of India showing the location of the populations studied for mitochondrial DNA polymorphisms, with special reference to macrohaplogroup N

62-69

130, 131

127-129

78-84

91-106

85-90

107-126

59 - 61

1

70 8 - 20 21-23

73-77

71, 72 58

27 - 31

26 25

24

44 - 57

34 - 43

32 - 33

3-7 2

Krithika S, Suvendu Maji, T. S. Vasulu 799

Journal of The Anthropological Survey of India, 62(2): (775-804), 2013

Figure 1.12: Region wise distribution of mitochondrial DNA macrohaplogroup N in India

The inferences drawn upon the past genetic history of the Indian populations, based on

the distribution of the Y-chromosome polymorphisms and the mtDNA haplogroups M and N

in different regions of India, is discussed below.

D. Antiquity or past genetic history-molecular genetic studies:

Regarding the Austro-Asiatic speaking tribal populations, the results of the molecular genetic

studies, in general, indicate that these populations are the earliest inhabitants of the Indian

subcontinent. The analysis of mtDNA restriction site polymorphisms (RSPs) and control

region (HV1) showed greater mtDNA haplotype diversity and high HV1 nucleotide diversity

among the Austro-Asiatic speakers thereby indicating their greater antiquity (Roychoudhury et

al. 2001, Basu et al. 2003). Also the mtDNA studies revealed different demographic histories

K K2a U

* U2 U2

a U2c U2

i U5 U

7

R R* R5 R6 R7 R30 H14 HV TJ N1 J2 T X

U1a U2

a U2b U

3 U5a1 U

7 K1a1 K U2

i U*

N1 N N5 N1d H HV J1b J1c1 T1a T2a R5 R30 R31 R* TJ X

U U* U2i U7 A R*

U A N R

U2i

HV pHV R* R/HV R6

U U2a U2b U7 U2i U7a

H R* R/HV R/HV3 R5 R7 T

U3 U2

a U2c U2

b U8 U2

a U2c U

4 K U7 U2

i U* U

8 U5a1a

HV N1 N* N R R5 R6 R* B F H J2 I X

U* U2i U7

U* U2i U7

R R5 R*

R*

U* U2

i U7 U1

a U2e R R*

U* U2

i U7 U2

b U2c

B F H HV TJ N1 R* N* J1 W X

A B F HV TJ N1 X I1 W3 R1 R6 R7 N R30 R31 R* Pre - HV1 HV2 T T1a T2

T2b U U4 U7 U2i

U HV N T

U* U1 U2i U7

B F HV TJ N1 N R* X

F

B5b B6 R8 U2b R

*

A HV TJ N1 X R*

R A F U A F U

A F U

B5a B5a1 F1a1a1 F Fa1a1 R12

13

7 16

20

14

5

5

1

6

2

3

8

1

2

3

O F R R* R6 R9* J W H HV F* F1b U* U2a

U2b U2i

10

R* R R2 R5 R6 R9 R9a R9* R10 R11

T T* T1 T2

5

1

U U2 U2b U5 U7

R R9 W

1

R7 U U

U

U 1 1

5

Caste # Populations

Tribe

800 Molecular Biological Perspectives of Tribes in India

Journal of the Anthropological Survey of India, 62(2): (775-804), 2013

for the maternal lineages of the Mundari and the Mon-Khmer groups of Austro-Asiatic

linguistic family suggestive of multiple origins of the Austro-Asiatic groups of the Indian

subcontinent (Thangaraj et al. 2005b, Kumar et al. 2006, 2008). While the Mundari groups

were found to carry predominantly Indian-specific mtDNA haplogroups, the Mon-Khmer

speakers possessed East Asian specific mtDNA haplogroups. Based on these results, it was

inferred that the ancestors of present-day Mundari groups might have been the first to arrive in

India through the western Indian corridor, subsequently migrating to Southeast Asia. This was

probably followed by the migration of the Khasi and later by the Nicobarese from Southeast

Asia. Hence the results not only suggested distinct genetic origins of the Austro-Asiatic

linguistic subgroups, but also indicated a non-Asian and Asian source of migration of the

Mundari and the Mon-Khmer populations of India, respectively (Kumar et al. 2006). Further,

the autosomal marker study among diverse tribes of India also showed wide divergence

between Khasi and Mundari groups, thus corroborating the study on mtDNA (Krithika et al.,

2009). However, in contrast to the mtDNA studies, the Y-chromosome studies indicated a

common paternal heritage of the Austro-Asiatic populations (Kumar et al. 2007). The

predominance of Y-chromosome haplogroup O2a-M95 in Austro-Asiatic speaking

populations of India and Southeast Asia and its absence/negligible presence in other Asian

populations suggests a common genetic heritage of the people of this linguistic family (Kumar

et al. 2007). Further analyses indicated that that the haplogroup O2a-M95 had originated

(around 65,000 YBP) in the Mundari speaking Austro-Asiatic populations of India, in contrast

to Kayser et al. (2003) who suggested a Southeast Asian origin for O2a-M95. Kayser et al.

(2003) suggested the migration of the Austro-Asiatic populations from Southeast Asia to India

whereas Kumar et al. (2007) argued that the ancestors of the present day Mundari speakers

carried this haplogroup from India further to Southeast Asia through the northeast Indian

corridor. Hence, the study by Kumar et al. (2007) thus inferred that most likely these Mundari

populations have come from Central Asia through the Western Indian corridor and

subsequently colonized Southeast Asia.

Pertaining to Dravidian speakers, a mtDNA study (Quintana-Murci et al. 2004)

supported the earlier proposed proto-Elamite hypothesis of their origin, whereas an indigenous

origin of the Dravidian speakers was put forward in a recent study (Sengupta et al. 2006)

based on Y-chromosome haplogroup distribution and the associated Y-STR variance. Based

on the pattern of genetic variation, the study inferred that Dravidian speakers may have been

more widespread before the Indo-European speakers entered into India and later retreated

Krithika S, Suvendu Maji, T. S. Vasulu 801

Journal of The Anthropological Survey of India, 62(2): (775-804), 2013

southward (their present habitat) to avoid Indo-European dominance [‘Elite Dominance

Model’]. A recent study based on autosomal markers have shown genetic affinity between the

Dravidian tribes and the Austro-Asiatic speaking tribes, suggesting the strong contention, that

the they possibly derived from a common ancestor in remote past and their divergent linguistic

backgrounds could be attributed to their migration to different geographical regions and

consequent isolation has brought significant changes in their language (Krithika et al., 2009)

An overview of the molecular genetic studies of Indian populations reveals that among

the studied populations (~200), TB groups constituted only roughly around 10% of the total

studied populations and hardly represented the vast diversity of the TB groups of India. In this

regard, mtDNA studies on Tibeto-Burman populations suggest a probable East Asian origin as

they harbour low frequency of mtDNA haplogroup M and possess higher frequency of East

Asian specific mtDNA haplogroups (A & F) thereby indicating their close genetic affinity

with East Asian groups (Cordaux et al. 2003). The Y-lineages (high frequency of haplogroup

O-M134) of the TB groups were also found to be more closely related to East/Southeast Asia

than to other Indian Y lineages (Cordaux et al. 2004b) and also extensive sharing of the Y

STR haplotypes between the Indian TB groups and East/Southeast Asians were also reported.

Overall the TB groups of India were found to exhibit high homogeneity among the groups

(both their Y-chromosomes and mtDNA) and are also characterized by reduced Y-

chromosome diversity, in contrast to their extensive mtDNA diversity (Cordaux et al. 2004b).

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