Related Articles
The Bhils are inhabitants of Dhar, Jhabua, Khargone and Ratlam distrcits of Madhya Pradesh. A large number of Bhils live in the neighbouring States of Maharashtra, Gujarat and Rajasthan. They constitute the third largest tribe of India; the first two being Gonds and Santhals. They utilize a large number of plant species occurring wild in the district as herbal remedies in various diseases and ailments. An ethno-medico-botanical survey was conducted in the tribal blocks. Viz. Kathiware, Alirajpur and Sodhwa blocks of Jhabua district, M. P. The authors have gathered first-hand information on seventy – five plant species and their mode of therapeutic uses from the tribal medicine men ‘Badwa’ and other experienced tribals. The present study has brought of light some interesting data on potential medicinal plants which will be screened for determining their therapeutic and pharmacodynamic properties.
PMCID: PMC3331472
PMID: 22557535
BACKGROUND:
The present sero-genetic study is the first of its kind to present the baseline data of Bharia tribe of Madhya Pradesh. The main aim of this study is to provide phenotype and allele-frequency data to characterize the population genetically and to fill the void on the genetic map of Madhya Pradesh.
MATERIALS AND METHODS:
For this, blood samples from 92 unrelated healthy individuals of Bharia tribe from Chhindwara district (Tamia block) were collected. Hemolysates prepared were analyzed for two serological (A1A2BO and Rh) and six biochemical (adenosine deaminase, adenylate kinase locus 1, acid phosphatase locus 1, phosphoglucomutase locus 1, esterase D and glucosephosphate isomerase) parameters, following the standard electrophoretic techniques.
RESULTS:
The Chi-square test for goodness of fit revealed no significant deviation between the observed and expected numbers in any of the seven genetic markers, suggesting that the tribe is in genetic equilibrium. A high incidence of B allele in A1A2BO blood group and low incidence of the A1 allele, with presence of A2 in only one individual, and a low frequency of Rh(D) (Rh negative allele) was observed in serological markers. Also, no rare variant was observed for biochemical markers.
CONCLUSION:
Principal Component Analysis done in order to detect the genetic affinity of Bharia tribe with other populations from the adjoining states of Madhya Pradesh based on the allele frequencies, showed a close association of Bharia with Gujarat and Rajasthan. Hence, this study has been helpful in revealing the genetic structure and affinity of Bharia tribe.
doi:10.4103/0971-6866.73401
PMCID: PMC3009422
PMID: 21206699
Bharia; Madhya Pradesh; sero-genetic
Background:
A survey made in 1991-92, reported Sahariya, a primitive tribe of India (M. P.), having high prevalence of pulmonary tuberculosis. No follow-up study was undertaken thereafter.
Objective:
The present study was aimed to know the current status of tuberculosis (TB) in Sahariya after more than a decade of the last survey of 1991-92, as compared to that in Bhil, another primitive tribe living in the same area but never investigated for TB incidence.
Materials and Methods:
A total of 763 random sputum smears from Sahariya and 169 sputum smears from Bhil were screened for the presence of Mycobacterium tuberculosis (M..tb) in order to evaluate the prevalence of pulmonary tuberculosis in both the tribes. Chi square (χ2) statistics was performed to study the correlation between age, sex on the one hand and with the prevalence of smear-positive pulmonary TB on the other hand, if any.
Results:
In Sahariya, the prevalence of smear-positive pulmonary TB was found increased significantly (P<0.005) to 0.454 as against 0.274 estimated in the earlier survey (1991-92). Males, particularly, appeared most affected (P<0.005; 0.382), especially adults (0.260). In contrast, among Bhil, the prevalence was very low.
Conclusion:
The observed increase in TB prevalence and its gender bias in Sahariya tribe indicate the high incidence rate and faster transmission of infection, especially in male sex.
doi:10.4103/0970-0218.66887
PMCID: PMC2940183
PMID: 20922104
Bhil; prevalence; Sahariya; sputum smear; tuberculosis
An ethno-medical survey was conducted in the tribal pockets of Tamiya and Petalkot of Madhya Pradesh wherein “Bharia” and “Gond” tribes inhabit. This paper presents 22 medicinal plants belonging to 17 families, used as tonic medicine among them.
PMCID: PMC3331385
PMID: 22557600
Background
We have examined genetic diversity at fifteen autosomal microsatellite loci in seven predominant populations of Orissa to decipher whether populations inhabiting the same geographic region can be differentiated on the basis of language or ancestry. The studied populations have diverse historical accounts of their origin, belong to two major ethnic groups and different linguistic families. Caucasoid caste populations are speakers of Indo-European language and comprise Brahmins, Khandayat, Karan and Gope, while the three Australoid tribal populations include two Austric speakers: Juang and Saora and a Dravidian speaking population, Paroja. These divergent groups provide a varied substratum for understanding variation of genetic patterns in a geographical area resulting from differential admixture between migrants groups and aboriginals, and the influence of this admixture on population stratification.
Results
The allele distribution pattern showed uniformity in the studied groups with approximately 81% genetic variability within populations. The coefficient of gene differentiation was found to be significantly higher in tribes (0.014) than caste groups (0.004). Genetic variance between the groups was 0.34% in both ethnic and linguistic clusters and statistically significant only in the ethnic apportionment. Although the populations were genetically close (FST = 0.010), the contemporary caste and tribal groups formed distinct clusters in both Principal-Component plot and Neighbor-Joining tree. In the phylogenetic tree, the Orissa Brahmins showed close affinity to populations of North India, while Khandayat and Gope clustered with the tribal groups, suggesting a possibility of their origin from indigenous people.
Conclusions
The extent of genetic differentiation in the contemporary caste and tribal groups of Orissa is highly significant and constitutes two distinct genetic clusters. Based on our observations, we suggest that since genetic distances and coefficient of gene differentiation were fairly small, the studied populations are indeed genetically similar and that the genetic structure of populations in a geographical region is primarily influenced by their ancestry and not by socio-cultural hierarchy or language. The scenario of genetic structure, however, might be different for other regions of the subcontinent where populations have more similar ethnic and linguistic backgrounds and there might be variations in the patterns of genomic and socio-cultural affinities in different geographical regions.
doi:10.1186/1471-2156-6-4
PMCID: PMC549189
PMID: 15694006
ArunKumar, GaneshPrasad | Soria-Hernanz, David F. | Kavitha, Valampuri John | Arun, Varatharajan Santhakumari | Syama, Adhikarla | Ashokan, Kumaran Samy | Gandhirajan, Kavandanpatti Thangaraj | Vijayakumar, Koothapuli | Narayanan, Muthuswamy | Jayalakshmi, Mariakuttikan | Ziegle, Janet S. | Royyuru, Ajay K. | Parida, Laxmi | Wells, R. Spencer | Renfrew, Colin | Schurr, Theodore G. | Smith, Chris Tyler | Platt, Daniel E. | Pitchappan, Ramasamy | Kayser, Manfred
Previous studies that pooled Indian populations from a wide variety of geographical locations, have obtained contradictory conclusions about the processes of the establishment of the Varna caste system and its genetic impact on the origins and demographic histories of Indian populations. To further investigate these questions we took advantage that both Y chromosome and caste designation are paternally inherited, and genotyped 1,680 Y chromosomes representing 12 tribal and 19 non-tribal (caste) endogamous populations from the predominantly Dravidian-speaking Tamil Nadu state in the southernmost part of India. Tribes and castes were both characterized by an overwhelming proportion of putatively Indian autochthonous Y-chromosomal haplogroups (H-M69, F-M89, R1a1-M17, L1-M27, R2-M124, and C5-M356; 81% combined) with a shared genetic heritage dating back to the late Pleistocene (10–30 Kya), suggesting that more recent Holocene migrations from western Eurasia contributed <20% of the male lineages. We found strong evidence for genetic structure, associated primarily with the current mode of subsistence. Coalescence analysis suggested that the social stratification was established 4–6 Kya and there was little admixture during the last 3 Kya, implying a minimal genetic impact of the Varna (caste) system from the historically-documented Brahmin migrations into the area. In contrast, the overall Y-chromosomal patterns, the time depth of population diversifications and the period of differentiation were best explained by the emergence of agricultural technology in South Asia. These results highlight the utility of detailed local genetic studies within India, without prior assumptions about the importance of Varna rank status for population grouping, to obtain new insights into the relative influences of past demographic events for the population structure of the whole of modern India.
doi:10.1371/journal.pone.0050269
PMCID: PMC3508930
PMID: 23209694
Chaubey, Gyaneshwer | Metspalu, Mait | Choi, Ying | Mägi, Reedik | Romero, Irene Gallego | Soares, Pedro | van Oven, Mannis | Behar, Doron M. | Rootsi, Siiri | Hudjashov, Georgi | Mallick, Chandana Basu | Karmin, Monika | Nelis, Mari | Parik, Jüri | Reddy, Alla Goverdhana | Metspalu, Ene | van Driem, George | Xue, Yali | Tyler-Smith, Chris | Thangaraj, Kumarasamy | Singh, Lalji | Remm, Maido | Richards, Martin B. | Lahr, Marta Mirazon | Kayser, Manfred | Villems, Richard | Kivisild, Toomas
The geographic origin and time of dispersal of Austroasiatic (AA) speakers, presently settled in south and southeast Asia, remains disputed. Two rival hypotheses, both assuming a demic component to the language dispersal, have been proposed. The first of these places the origin of Austroasiatic speakers in southeast Asia with a later dispersal to south Asia during the Neolithic, whereas the second hypothesis advocates pre-Neolithic origins and dispersal of this language family from south Asia. To test the two alternative models, this study combines the analysis of uniparentally inherited markers with 610,000 common single nucleotide polymorphism loci from the nuclear genome. Indian AA speakers have high frequencies of Y chromosome haplogroup O2a; our results show that this haplogroup has significantly higher diversity and coalescent time (17–28 thousand years ago) in southeast Asia, strongly supporting the first of the two hypotheses. Nevertheless, the results of principal component and “structure-like” analyses on autosomal loci also show that the population history of AA speakers in India is more complex, being characterized by two ancestral components—one represented in the pattern of Y chromosomal and EDAR results and the other by mitochondrial DNA diversity and genomic structure. We propose that AA speakers in India today are derived from dispersal from southeast Asia, followed by extensive sex-specific admixture with local Indian populations.
doi:10.1093/molbev/msq288
PMCID: PMC3355372
PMID: 20978040
Austroasiatic; mtDNA; Y chromosome; autosomes; admixture
Background
India is a country with enormous social and cultural diversity due to its positioning on the crossroads of many historic and pre-historic human migrations. The hierarchical caste system in the Hindu society dominates the social structure of the Indian populations. The origin of the caste system in India is a matter of debate with many linguists and anthropologists suggesting that it began with the arrival of Indo-European speakers from Central Asia about 3500 years ago. Previous genetic studies based on Indian populations failed to achieve a consensus in this regard. We analysed the Y-chromosome and mitochondrial DNA of three tribal populations of southern India, compared the results with available data from the Indian subcontinent and tried to reconstruct the evolutionary history of Indian caste and tribal populations.
Results
No significant difference was observed in the mitochondrial DNA between Indian tribal and caste populations, except for the presence of a higher frequency of west Eurasian-specific haplogroups in the higher castes, mostly in the north western part of India. On the other hand, the study of the Indian Y lineages revealed distinct distribution patterns among caste and tribal populations. The paternal lineages of Indian lower castes showed significantly closer affinity to the tribal populations than to the upper castes. The frequencies of deep-rooted Y haplogroups such as M89, M52, and M95 were higher in the lower castes and tribes, compared to the upper castes.
Conclusion
The present study suggests that the vast majority (>98%) of the Indian maternal gene pool, consisting of Indio-European and Dravidian speakers, is genetically more or less uniform. Invasions after the late Pleistocene settlement might have been mostly male-mediated. However, Y-SNP data provides compelling genetic evidence for a tribal origin of the lower caste populations in the subcontinent. Lower caste groups might have originated with the hierarchical divisions that arose within the tribal groups with the spread of Neolithic agriculturalists, much earlier than the arrival of Aryan speakers. The Indo-Europeans established themselves as upper castes among this already developed caste-like class structure within the tribes.
doi:10.1186/1471-2156-7-42
PMCID: PMC1569435
PMID: 16893451
Rai, Niraj | Chaubey, Gyaneshwer | Tamang, Rakesh | Pathak, Ajai Kumar | Singh, Vipin Kumar | Karmin, Monika | Singh, Manvendra | Rani, Deepa Selvi | Anugula, Sharath | Yadav, Brijesh Kumar | Singh, Ashish | Srinivasagan, Ramkumar | Yadav, Anita | Kashyap, Manju | Narvariya, Sapna | Reddy, Alla G. | van Driem, George | Underhill, Peter A. | Villems, Richard | Kivisild, Toomas | Singh, Lalji | Thangaraj, Kumarasamy | Yao, Yong-Gang
Linguistic and genetic studies on Roma populations inhabited in Europe have unequivocally traced these populations to the Indian subcontinent. However, the exact parental population group and time of the out-of-India dispersal have remained disputed. In the absence of archaeological records and with only scanty historical documentation of the Roma, comparative linguistic studies were the first to identify their Indian origin. Recently, molecular studies on the basis of disease-causing mutations and haploid DNA markers (i.e. mtDNA and Y-chromosome) supported the linguistic view. The presence of Indian-specific Y-chromosome haplogroup H1a1a-M82 and mtDNA haplogroups M5a1, M18 and M35b among Roma has corroborated that their South Asian origins and later admixture with Near Eastern and European populations. However, previous studies have left unanswered questions about the exact parental population groups in South Asia. Here we present a detailed phylogeographical study of Y-chromosomal haplogroup H1a1a-M82 in a data set of more than 10,000 global samples to discern a more precise ancestral source of European Romani populations. The phylogeographical patterns and diversity estimates indicate an early origin of this haplogroup in the Indian subcontinent and its further expansion to other regions. Tellingly, the short tandem repeat (STR) based network of H1a1a-M82 lineages displayed the closest connection of Romani haplotypes with the traditional scheduled caste and scheduled tribe population groups of northwestern India.
doi:10.1371/journal.pone.0048477
PMCID: PMC3509117
PMID: 23209554
BACKGROUND:
Gujarat is located at the western most point of the Indian subcontinent. Valsad and Surat districts are part of the ‘tribal belt’of Gujarat and constitute 29.1% of total tribal population of Gujarat. These tribal populations are a rich source of gaining insights in the patterns of genetic diversity and genetico-environmental disorders against the back drop of their ecological, historical and ethnographic aspects.
AIM:
The objectives were to find out a) the genetic diversity among the tribes of Gujarat with reference to haptoglobin (Hp) locus b) the relationship between Hp polymorphism and sickle cell anemia/trait.
MATERIALS AND METHODS:
431 individuals belonging to eight tribal groups were studied for Hp polymorphism using polyacrylamide disc gel electrophoresis (PAGE). Hb*S was screened by dithionate tube turbididy (DTT) test and confirmed using cellulose acetate membrane electrophoresis (CAME).
STATISTICAL ANALYSIS:
Allele frequency was calculated by direct gene counting method. Average heterozygosity and gene diversity were computed using software DISPAN. Analysis of molecular variance (AMOVA) was estimated using software ARLEQUIN version 3.1.
RESULTS AND CONCLUSIONS:
Pattern of allele frequency distribution showed preponderance of Hp2 allele in all the eight tribal groups, which is in accordance with its frequency in different populations of Indian subcontinent. Total average heterozygosity (HT) was found to be low (0.160) but the level of genetic differentiation (GST) was found to be moderately high (5.6%). AMOVA analysis indicated least among group variance between west and south Indian populations (-0.04%) indicating the affinities of the tribes of Gujarat with that of Dravidian speaking groups. Analysis of Hp phenotypes among sickle cell anemia/ trait individuals revealed a high frequency of Hp 0-0 phenotype (92.7%) among SS individuals as opposed to only 9.7% among AS individuals, reaffirming the selective advantage of HbAS state in relation to hemolytic disorders.
doi:10.4103/0971-6866.92096
PMCID: PMC3276985
PMID: 22345988
AMOVA; haptoglobin; heterozygosity; hypohaptoglobinaemia; sickle cell anemia; tribes.
Thangaraj, Kumarasamy | Chaubey, Gyaneshwer | Kivisild, Toomas | Selvi Rani, Deepa | Singh, Vijay Kumar | Ismail, Thanseem | Carvalho-Silva, Denise | Metspalu, Mait | Bhaskar, L.V.K.S. | Reddy, Alla G. | Chandra, Sarat | Pande, Veena | Naidu, B. Prathap | Adarsh, Niharika | Verma, Abhilasha | Jyothi, Inaganti Amara | Mallick, Chandana Basu | Shrivastava, Nidhi | Devasena, Ragala | Kumari, Babita | Singh, Amit Kumar | Dwivedi, Shailendra Kumar Dhar | Singh, Shefali | Rao, Geeta | Gupta, Pranav | Sonvane, Vartika | Kumari, Kavita | Basha, Afsar | Bhargavi, K.R. | Lalremruata, Albert | Gupta, Arvind Kumar | Kaur, Gurukamal | Reddy, K.K. | Rao, A. Papa | Villems, Richard | Tyler-Smith, Chris | Singh, Lalji
We have analyzed 7,137 samples from 125 different caste, tribal and religious groups of India and 99 samples from three populations of Nepal for the length variation in the COII/tRNALys region of mtDNA. Samples showing length variation were subjected to detailed phylogenetic analysis based on HVS-I and informative coding region sequence variation. The overall frequencies of the 9-bp deletion and insertion variants in South Asia were 1.9 and 0.6%, respectively. We have also defined a novel deep-rooting haplogroup M43 and identified the rare haplogroup H14 in Indian populations carrying the 9-bp deletion by complete mtDNA sequencing. Moreover, we redefined haplogroup M6 and dissected it into two well-defined subclades. The presence of haplogroups F1 and B5a in Uttar Pradesh suggests minor maternal contribution from Southeast Asia to Northern India. The occurrence of haplogroup F1 in the Nepalese sample implies that Nepal might have served as a bridge for the flow of eastern lineages to India. The presence of R6 in the Nepalese, on the other hand, suggests that the gene flow between India and Nepal has been reciprocal.
doi:10.1159/000114160
PMCID: PMC2588665
PMID: 18223312
South Asia; 9bp indel; mtDNA; Haplogroup
Thangaraj, Kumarasamy | Chaubey, Gyaneshwer | SelviRani, Deepa | Singh, Vijay Kumar | Ismail, Thanseem | Carvalho-Silva, Denise | Metspalu, Mait | Bhaskar, LVKS | Reddy, Alla G. | Chandra, Sharat | Pande, Veena | Naidu, Prathap | Adarsh, Niharika | Verma, Abhilasha | Jyothi, Inaganti Amara | Mallick, Chandana Basu | Shrivastava, Nidhi | Devasena, Ragala | Kumari, Babita | Singh, Amit Kumar | Diwedi, Shailendra Kumar Dhar | Singh, Shefali | Rao, Geeta | Gupta, Pranav | Sonvane, Vartika | Kumari, Kavita | Basha, Afsar | Bhargavi, K. R | Lalremruata, Albert | Gupta, Aravind Kumar | Kaur, Gurukamal | Reddy, K. K. | Rao, A. Papa | Villems, Richard | Tyler-Smith, Chris | Singh, Lalji
We have analyzed 7137 samples from 125 different caste, tribal and religious groups of India and 99 samples from three populations of Nepal for the length variation in the COII/tRNALys region of mtDNA. Samples showing length variation were subjected to detailed phylogenetic analysis based on HVS-I and informative coding region sequence variation. The overall frequencies of the 9-bp deletion and insertion variants in South Asia were 1.8% and 0.5%, respectively. We have also defined a novel deep-rooting haplogroup M43 and identified the rare haplogroup H14 in Indian populations carrying the 9bp-deletion by complete mtDNA sequencing. Moreover, we redefined haplogroup M6 and dissected it into two well-defined subclades. The presence of haplogroups F1 and B5a in Uttar Pradesh suggests minor maternal contribution from Southeast Asia to Northern India. The occurrence of haplogroup F1 in the Nepalese sample implies that Nepal might have served as a bridge for the flow of eastern lineages to India. The presence of R6 in the Nepalese, on the other hand, suggests that the gene flow between India and Nepal has been reciprocal.
doi:10.1159/000114160
PMCID: PMC2588665
PMID: 18223312
South Asia; 9bp indel; mtDNA; Haplogroup
Xing, Jinchuan | Watkins, W Scott | Hu, Ya | Huff, Chad D | Sabo, Aniko | Muzny, Donna M | Bamshad, Michael J | Gibbs, Richard A | Jorde, Lynn B | Yu, Fuli
Background
Genetic studies of populations from the Indian subcontinent are of great interest because of India's large population size, complex demographic history, and unique social structure. Despite recent large-scale efforts in discovering human genetic variation, India's vast reservoir of genetic diversity remains largely unexplored.
Results
To analyze an unbiased sample of genetic diversity in India and to investigate human migration history in Eurasia, we resequenced one 100-kb ENCODE region in 92 samples collected from three castes and one tribal group from the state of Andhra Pradesh in south India. Analyses of the four Indian populations, along with eight HapMap populations (692 samples), showed that 30% of all SNPs in the south Indian populations are not seen in HapMap populations. Several Indian populations, such as the Yadava, Mala/Madiga, and Irula, have nucleotide diversity levels as high as those of HapMap African populations. Using unbiased allele-frequency spectra, we investigated the expansion of human populations into Eurasia. The divergence time estimates among the major population groups suggest that Eurasian populations in this study diverged from Africans during the same time frame (approximately 90 to 110 thousand years ago). The divergence among different Eurasian populations occurred more than 40,000 years after their divergence with Africans.
Conclusions
Our results show that Indian populations harbor large amounts of genetic variation that have not been surveyed adequately by public SNP discovery efforts. Our data also support a delayed expansion hypothesis in which an ancestral Eurasian founding population remained isolated long after the out-of-Africa diaspora, before expanding throughout Eurasia.
doi:10.1186/gb-2010-11-11-r113
PMCID: PMC3156952
PMID: 21106085
The issue of errors in genetic data sets is of growing concern, particularly in population genetics where whole genome mtDNA sequence data is coming under increased scrutiny. Multiplexed PCR reactions, combined with SNP typing, are currently under-exploited in this context, but have the potential to genotype whole populations rapidly and accurately, significantly reducing the amount of errors appearing in published data sets. To show the sensitivity of this technique for screening mtDNA genomic sequence data, 20 historic samples of the enigmatic Andaman Islanders and 12 modern samples from three Indian tribal populations (Chenchu, Lambadi and Lodha) were genotyped for 20 coding region sites after provisional haplogroup assignment with control region sequences. The genotype data from the historic samples significantly revise the topologies for the Andaman M31 and M32 mtDNA lineages by rectifying conflicts in published data sets. The new Indian data extend the distribution of the M31a lineage to South Asia, challenging previous interpretations of mtDNA phylogeography. This genetic connection between the ancestors of the Andamanese and South Asian tribal groups ∼30 kya has important implications for the debate concerning migration routes and settlement patterns of humans leaving Africa during the late Pleistocene, and indicates the need for more detailed genotyping strategies. The methodology serves as a low-cost, high-throughput model for the production and authentication of data from modern or ancient DNA, and demonstrates the value of museum collections as important records of human genetic diversity.
doi:10.1371/journal.pone.0000081
PMCID: PMC1766372
PMID: 17218991
Background
Central Asia and the Indian subcontinent represent an area considered as a source and a reservoir for human genetic diversity, with many markers taking root here, most of which are the ancestral state of eastern and western haplogroups, while others are local. Between these two regions, Terai (Nepal) is a pivotal passageway allowing, in different times, multiple population interactions, although because of its highly malarial environment, it was scarcely inhabited until a few decades ago, when malaria was eradicated. One of the oldest and the largest indigenous people of Terai is represented by the malaria resistant Tharus, whose gene pool could still retain traces of ancient complex interactions. Until now, however, investigations on their genetic structure have been scarce mainly identifying East Asian signatures.
Results
High-resolution analyses of mitochondrial-DNA (including 34 complete sequences) and Y-chromosome (67 SNPs and 12 STRs) variations carried out in 173 Tharus (two groups from Central and one from Eastern Terai), and 104 Indians (Hindus from Terai and New Delhi and tribals from Andhra Pradesh) allowed the identification of three principal components: East Asian, West Eurasian and Indian, the last including both local and inter-regional sub-components, at least for the Y chromosome.
Conclusion
Although remarkable quantitative and qualitative differences appear among the various population groups and also between sexes within the same group, many mitochondrial-DNA and Y-chromosome lineages are shared or derived from ancient Indian haplogroups, thus revealing a deep shared ancestry between Tharus and Indians. Interestingly, the local Y-chromosome Indian component observed in the Andhra-Pradesh tribals is present in all Tharu groups, whereas the inter-regional component strongly prevails in the two Hindu samples and other Nepalese populations.
The complete sequencing of mtDNAs from unresolved haplogroups also provided informative markers that greatly improved the mtDNA phylogeny and allowed the identification of ancient relationships between Tharus and Malaysia, the Andaman Islands and Japan as well as between India and North and East Africa. Overall, this study gives a paradigmatic example of the importance of genetic isolates in revealing variants not easily detectable in the general population.
doi:10.1186/1471-2148-9-154
PMCID: PMC2720951
PMID: 19573232
Chaubey, Gyaneshwer | Karmin, Monika | Metspalu, Ene | Metspalu, Mait | Selvi-Rani, Deepa | Singh, Vijay Kumar | Parik, Jüri | Solnik, Anu | Naidu, B Prathap | Kumar, Ajay | Adarsh, Niharika | Mallick, Chandana Basu | Trivedi, Bhargav | Prakash, Swami | Reddy, Ramesh | Shukla, Parul | Bhagat, Sanjana | Verma, Swati | Vasnik, Samiksha | Khan, Imran | Barwa, Anshu | Sahoo, Dipti | Sharma, Archana | Rashid, Mamoon | Chandra, Vishal | Reddy, Alla G | Torroni, Antonio | Foley, Robert A | Thangaraj, Kumarasamy | Singh, Lalji | Kivisild, Toomas | Villems, Richard
Background
Human genetic diversity observed in Indian subcontinent is second only to that of Africa. This implies an early settlement and demographic growth soon after the first 'Out-of-Africa' dispersal of anatomically modern humans in Late Pleistocene. In contrast to this perspective, linguistic diversity in India has been thought to derive from more recent population movements and episodes of contact. With the exception of Dravidian, which origin and relatedness to other language phyla is obscure, all the language families in India can be linked to language families spoken in different regions of Eurasia. Mitochondrial DNA and Y chromosome evidence has supported largely local evolution of the genetic lineages of the majority of Dravidian and Indo-European speaking populations, but there is no consensus yet on the question of whether the Munda (Austro-Asiatic) speaking populations originated in India or derive from a relatively recent migration from further East.
Results
Here, we report the analysis of 35 novel complete mtDNA sequences from India which refine the structure of Indian-specific varieties of haplogroup R. Detailed analysis of haplogroup R7, coupled with a survey of ~12,000 mtDNAs from caste and tribal groups over the entire Indian subcontinent, reveals that one of its more recently derived branches (R7a1), is particularly frequent among Munda-speaking tribal groups. This branch is nested within diverse R7 lineages found among Dravidian and Indo-European speakers of India. We have inferred from this that a subset of Munda-speaking groups have acquired R7 relatively recently. Furthermore, we find that the distribution of R7a1 within the Munda-speakers is largely restricted to one of the sub-branches (Kherwari) of northern Munda languages. This evidence does not support the hypothesis that the Austro-Asiatic speakers are the primary source of the R7 variation. Statistical analyses suggest a significant correlation between genetic variation and geography, rather than between genes and languages.
Conclusion
Our high-resolution phylogeographic study, involving diverse linguistic groups in India, suggests that the high frequency of mtDNA haplogroup R7 among Munda speaking populations of India can be explained best by gene flow from linguistically different populations of Indian subcontinent. The conclusion is based on the observation that among Indo-Europeans, and particularly in Dravidians, the haplogroup is, despite its lower frequency, phylogenetically more divergent, while among the Munda speakers only one sub-clade of R7, i.e. R7a1, can be observed. It is noteworthy that though R7 is autochthonous to India, and arises from the root of hg R, its distribution and phylogeography in India is not uniform. This suggests the more ancient establishment of an autochthonous matrilineal genetic structure, and that isolation in the Pleistocene, lineage loss through drift, and endogamy of prehistoric and historic groups have greatly inhibited genetic homogenization and geographical uniformity.
doi:10.1186/1471-2148-8-227
PMCID: PMC2529308
PMID: 18680585
We report here that, during periodical surveys of insects inhabiting diverse habitats for the collection of entomopathogenic fungi; a large number of isolates were recovered belonging to seven species, from various regions of Madhya Pradesh and Chhattisgarh forest areas and agricultural fields. The most common entomopathogenic fungi such as Beauveria bassiana, Nomuraea rileyi, Paecilomyces farinosus and Paecilomyces fumosoroseus were found to infect various insect hosts species naturally viz. Hyblaea puera, Eutectona machaeralis, Diachrysia orichalcea, Spodoptera litura, and few new insect hosts of these fungal pathogens among Indian insect population were collected for the first time from Central India, such as beetles of Agrilus species, hairy caterpillars of Lymantria species. The isolation, identification, maintenance and pathogenicity assay of these isolates was performed prior to deposition in culture collection center.
doi:10.1007/s12088-010-0007-z
PMCID: PMC3450281
PMID: 23100813
Biodiversity; Central India; Entomopathogenic fungus; Fungal germplasm collection; Invertebrate hosts
Metspalu, Mait | Kivisild, Toomas | Metspalu, Ene | Parik, Jüri | Hudjashov, Georgi | Kaldma, Katrin | Serk, Piia | Karmin, Monika | Behar, Doron M | Gilbert, M Thomas P | Endicott, Phillip | Mastana, Sarabjit | Papiha, Surinder S | Skorecki, Karl | Torroni, Antonio | Villems, Richard
Background
Recent advances in the understanding of the maternal and paternal heritage of south and southwest Asian populations have highlighted their role in the colonization of Eurasia by anatomically modern humans. Further understanding requires a deeper insight into the topology of the branches of the Indian mtDNA phylogenetic tree, which should be contextualized within the phylogeography of the neighboring regional mtDNA variation. Accordingly, we have analyzed mtDNA control and coding region variation in 796 Indian (including both tribal and caste populations from different parts of India) and 436 Iranian mtDNAs. The results were integrated and analyzed together with published data from South, Southeast Asia and West Eurasia.
Results
Four new Indian-specific haplogroup M sub-clades were defined. These, in combination with two previously described haplogroups, encompass approximately one third of the haplogroup M mtDNAs in India. Their phylogeography and spread among different linguistic phyla and social strata was investigated in detail. Furthermore, the analysis of the Iranian mtDNA pool revealed patterns of limited reciprocal gene flow between Iran and the Indian sub-continent and allowed the identification of different assemblies of shared mtDNA sub-clades.
Conclusions
Since the initial peopling of South and West Asia by anatomically modern humans, when this region may well have provided the initial settlers who colonized much of the rest of Eurasia, the gene flow in and out of India of the maternally transmitted mtDNA has been surprisingly limited. Specifically, our analysis of the mtDNA haplogroups, which are shared between Indian and Iranian populations and exhibit coalescence ages corresponding to around the early Upper Paleolithic, indicates that they are present in India largely as Indian-specific sub-lineages. In contrast, other ancient Indian-specific variants of M and R are very rare outside the sub-continent.
doi:10.1186/1471-2156-5-26
PMCID: PMC516768
PMID: 15339343
Malaria control in Madhya Pradesh is complex because of vast tracts of forest with tribal settlement. Fifty four million individuals of various ethnic origins, accounting for 8% of the total population of India, contributed 30% of total malaria cases, 60% of total falciparum cases and 50% of malaria deaths in the country. Ambitious goals to control tribal malaria by launching "Enhanced Malaria Control Project" (EMCP) by the National Vector Borne Disease Control Programme (NVBDCP), with the World Bank assistance, became effective in September 1997 in eight north Indian states. Under EMCP, the programme used a broader mix of new interventions, i.e. insecticide-treated bed nets, spraying houses with effective residual insecticides, use of larvivorous fishes, rapid diagnostic tests for prompt diagnosis, treatment of the sick with effective radical treatment and increased public awareness and IEC. However, the challenge is to scale up these services.
A retrospective analysis of data on malaria morbidity and associated mortality reported under the existing surveillance system of the Madhya Pradesh (Central India) for the years 1996–2007 was carried out to determine the impact of EMCP on malaria morbidity and associated mortality. Analysis revealed that despite the availability of effective intervention tools for the prevention and control of malaria, falciparum malaria remains uncontrolled and deaths due to malaria have increased. Precisely, the aim of this epidemiological analysis is to draw lessons applicable to all international aid efforts, bureaucracy, policy makers and programme managers in assessing its project performance as a new Global Malaria Action Plan is launched with ambitious goal of reducing malaria and its elimination by scaling up the use of existing tools.
doi:10.1186/1475-2875-8-93
PMCID: PMC2687456
PMID: 19419588
Karachanak, Sena | Grugni, Viola | Fornarino, Simona | Nesheva, Desislava | Al-Zahery, Nadia | Battaglia, Vincenza | Carossa, Valeria | Yordanov, Yordan | Torroni, Antonio | Galabov, Angel S. | Toncheva, Draga | Semino, Ornella | Pereira, Luísa Maria Sousa Mesquita
To better define the structure and origin of the Bulgarian paternal gene pool, we have examined the Y-chromosome variation in 808 Bulgarian males. The analysis was performed by high-resolution genotyping of biallelic markers and by analyzing the STR variation within the most informative haplogroups. We found that the Y-chromosome gene pool in modern Bulgarians is primarily represented by Western Eurasian haplogroups with ∼ 40% belonging to haplogroups E-V13 and I-M423, and 20% to R-M17. Haplogroups common in the Middle East (J and G) and in South Western Asia (R-L23*) occur at frequencies of 19% and 5%, respectively. Haplogroups C, N and Q, distinctive for Altaic and Central Asian Turkic-speaking populations, occur at the negligible frequency of only 1.5%. Principal Component analyses group Bulgarians with European populations, apart from Central Asian Turkic-speaking groups and South Western Asia populations. Within the country, the genetic variation is structured in Western, Central and Eastern Bulgaria indicating that the Balkan Mountains have been permeable to human movements. The lineage analysis provided the following interesting results: (i) R-L23* is present in Eastern Bulgaria since the post glacial period; (ii) haplogroup E-V13 has a Mesolithic age in Bulgaria from where it expanded after the arrival of farming; (iii) haplogroup J-M241 probably reflects the Neolithic westward expansion of farmers from the earliest sites along the Black Sea. On the whole, in light of the most recent historical studies, which indicate a substantial proto-Bulgarian input to the contemporary Bulgarian people, our data suggest that a common paternal ancestry between the proto-Bulgarians and the Altaic and Central Asian Turkic-speaking populations either did not exist or was negligible.
doi:10.1371/journal.pone.0056779
PMCID: PMC3590186
PMID: 23483890
Genetic affinities between aboriginal Taiwanese and populations from Oceania and Southeast Asia have previously been explored through analyses of mitochondrial DNA (mtDNA), Y chromosomal DNA, and human leukocyte antigen loci. Recent genetic studies have supported the “slow boat” and “entangled bank” models according to which the Polynesian migration can be seen as an expansion from Melanesia without any major direct genetic thread leading back to its initiation from Taiwan. We assessed mtDNA variation in 640 individuals from nine tribes of the central mountain ranges and east coast regions of Taiwan. In contrast to the Han populations, the tribes showed a low frequency of haplogroups D4 and G, and an absence of haplogroups A, C, Z, M9, and M10. Also, more than 85% of the maternal lineages were nested within haplogroups B4, B5a, F1a, F3b, E, and M7. Although indicating a common origin of the populations of insular Southeast Asia and Oceania, most mtDNA lineages in Taiwanese aboriginal populations are grouped separately from those found in China and the Taiwan general (Han) population, suggesting a prevalence in the Taiwanese aboriginal gene pool of its initial late Pleistocene settlers. Interestingly, from complete mtDNA sequencing information, most B4a lineages were associated with three coding region substitutions, defining a new subclade, B4a1a, that endorses the origin of Polynesian migration from Taiwan. Coalescence times of B4a1a were 13.2 ± 3.8 thousand years (or 9.3 ± 2.5 thousand years in Papuans and Polynesians). Considering the lack of a common specific Y chromosomal element shared by the Taiwanese aboriginals and Polynesians, the mtDNA evidence provided here is also consistent with the suggestion that the proto-Oceanic societies would have been mainly matrilocal.
An extensive phylogenetic analysis of mtDNA from nine Taiwanese tribes reveals an unambiguous genetic link between aboriginal Taiwanese and Polynesian populations, to the exclusion of mainland Asians.
doi:10.1371/journal.pbio.0030247
PMCID: PMC1166350
PMID: 15984912
Chandrasekar, Adimoolam | Kumar, Satish | Sreenath, Jwalapuram | Sarkar, Bishwa Nath | Urade, Bhaskar Pralhad | Mallick, Sujit | Bandopadhyay, Syam Sundar | Barua, Pinuma | Barik, Subihra Sankar | Basu, Debasish | Kiran, Uttaravalli | Gangopadhyay, Prodyot | Sahani, Ramesh | Prasad, Bhagavatula Venkata Ravi | Gangopadhyay, Shampa | Lakshmi, Gandikota Rama | Ravuri, Rajasekhara Reddy | Padmaja, Koneru | Venugopal, Pulamaghatta N. | Sharma, Madhu Bala | Rao, Vadlamudi Raghavendra | Quintana-Murci, Lluis
To construct maternal phylogeny and prehistoric dispersals of modern human being in the Indian sub continent, a diverse subset of 641 complete mitochondrial DNA (mtDNA) genomes belonging to macrohaplogroup M was chosen from a total collection of 2,783 control-region sequences, sampled from 26 selected tribal populations of India. On the basis of complete mtDNA sequencing, we identified 12 new haplogroups - M53 to M64; redefined/ascertained and characterized haplogroups M2, M3, M4, M5, M6, M8′C′Z, M9, M10, M11, M12-G, D, M18, M30, M33, M35, M37, M38, M39, M40, M41, M43, M45 and M49, which were previously described by control and/or coding-region polymorphisms. Our results indicate that the mtDNA lineages reported in the present study (except East Asian lineages M8′C′Z, M9, M10, M11, M12-G, D ) are restricted to Indian region.The deep rooted lineages of macrohaplogroup ‘M’ suggest in-situ origin of these haplogroups in India. Most of these deep rooting lineages are represented by multiple ethnic/linguist groups of India. Hierarchical analysis of molecular variation (AMOVA) shows substantial subdivisions among the tribes of India (Fst = 0.16164). The current Indian mtDNA gene pool was shaped by the initial settlers and was galvanized by minor events of gene flow from the east and west to the restricted zones. Northeast Indian mtDNA pool harbors region specific lineages, other Indian lineages and East Asian lineages. We also suggest the establishment of an East Asian gene in North East India through admixture rather than replacement.
doi:10.1371/journal.pone.0007447
PMCID: PMC2757894
PMID: 19823670
Kazakh populations have traditionally lived as nomadic pastoralists that seasonally migrate across the steppe and surrounding mountain ranges in Kazakhstan and southern Siberia. To clarify their population history from a paternal perspective, we analyzed the non-recombining portion of the Y-chromosome from Kazakh populations living in southern Altai Republic, Russia, using a high-resolution analysis of 60 biallelic markers and 17 STRs. We noted distinct differences in the patterns of genetic variation between maternal and paternal genetic systems in the Altaian Kazakhs. While they possess a variety of East and West Eurasian mtDNA haplogroups, only three East Eurasian paternal haplogroups appear at significant frequencies (C3*, C3c and O3a3c*). In addition, the Y-STR data revealed low genetic diversity within these lineages. Analysis of the combined biallelic and STR data also demonstrated genetic differences among Kazakh populations from across Central Asia. The observed differences between Altaian Kazakhs and indigenous Kazakhs were not the result of admixture between Altaian Kazakhs and indigenous Altaians. Overall, the shared paternal ancestry of Kazakhs differentiates them from other Central Asian populations. In addition, all of them showed evidence of genetic influence by the 13th century CE Mongol Empire. Ultimately, the social and cultural traditions of the Kazakhs shaped their current pattern of genetic variation.
doi:10.1371/journal.pone.0017548
PMCID: PMC3055870
PMID: 21412412
The present study was carried out in the Sahariya tribe of Central India, which reportedly have high prevalence of pulmonary tuberculosis. Total serum LDH and its tissue specific isoforms were estimated in TB patients and matched healthy controls to test the utility of LDH as diagnostic marker for tuberculosis. About 210 sputum positive cases and 328 age and sex matched sputum negative controls were recruited. The spectrophotometeric and densitometric analysis of each LDH isoform was carried out in both cases and controls. The mean values of serum LDH were estimated and compared for each class by t-test. The statistical comparisons were made between sputum negative controls and sputum positive cases by Mann-Whitney’s U test. The spectrophotometric estimation of serum LDH revealed significant (P=0.0016) increase in its level in cases (290 IU/L) as compared to controls (248 IU/L). The densitometric analysis of individual LDH isoforms in cases and controls demonstrated significant elevation in LDH1 (P>0.05), LDH2 (P>0.05) and LDH3 (P<0.005) in sputum positive cases in comparison to sputum negative controls. Our study revealed a positive correlation between serum LDH level and the presence of mycobacteria and their load, suggesting utility of LDH as an important diagnostic marker of tuberculosis induced stress, at least in tribal areas lacking access to modern clinical tests.
doi:10.1007/s12291-010-0012-3
PMCID: PMC3453013
PMID: 23105885
LDH isoforms; Tuberculosis; Sahariya tribe; Acid Fast Bacilli
Background
Y-chromosomal haplogroup (Y-HG) Q is suggested to originate in Asia and represent recent founder paternal Native American radiation into the Americas. This group is delineated into Q1, Q2 and Q3 subgroups defined by biallelic markers M120, M25/M143 and M3, respectively. Recently, a novel subgroup Q4 has been identified which is defined by bi-allelic marker M346, representing HG Q (0.41%, 3/728) in Indian population. With scanty details of HG Q in Asia, especially India, it was pertinent to explore the status of the Y-HG Q in Indian population to gather an insight to determine the extent of diversity within this region.
Results
We observed 15/630 (2.38%) Y-HG Q individuals in India with an ancestral state at M120, M25, M3 and M346 markers, indicating an absence of already known Q1, Q2, Q3 and Q4 sub-haplogroups. Interestingly, we further observed a novel 4 bp deletion/insertion polymorphism (ss4 bp, rs41352448) at 72,314 position of human arylsulfatase D pseudogene, defining a novel sub-lineage Q5 (in 5/15 individuals, i.e., 33.3 % of the observed Y-HG Q) with distributions independent of the social, cultural, linguistic and geographical affiliations in India.
Conclusion
The study adds another sublineage Q5 in the already existing arrangement of Y-HG Q in literature. It was quite interesting to observe an ancestral state Q* and a novel sub-branch Q5, not reported elsewhere, in Indian subcontinent, though in low frequency. A novel subgroup Q4 was identified recently which is also restricted to Indian subcontinent. The most plausible explanation for these observations could be an ancestral migration of individuals bearing ancestral lineage Q* to Indian subcontinent followed by an autochthonous differentiation to Q4 and Q5 sublineages later on. However, other explanations of, either the presence of both the sub haplogroups (Q4 and Q5) in ancestral migrants or recent migrations from central Asia, cannot be ruled out till the distribution and diversity of these subgroups is explored extensively in Central Asia and other regions.
doi:10.1186/1471-2148-7-232
PMCID: PMC2258157
PMID: 18021436