Browsing by Author "Deepa Selvi Rani"

Now showing 1 - 7 of 7

Genetic affinities of the central Indian tribal populations
(2012) Gunjan Sharma; Rakesh Tamang; Ruchira Chaudhary; Vipin Kumar Singh; Anish M. Shah; Sharath Anugula; Deepa Selvi Rani; Alla G. Reddy; Muthukrishnan Eaaswarkhanth; Gyaneshwer Chaubey; Lalji Singh; Kumarasamy Thangaraj
Background: The central Indian state Madhya Pradesh is often called as 'heart of India' and has always been an important region functioning as a trinexus belt for three major language families (Indo-European, Dravidian and Austroasiatic). There are less detailed genetic studies on the populations inhabited in this region. Therefore, this study is an attempt for extensive characterization of genetic ancestries of three tribal populations, namely; Bharia, Bhil and Sahariya, inhabiting this region using haploid and diploid DNA markers. Methodology/Principal Findings: Mitochondrial DNA analysis showed high diversity, including some of the older sublineages of M haplogroup and prominent R lineages in all the three tribes. Y-chromosomal biallelic markers revealed high frequency of Austroasiatic-specific M95-O2a haplogroup in Bharia and Sahariya, M82-H1a in Bhil and M17-R1a in Bhil and Sahariya. The results obtained by haploid as well as diploid genetic markers revealed strong genetic affinity of Bharia (a Dravidian speaking tribe) with the Austroasiatic (Munda) group. The gene flow from Austroasiatic group is further confirmed by their Y-STRs haplotype sharing analysis, where we determined their founder haplotype from the North Munda speaking tribe, while, autosomal analysis was largely in concordant with the haploid DNA results. Conclusions/Significance: Bhil exhibited largely Indo-European specific ancestry, while Sahariya and Bharia showed admixed genetic package of Indo-European and Austroasiatic populations. Hence, in a landscape like India, linguistic label doesn't unequivocally follow the genetic footprints. © 2012 Sharma et al.
Genetic and functional evaluation of the role of DLL1 in susceptibility to visceral leishmaniasis in India
(2012) Sanjana Mehrotra; Michaela Fakiola; Anshuman Mishra; Medhavi Sudarshan; Puja Tiwary; Deepa Selvi Rani; Kumarasamy Thangaraj; Madhukar Rai; Shyam Sundar; Jenefer M. Blackwell
Chromosome 6q26-27 is linked to susceptibility to visceral leishmaniasis (VL) in Brazil and Sudan. DLL1 encoding the Delta-like 1 ligand for Notch 3 was implicated as the etiological gene. DLL1 belongs to the family of Notch ligands known to selectively drive antigen-specific CD4 T helper 1 cell responses, which are important in protective immune response in leishmaniasis. Here we provide further genetic and functional evidence that supports a role for DLL1 in a well-powered population-based study centred in the largest global focus of VL in India. Twenty-one single nucleotide polymorphisms (SNPs) at . PHF10/C6orf70/DLL1. /FAM120B/PSMB1/TBP were genotyped in 941 cases and 992 controls. Logistic regression analysis under an additive model showed association between VL and variants at DLL1 and . FAM120B, with top associations (rs9460106, OR. =. 1.17, 95%CI 1.01-1.35, . P=. 0.033; rs2103816, OR. =. 1.16, 95%CI 1.01-1.34, . P=. 0.039) robust to analysis using caste as a covariate to take account of population substructure. Haplotype analysis taking population substructure into account identified a common 2-SNP risk haplotype (frequency 0.43; . P=. 0.028) at . FAM120B, while the most significant protective haplotype (frequency 0.18; . P=. 0.007) was a 5-SNP haplotype across the interval 5' of both DLL1 (negative strand) and . FAM120B (positive strand) and extending to intron 4 of DLL1. Quantitative RT/PCR was used to compare expression of 6q27 genes in paired pre- and post-treatment splenic aspirates from VL patients (. N=. 19). DLL1 was the only gene to show differential expression that was higher (. P<. 0.0001) in pre- compared to post-treatment samples, suggesting that regulation of gene expression was important in disease pathogenesis. This well-powered genetic and functional study in an Indian population provides evidence supporting DLL1 as the etiological gene contributing to susceptibility to VL at Chromosome 6q27, confirming the potential for polymorphism at DLL1 to act as a genetic risk factor across the epidemiological divides of geography and parasite species. © 2012 .
Genetic Structure of Tibeto-Burman Populations of Bangladesh: Evaluating the Gene Flow along the Sides of Bay-of-Bengal
(2013) Nurun Nahar Gazi; Rakesh Tamang; Vipin Kumar Singh; Ahmed Ferdous; Ajai Kumar Pathak; Mugdha Singh; Sharath Anugula; Pandichelvam Veeraiah; Subburaj Kadarkaraisamy; Brijesh Kumar Yadav; Alla G. Reddy; Deepa Selvi Rani; Syed Saleheen Qadri; Lalji Singh; Gyaneshwer Chaubey; Kumarasamy Thangaraj
Human settlement and migrations along sides of Bay-of-Bengal have played a vital role in shaping the genetic landscape of Bangladesh, Eastern India and Southeast Asia. Bangladesh and Northeast India form the vital land bridge between the South and Southeast Asia. To reconstruct the population history of this region and to see whether this diverse region geographically acted as a corridor or barrier for human interaction between South Asia and Southeast Asia, we, for the first time analyzed high resolution uniparental (mtDNA and Y chromosome) and biparental autosomal genetic markers among aboriginal Bangladesh tribes currently speaking Tibeto-Burman language. All the three studied populations; Chakma, Marma and Tripura from Bangladesh showed strikingly high homogeneity among themselves and strong affinities to Northeast Indian Tibeto-Burman groups. However, they show substantially higher molecular diversity than Northeast Indian populations. Unlike Austroasiatic (Munda) speakers of India, we observed equal role of both males and females in shaping the Tibeto-Burman expansion in Southern Asia. Moreover, it is noteworthy that in admixture proportion, TB populations of Bangladesh carry substantially higher mainland Indian ancestry component than Northeast Indian Tibeto-Burmans. Largely similar expansion ages of two major paternal haplogroups (O2a and O3a3c), suggested that they arose before the differentiation of any language group and approximately at the same time. Contrary to the scenario proposed for colonization of Northeast India as male founder effect that occurred within the past 4,000 years, we suggest a significantly deep colonization of this region. Overall, our extensive analysis revealed that the population history of South Asian Tibeto-Burman speakers is more complex than it was suggested before. © 2013 Gazi et al.
High frequencies of Non Allelic Homologous Recombination (NAHR) events at the AZF loci and male infertility risk in Indian men
(Nature Publishing Group, 2019) Deepa Selvi Rani; Singh Rajender; Kadupu Pavani; Gyaneshwer Chaubey; Avinash A. Rasalkar; Nalini J. Gupta; Mamta Deendayal; Baidyanath Chakravarty; Kumarasamy Thangaraj
Deletions in the AZoospermia Factor (AZF) regions (spermatogenesis loci) on the human Y chromosome are reported as one of the most common causes of severe testiculopathy and spermatogenic defects leading to male infertility, yet not much data is available for Indian infertile men. Therefore, we screened for AZF region deletions in 973 infertile men consisting of 771 azoospermia, 105 oligozoospermia and 97 oligoteratozoospermia cases, along with 587 fertile normozoospermic men. The deletion screening was carried out using AZF-specific markers: STSs (Sequence Tagged Sites), SNVs (Single Nucleotide Variations), PCR-RFLP (Polymerase Chain Reaction - Restriction Fragment Length Polymorphism) analysis of STS amplicons, DNA sequencing and Southern hybridization techniques. Our study revealed deletion events in a total of 29.4% of infertile Indian men. Of these, non-allelic homologous recombination (NAHR) events accounted for 25.8%, which included 3.5% AZFb deletions, 2.3% AZFbc deletions, 6.9% complete AZFc deletions, and 13.1% partial AZFc deletions. We observed 3.2% AZFa deletions and a rare long AZFabc region deletion in 0.5% azoospermic men. This study illustrates how the ethnicity, endogamy and long-time geographical isolation of Indian populations might have played a major role in the high frequencies of deletion events. © 2019, The Author(s).
Reconstructing the demographic history of the Himalayan and adjoining populations
(Springer Verlag, 2018) Rakesh Tamang; Gyaneshwer Chaubey; Amrita Nandan; Periyasamy Govindaraj; Vipin Kumar Singh; Niraj Rai; Chandana Basu Mallick; Vishwas Sharma; Varun Kumar Sharma; Anish M. Shah; Albert Lalremruata; Alla G. Reddy; Deepa Selvi Rani; Pilot Doviah; Neetu Negi; Yarin Hadid; Veena Pande; Satti Vishnupriya; George van Driem; Doron M. Behar; Tikaram Sharma; Lalji Singh; Richard Villems; Kumarasamy Thangaraj
The rugged topography of the Himalayan region has hindered large-scale human migrations, population admixture and assimilation. Such complexity in geographical structure might have facilitated the existence of several small isolated communities in this region. We have genotyped about 850,000 autosomal markers among 35 individuals belonging to the four major populations inhabiting the Himalaya and adjoining regions. In addition, we have genotyped 794 individuals belonging to 16 ethnic groups from the same region, for uniparental (mitochondrial and Y chromosomal DNA) markers. Our results in the light of various statistical analyses suggest a closer link of the Himalayan and adjoining populations to East Asia than their immediate geographical neighbours in South Asia. Allele frequency-based analyses likely support the existence of a specific ancestry component in the Himalayan and adjoining populations. The admixture time estimate suggests a recent westward migration of populations living to the East of the Himalaya. Furthermore, the uniparental marker analysis among the Himalayan and adjoining populations reveal the presence of East, Southeast and South Asian genetic signatures. Interestingly, we observed an antagonistic association of Y chromosomal haplogroups O3 and D clines with the longitudinal distance. Thus, we summarise that studying the Himalayan and adjoining populations is essential for a comprehensive reconstruction of the human evolutionary and ethnolinguistic history of eastern Eurasia. © 2018, Springer-Verlag GmbH Germany, part of Springer Nature.
The Phylogeography of Y-Chromosome Haplogroup H1a1a-M82 Reveals the Likely Indian Origin of the European Romani Populations
(2012) Niraj Rai; Gyaneshwer Chaubey; Rakesh Tamang; Ajai Kumar Pathak; Vipin Kumar Singh; Monika Karmin; Manvendra Singh; Deepa Selvi Rani; Sharath Anugula; Brijesh Kumar Yadav; Ashish Singh; Ramkumar Srinivasagan; Anita Yadav; Manju Kashyap; Sapna Narvariya; Alla G. Reddy; George van Driem; Peter A. Underhill; Richard Villems; Toomas Kivisild; Lalji Singh; Kumarasamy Thangaraj
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. © 2012 Rai et al.
Unravelling the distinct strains of Tharu ancestry
(Nature Publishing Group, 2014) Gyaneshwer Chaubey; Manvendra Singh; Federica Crivellaro; Rakesh Tamang; Amrita Nandan; Kamayani Singh; Varun Kumar Sharma; Ajai Kumar Pathak; Anish M. Shah; Vishwas Sharma; Vipin Kumar Singh; Deepa Selvi Rani; Niraj Rai; Alena Kushniarevich; Anne-Mai Ilumäe; Monika Karmin; Anand Phillip; Abhilasha Verma; Erik Prank; Vijay Kumar Singh; Blaise Li; Periyasamy Govindaraj; Akhilesh Kumar Chaubey; Pavan Kumar Dubey; Alla G. Reddy; Kumpati Premkumar; Satti Vishnupriya; Veena Pande; Jüri Parik; Siiri Rootsi; Phillip Endicott; Mait Metspalu; Marta Mirazon Lahr; George Van Driem; Richard Villems; Toomas Kivisild; Lalji Singh; Kumarasamy Thangaraj
The northern region of the Indian subcontinent is a vast landscape interlaced by diverse ecologies, for example, the Gangetic Plain and the Himalayas. A great number of ethnic groups are found there, displaying a multitude of languages and cultures. The Tharu is one of the largest and most linguistically diverse of such groups, scattered across the Tarai region of Nepal and bordering Indian states. Their origins are uncertain. Hypotheses have been advanced postulating shared ancestry with Austroasiatic, or Tibeto-Burman-speaking populations as well as aboriginal roots in the Tarai. Several Tharu groups speak a variety of Indo-Aryan languages, but have traditionally been described by ethnographers as representing East Asian phenotype. Their ancestry and intra-population diversity has previously been tested only for haploid (mitochondrial DNA and Y-chromosome) markers in a small portion of the population. This study presents the first systematic genetic survey of the Tharu from both Nepal and two Indian states of Uttarakhand and Uttar Pradesh, using genome-wide SNPs and haploid markers. We show that the Tharu have dual genetic ancestry as up to one-half of their gene pool is of East Asian origin. Within the South Asian proportion of the Tharu genetic ancestry, we see vestiges of their common origin in the north of the South Asian Subcontinent manifested by mitochondrial DNA haplogroup M43. © 2014 Macmillan Publishers Limited All rights reserved.