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Research Interests

Our major research interest has been in the field of human origin, health and disease. We are interested in understand the complex origin and affinities of Indian populations, using the genomics variations of contemporary populations and ancient biological remains. We are also interested in understanding the impact of endogamy on health and disease of South Asians. Our other research focus is to find the molecular basis of; male infertility, cardiovascular diseases, sex determination, and mitochondrial disorders. Some of our most significant contributions in the above field are as follows:

We discovered that the enigmatic tribal populations of Andaman Islands are the first modern humans who migrated out of Africa through southern coastal route about 65,000 years ago (Science, 2005). Subsequently, we found that the present-day Indian populations descend from two diverse groups; namely, Ancestral South Indians (ASI) and Ancestral North Indians (ANI) (Nature, 2009). Further, we found that the ASI and ANI have admixed during the past 2000 - 4000 years (American Journal of Human Genetics, 2013); followed by strict endogamy leading to population-specific recessive disease, due to founder events (Nature Genetics, 2017).

Selected Publications

Shinde V, Narasimhan VM, Rohland N, Mallick S, Mah M, Lipson M, Nakatsuka N, Adamski N, Broomandkhoshbacht N, Ferry M, Lawson AM, Michel M, Oppenheimer J, Stewardson K, Jadhav N, Kim YJ, Chatterjee M, Munshi A, Panyam A, Waghmare P, Yadav Y, Patel H, Kaushik A, Thangaraj K, Meyer M, Patterson N, Rai N, Reich D (2019) An Ancient Harappan Genome Lacks Ancestry from Steppe Pastoralists or Iranian Farmers. Cell. 179:729-735. (accompanied with Preview by Maanasa Raghavan, Hannes Schroeder, Anna-Sapfo Malaspina)

Nakatsuka N, Moorjani P, Rai N, Sarkar B, Tandon A, Patterson N, Bhavani GS, Girisha KM, Mustak MS, Srinivasan S, Kaushik A, Vahab SA, Jagadeesh SM, Satyamoorthy K, Singh L, Reich D, Thangaraj K (2017) The promise of discovering population-specific disease-associated genes in South Asia. Nature Genetics. 49: 1403-1407. (accompanied with coverpage and Editorial)

Reich D*, Thangaraj K*, Patterson N*, Price AL*, Singh L (2009) Reconstructing Indian Population History. Nature. 461: 489-494. (*equal first authors) (accompanied with coverpage and News & Views by Aravinda Chakravarty)

Dhandapany PS, Sadayappan S, Xue Y, Powell GT, Rani DS, Nallari P, Rai TS, Khullar M, Soares P, Bahl A, Tharkan JM, Vaideeswar P, Rathinavel A, Narasimhan C, Ayapati DR, Ayub Q, Mehdi SQ, Oppenheimer S, Richards M, Price A, Patterson N, Reich D, Singh L, Tyler-Smith C, Thangaraj K (2009) A common MYBPC3 (Cardiac Myosin Binding Protein C) variant associated with cardiomyopathies in South Asia. Nature Genetics. 41 187-191.

Thangaraj K, Chaubey G, Kivisild T, Reddy AG, Singh VK, Rasalkar AA, Singh L (2005) Reconstructing the origin of the Andaman Islanders. Science 308: 996. (accompanied with Perspectives by Peter Foster and Shuichi Matsumura)

 

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Publications

TitleJournalYear
Ancient mtDNA from the extinct Indian cheetah supports unexpectedly deep divergence from African cheetahs Sci Rep. 10:4618 2020
Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures J Mol Neurosci. 2020 Jun 2. doi: 10.1007/s12031-020-01595-8. 2020
Mitochondrial diversity of Yoruba and Fulani chickens: A biodiversity reservoir in Nigeria Poult Sci. 99:2852-2860 2020
Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India Clin Rheumatol. Mar 24. doi: 10.1007/s10067-020-05020-8 [Epub ahead of print] 2020
Novel NR5A1 Pathogenic Variants Cause Phenotypic Heterogeneity in 46,XY Disorders of Sex Development Sex Dev. Feb 1. [Epub ahead of print]. 2020
Peopling of India: Ancient DNA perspectives J Biosci. 44. pii: 70 2019
High frequencies of Non Allelic Homologous Recombination (NAHR) events at the AZF loci and male infertility risk in Indian men Sci Rep. 9:6276 2019
Mitochondrial genome variations in idiopathic dilated cardiomyopathy Mitochondrion. 48 51-59 2019
Retinoblastoma discordance in families with twins Ind J Ophthalmol 2019
Variations in macrophage migration inhibitory factor gene are not associated with visceral leishmaniasis in India J Infect Public Health. 12:380 2019
A Complete Absence of Missense Mutation in Myosin Regulatory and Essential Light Chain Genes of South Indian Hypertrophic and Dilated Cardiomyopathies Cardiology 141:156-166 2019
SNPs in ERCC1, ERCC2, and XRCC1 genes of the DNA repair pathway and risk of male infertility in the Asian populations: association study, meta-analysis, and trial sequential analysis J Assist Reprod Genet. 36: 79-90 2019
The peopling of Lakshadweep Archipelago Sci Rep. 9: 6968 2019
Homozygous R627W mutations in POLG cause mitochondrial DNA depletion leading to encephalopathy, seizures and stroke-like episodes Mitochondrion. 48:78-83 2019
Ancient DNA from the skeletons of Roopkund Lake reveals Mediterranean migrants in India Nat Commun. 10:3670. 2019
The formation of human populations in South and Central Asia Science. 365(6457). pii: eaat7487 2019
An Ancient Harappan Genome Lacks Ancestry from Steppe Pastoralists or Iranian Farmers Cell. 179:729-735 2019
The influences of genes, the environment, and social factors on the evolution of skin color diversity in India Am J Hum Biol. 30:e23170; 1-15 2018
Mitochondria in health and disease Mitochondrion 43: 25-29. 2018
Reconstructing the demographic history of the Himalayan and adjoining populations Hum Genet. 137:129-139. 2018
Author Response: Penetrance of the LHON Mutation m.11778G>A May Depend on Factors Other Than Haplotype or Heteroplasmy Rate Invest Ophthalmol Vis Sci. 59:382 2018
Outcome of epilepsy in patients with mitochondrial disorders: Phenotype genotype and magnetic resonance imaging correlations Clin Neurol Neurosurg. 164:182-189 2018
NR5A1 mutations are not associated with male infertility in Indian men Andrologia 50: e12931 2018
Mutations in the prostate specific antigen (PSA/KLK3) correlate with male infertility Sci. Rep. 7:11225 2017
Leber's Hereditary Optic Neuropathy-Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India Invest. Ophthalmol. Vis. Sci. 58: 3923-3930 2017
Mitochondrial oxidative phosphorylation disorders in children: Phenotypic, genotypic and biochemical correlations in 85 patients from South India. Mitochondrion 32:42-49. 2017
Genotype-Phenotype Study of the Middle Gangetic Plain in India Shows Association of rs2470102 with Skin Pigmentation. J Invest Dermatol. 137:670-677. 2017
Reconstructing the population history of the largest tribe of India: the Dravidian speaking Gond. Eur J Hum Genet. 25:493-498. 2017
Ancient DNA Reveals Late Pleistocene Existence of Ostriches in Indian Sub-Continent. PLoS One. 12:e0164823. 2017
Origin and spread of human mitochondrial DNA haplogroup U7. Sci Rep; 7:46044. 2017
3`-UTR SNP rs2229611 in G6PC1 affects mRNA stability, expression and Glycogen Storage Disease type-Ia risk. Clin Chim Acta. 471:46-54. 2017
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease. Neurol Genet. 2017 3(3):e149. 2017
Geographical distribution of complement receptor type 1 variants and their associated disease risk. PLoS One. 2017 12(5):e0175973. 2017
&sdquo;Like sugar in milk&sdquo: reconstructing the genetic history of the Parsi population. Genome Biol. 18:110. 2017
MPV17 hepatocerebral mitochondrial DNA depletion syndrome presenting as acute flaccid paralysis - A case report. Mitochondrion. Jun 30. doi: 10.1016/j.mito.2017.06.006. [Epub ahead of print]. 2017
The promise of discovering population-specific disease-associated genes in South Asia. Nat Genet. Jul 17. doi: 10.1038/ng.3917. [Epub ahead of print]. 2017
Clinical, cytogenetic and molecular analysis of androgen insensitivity syndromes from south Indian cohort and detection and in-silico characterization of androgen receptor gene mutations. ClinChimActa.453:123-30. 2016
Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging. Mitochondrion. 26:81-85. 2016
Dissecting the influence of Neolithic demic diffusion on Indian Y-chromosome pool through J2-M172 haplogroup. Sci Rep. 6:19157 2016
Genetic affinities of the Jewish populations of India. Sci Rep. 6:19166 2016
Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India. Mitochondrion. 27:1-5 2016
Is MTHFR 677 C>T Polymorphism Clinically Important in Polycystic Ovarian Syndrome (PCOS)? A Case-Control Study, Meta-Analysis and Trial Sequential Analysis. PLoS One. 11(3):e0151510. 2016
Reply to `Lack of replication of association of THSD7A with obesity` Int J Obes (Lond). Feb 2. doi: 10.1038 2016
Optimization of purification method and characterization of recombinant human Centrin-1. Protein Expr. Purif. 124: 48-54. 2016
Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India. Sci Rep. 6: 27684. 2016
Audiological manifestations in mitochondrial encephalomyopathy lactic acidosis and stroke like episodes (MELAS) syndrome. Clin Neurol Neurosurg. 148: 17-21 2016
Cryptic Eimeria genotypes are common across the southern but not northern hemisphere. Int J Parasitol. Jun 28 2016
The Simons Genome Diversity Project: 300 genomes from 142 diverse populations. Nature. 538: 201-206 2016
c.*84G>A Mutation in CETP Is Associated with Coronary Artery Disease in South Indians. PLoS One. 11:e0164151. 2016
Coexistence of Digenic Mutations in Both Thin (TPM1) and Thick (MYH7) Filaments of Sarcomeric Genes Leads to Severe Hypertrophic Cardiomyopathy in a South Indian FHCM. DNA Cell Biol. Jan 21 2015
SRD5A2 Gene Polymorphisms and the Risk of Benign Prostatic Hyperplasia but not Prostate Cancer. Asian Pac J Cancer Prev. 16: 1033-1036 2015
M235T Polymorphism in the AGT Gene and A/G Substitution in the REN Gene Correlate with End-Stage Renal Disease. Nephron. 129:104-108 2015
c. 620C> T mutation in GATA4 is associated with congenital heart disease in South India BMC Med. Genet. 16 (1): 7 2015
Mechanistic Heterogeneity in Contractile Properties of ?-Tropomyosin (TPM1) Mutants Associated with Inherited Cardiomyopathies. J Biol Chem. 290: 7003-7015 2015
MTHFR 677C>T Polymorphism and the Risk of Breast Cancer: Evidence from an Original Study and Pooled Data for 28031 Cases and 31880 Controls. PLoS One. 10:e0120654. 2015
Mitochondrial disorders: Challenges in diagnosis & treatment. Indian J Med Res. 141:13-26 2015
IL10 Variant g.5311A Is Associated with Visceral Leishmaniasis in Indian Population. PLoS One. 10:e0124559 2015
DNA methylation analysis of phenotype specific stratified Indian population. J Transl Med. 13:151 2015
Association of Ficolin-2 Serum Levels and FCN2 Genetic Variants with Indian Visceral Leishmaniasis. PLoS One. 10:e0125940. 2015
Clinical and Neuroimaging Features in Two Children with Mutations in the Mitochondrial ND5 Gene. Neuropediatrics. May 14. 2015
Propagation of pure fetal and maternal mesenchymal stromal cells from terminal chorionic villi of human term placenta. Nat. Sci Rep. 5:10054. 2015
Correlation of Interleukin-6 levels and lectins during Schistosoma haematobium infection. Cytokine. May 14 [Epub ahead of print] 2015
Mitochondrial Biology: From Molecules to Disease Symposium Mitochondrion. Jul 22 [Epub ahead of print] 2015
A novel gene THSD7A is associated with obesity Int J Obes. Aug 4. [Epub ahead of print] 2015
Mannose-binding Lectin (MBL) as a susceptible host factor influencing Indian Visceral Leishmaniasis. Parasitol Int. 64:591-596 2015
Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: A study from south India Mitochondrion. Sep. 1 [Epub ahead of print] 2015
Population, genetic, and antigenic diversity of the apicomplexan Eimeria tenella and their relevance to vaccine development. Proc Natl Acad Sci (U S A), Sep 9 [Epub ahead of print] 2015
Mutational analysis of SCN5A gene in long QT syndrome. Meta Gene. 6:26-35. 2015
The paternal ancestry of Uttarakhand does not imitate the classical caste system of India. J Hum Genet. Oct 29. 2015
Genome-wide analysis correlates Ayurveda Prakriti. Sci Rep. 5:15786. 2015
Genome-wide analysis correlates Ayurveda Prakriti. Sci Rep. 5:15786. 2015
Heat shock protein 70 gene polymorphisms' influence on the electrophysiology of long QT syndrome. J Interv Card Electrophysiol. Dec 16 2015 2015
MBL2 variations and malaria susceptibility in Indian populations. Infect Immun. 82:52-61 2014
Relic excavated in western India is probably of Georgian Queen Ketevan. Mitochondrion. 14:1-6 2014
A novel insertion-induced frameshift mutation of the androgen receptor gene in a patient with primary amenorrhea Meta Gene 2, 11-15 2014
Novel mutations in ATPase 8, ND1 and ND5 genes associated with peripheral neuropathy of diabetes. Diabetes Res Clin Pract. (Jan 5) 2014
Bilateral hypertrophic olivary nucleus degeneration on magnetic resonance imaging in children with Leigh and Leigh-like syndrome. Br J Radiol. 87:20130478 2014
Unravelling the distinct strains of Tharu ancestry. Eur. J. Hum. Genet. (March 26) 2014
RAF1 mutations in childhood-onset dilated cardiomyopathy. Nature Genetics (April 28) 2014
A novel androgen receptor gene mutation in a patient with congenital adrenal hyperplasia associated with penoscrotal hypospadias. Transl Res. (May 6) 2014
A Novel Arginine to Tryptophan (R144W) Mutation in Troponin T (cTnT) Gene in an Indian Multigenerational Family with Dilated Cardiomyopathy (FDCM) PLoS One. 9(7):e101451 2014
Novel TCAP Mutation c.32C>A Causing Limb Girdle Muscular Dystrophy 2G. PLoS One. 9(7):e102763 2014
Mitochondria in health and disease. Mitochondrion 16: 1 2014
Genetics of male infertility: Indian scenario Mol Cytogenet. 21: 7 (Suppl.) 2014
Reduced prevalence of placental malaria in primiparae with blood group O Malar J. 13: 289 2014
Ancient human genomes suggest three ancestral populations for present-day Europeans Nature 513: 409 2014
Determinants of prakriti, the human constitution types of Indian traditional medicine and its correlation with contemporary science. J. Ayurveda Integr. Med. 5:167-75 2014
Mitochondrial Myopathy, Cardiomyopathy, and Pontine Signal Changes in an Adult Patient With Isolated Complex II Deficiency. J. Clin. Neuromuscul. Dis. 16:69-73 2014
Analysis of genetic variants in the IL4 promoter and VNTR loci in Indian patients with Visceral Leishmaniasis. Hum. Immunol. 75:1177-1181 2014
A novel insertion-induced frameshift mutation of the androgen receptor gene in a patient with primary amenorrhea. Meta Gene. 2:11-15. 2014
Mitochondrial DNA variations in ova and blastocyst: Implications in assisted reproduction. Mitochondrion. Jan 15. doi:pii: S1567-7249 2013
A rare non-synonymous c.102C>G SNP in the IFNB1 gene might be a risk factor for cerebral malaria in Indian populations. Infect Genet Evol. Jan 16. doi:pii: S1567-1348 2013
Genetic evidence of TAP1 gene variant as a susceptibility factor in Indian leprosy patients Hum Immunol. Feb 5 [Epub ahead of print] 2013
Mitochondrial DNA variations in Madras motor neuron disease Mitochondrion. Feb 15 [Epub ahead of print] 2013
Mitochondrial DNA variations in myelodysplastic syndrome Ann Hematol. Mar 9. [Epub ahead of print] 2013
Association between Neuropeptide Y Gene Polymorphisms and Alcohol Dependence: A Case-Control Study in Two Independent Populations Eur Addict Res. 19(6): 307-313 2013
The "Double Panda" Sign in Leigh Disease J Child Neurol. Apr 18. [Epub ahead of print] 2013
Haplogroup heterogeneity of LHON patients carrying m.14484T>C mutation in India Invest. Ophthalmol. Vis. Sci. May 14 [Epub ahead of print] 2013
Co-occurrence of m.1555A>G and m.11778G>A mitochondrial DNA mutations in two Indian families with strikingly different clinical penetrance of Leber hereditary optic neuropathy. Mol Vis. 19:1282-1289 2013
Variation at diabetes- and obesity-associated loci may mirror neutral patterns of human population diversity and diabetes prevalence in India Ann Hum Genet. Jul 1 [Epub ahead of print] 2013
Genetic Evidence for Recent Population Mixture in India. Am J Hum Genet.(2013 Aug 7) 2013
Association of progesterone receptor gene polymorphism with male infertility and clinical outcome of ICSI. J Assist Reprod Genet.(2013 Aug 11) 2013
A mitochondrial DNA variant 10398G>A in breast cancer among South Indians: An original study with meta-analysis. Mitochondrion Aug 29;13(6):559-565 2013
LRRK2 and RIPK2 Variants in the NOD 2-Mediated Signaling Pathway Are Associated with Susceptibility to Mycobacterium leprae in Indian Populations. PLoS One. Aug 28;8(8):e73103. 2013
L712V mutation in the androgen receptor gene causes complete androgen insensitivity syndrome due to severe loss of androgen function. Steroids Sep 18 [Epub ahead of print] 2013
Variations in ncRNA gene LOC284889 and MIF-794CATT repeats are associated with malaria susceptibility in Indian populations. Malar J. Sep 25;12(1):345 2013
Androgen Receptor CAG Repeats Length Polymorphism and the Risk of Polycystic Ovarian Syndrome (PCOS) PLoS One. 8(10):e75709 2013
Genetic Structure of Tibeto-Burman Populations of Bangladesh: Evaluating the Gene Flow along the sides of Bay-of-Bengal PLoS One. 8(10):e75064. 2013
Strong Impact of TGF-?1 Gene Polymorphisms on Breast Cancer Risk in Indian Women: A Case-Control and Population-Based Study. PLoS One 8:e75979 2013
Mitochondrial DNA variations associated with hypertrophic cardiomyopathy. Link Mitochondrion. (Nov 9) 2013
The light skin allele of SLC24A5 in South Asians and Europeans shares identity by descent. PLoS Genet. 9(11):e1003912. 2013
Clinical and magnetic resonance imaging findings in patients with Leigh syndrome and SURF1 mutations. Brain Dev. (Nov 18) 2013
Analysis of microsatellite polymorphisms in South Indian patients with non syndromic cleft lip and palate. Balkan J Med Genet. 16:49-54 2013
SRD5A2 gene polymorphisms affect the risk of breast cancer. Breast. Dec 20. 2013
Molecular Basis of ?-Thalassemia in Karnataka, India. Genet Test Mol Biomarkers. 16:138-41 2012
Herders of Indian and European cattle share their predominant allele for lactase persistence. Mol Biol Evol. 29: 249-60. 2012
EPHX1 Gene Polymorphisms in Alcohol Dependence and their Distribution among the Indian Populations. Am J Drug Alcohol Abuse. 2012 Jan 19. [Epub ahead of print] 2012
Resistance/response molecular signature for oral tongue squamous cell carcinoma. Dis Markers. 32: 51-64. 2012
Standardization of PCR conditions for an Ancient DNA Amplification Intl J Hum Sci 9 (1), 102-109 2012
Complete Androgen Insensitivity Syndrome Despite Partial Loss of Androgen Function Due to L712V Mutation in the Androgen Receptor Gene. J Androl. Feb 23. [Epub ahead of print] 2012
Genetic affinities of the central Indian tribal populations. PLoS One. 7: e32546 2012
Comprehensive DNA copy number profile and BAC library construction of an Indian individual Gene (21 March) 2012
Genetic and functional evaluation of the role of DLL1 in susceptibility to visceral leishmaniasis in India. Inf. Genet. Evol. 24 April 2012
Dopamine Transporter (DAT1) VNTR Polymorphism and Alcoholism in Two Culturally Different Populations of South India Am J Addict. 21: 343-347 2012
Association of SNP41, SNP56 and a novel SNP in PDE4D gene with stroke and its subtypes. Gene. Jul 3. [Epub ahead of print] 2012
High prevalence of Arginine to Glutamine Substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians. BMC Med Genet. Aug 10;13(1):69. [Epub ahead of print] 2012
Novel mutations in calcium/calmodulin-dependent protein kinase IV (CAMK4) gene in infertile men. Int J Androl. Aug 17 [Epub ahead of print] 2012
Genomic view on the peopling of India Investig Genet. Oct 1;3(1):20. [Epub ahead of print] 2012
Complex genetic origin of Indian populations and its implications J Biosci. Nov;37(5):911-9 2012
IL-4 Haplotype -590T, -34T and Intron-3 VNTR R2 Is Associated with Reduced Malaria Risk among Ancestral Indian Tribal Populations PLoS One. 7(10):e48136 2012
The phylogeography of Y-chromosome haplogroup H1a1a-M82 reveals the likely Indian origin of the European Romani populations. PLoS One 7:e48477 2012
Mutations in the ?-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities Cell Rep. Dec 12 [Epub ahead of print] 2012
A novel Arg615Ser mutation of androgen receptor DNA-binding domain in three 46,XY sisters with complete androgen insensitivity syndrome and bilateral inguinal hernia. Fertil. Steril. 95:804.e19-21. 2011
Role of ethnic variations in TNF-a and TNF-ß polymorphisms and risk of breast cancer in India. Breast Cancer Res. Treat. 126:739-747. 2011
The TNP1 haplotype - GCG is associated with azoospermia. Intl. J Androl. 34:173-182. 2011
Haplotypes on 9p21 Modify the Risk for Coronary Artery Disease Among Indians. DNA Cell Biol. 30:105-110. 2011
G708E Mutation in the Androgen Receptor Results in Complete Loss of Androgen Function. J. Androl. 32:193-198. 2011
Population Genetic Structure in Indian Austroasiatic speakers: The Role of Landscape Barriers and Sex-specific Admixture. Mol. Biol. Evol. 28: 1013-1024. 2011
CAG repeat length polymorphism in the androgen receptor gene and breast cancer risk: data on Indian women and survey from the world Breast Cancer Res Treat. 127:751-760. 2011
Establishing the identity of the massacred tigress in a case of wildlife crime. J. Forensic Sci. 5: 74-75. 2011
Establishing the identity of the massacred tigress in a case of wildlife crime. J. Forensic Sci. 5: 74-75. 2011
Novel alleles of HLA-DQ and -DR loci show association with recurrent miscarriages among South Indian women. Hum Reprod. 26:765-774. 2011
Mitochondrial DNA variations associated with recurrent pregnancy loss among Indian women. Mitochondrion. 11:450-456. 2011
Mitochondrial dysfunction and genetic heterogeneity in chronic periodontitis. Mitochondrion. 11:504-512. 2011
Identification of the source of ivory idol by DNA analysis. J.Forensic Science. 56:1343-1345 2011
Contribution of muscle biopsy and genetics to the diagnosis of chronic progressive external opthalmoplegia of mitochondrial origin. J Clin Neurosci. 18:535-538. 2011
No evidence for association between SLC11A1 and visceral leishmaniasis in India. BMC Med Genet. 12:71. 2011
Indian Siddis: African Descendants with Indian Admixture. Am J Hum Genet. 89: 154-161. 2011
Analysis of mitochondrial genome revealed a rare 50bp deletion and substitutions in a family with hypertension. Mitochondrion. Jul 20. [Epub ahead of print]. 2011
Cellular model of Warburg effect identifies tumor promoting function of UCP2 in breast cancer and its suppression by genipin. PLoS One 6:e24792 2011
Cardiac Troponin T (TNNT2) mutations are less prevalent in Indian hypertrophic cardiomyopathy patients. DNA Cell Biol. (in press). 2011
Shared and unique components of human population structure and genome-wide signals of positive selection in South Asia. Am J Hum Genet. 89:731-44 2011
Genetic and functional evaluation of the role of CXCR1 and CXCR2 in susceptibility to visceral leishmaniasis in north-east India BMC Med Genet. Dec 15; 12:162. 2011
Neuropeptide Y gene functional polymorphism influences susceptibility to hypertension in Indian population. J. Hum. Hyperten. 24:617-622 2010
R659X mutation in the MLH1 gene in hereditary non-polyposis colorectal cancer (HNPCC) in an Indian extended family. Ind. J. Med. 131:64-70. 2010
Role of Progesterone Receptor polymorphisms in the Recurrent Spontaneous Abortions: Indian case. PLoS One 5:e8712. 2010
Traces of sub-Saharan and Middle Eastern Lineages in Indian Muslim Populations. Eur J Hum Genet 18: 354-363. 2010
Mitochondrial DNA haplogroup 'R' is associated with Noonan syndrome of south India. Mitochondrion 10: 166-173. 2010
Genetic Polymorphisms of 15 Autosomal STR Loci in three Isolated Tribal Populations of Bangladesh. Forensic Sci. Intl. Genet. 4:265-226. 2010
Neuropeptide Y gene polymorphisms are not associated with obesity in a South Indian population. Eur. J. Clin. Nutr. 4: 868-872. 2010
Androgen receptor CAG repeat polymorphism and epigenetic influence among the south Indian women with Polycystic Ovary Syndrome. PLoS One. 5:e12401. 2010
HLA-G polymorphism patterns show lack of detectable association with recurrent spontaneous abortion. Tissue Antigens 76:216-222. 2010
C601S mutation in the androgen receptor results in partial loss of androgen function. J. Stroid Biochem. Mol. Biol. 122: 359-363. 2010
Population-based case-control study of DRD2 gene polymorphisms and alcoholism. J. Addict. Dis. 29: 475-480. 2010
The Influence of Natural Barriers in Shaping the Genetic Structure of Maharashtra Populations. PLoS One 5: e15283. 2010
No association of androgen receptor GGN repeat length polymorphism with infertility in Indian Men. J. Androl. 27:785-789. 2009
Ala 586 Asp mutation in androgen receptor disrupts transactivation function without affecting androgen binding. Fertil Steril. 91:933.e23-8. 2009
Genetic heterogeneity in the Indian stocks of seahorse (Hippocampus kuda and Hippocampus trimaculatus) inferred from mtDNA cytochrome b gene. Hydrobiol. 621: 213 - 221. 2009
A common Cardiac Myosin Binding Protein C variant associated with cardiomyopathies in South Asia. Nat. Genet. 41 187- 191. 2009
Transmission of hepatitis C virus infection from asymptomatic mother to child in southern India. Int J Infect Dis. 13:e399-400. 2009
Diverse genetic origin of Indian Muslims: evidence from autosomal STR loci. J Hum Genet. 54: 340-348. 2009
Longer (TA)n Repeat but not A49T and V89L Polymorphisms in SRD5A2 Gene May Confer Prostate Cancer Risk in South Indian Men. J. Androl. 30:703-10. 2009
Estrogen receptor gene mutations in Indian infertile men. Mol. Hum. Reprod. 15:513-20. 2009
APOB gene signal peptide deletion polymorphism is not associated with infertility in Indian men. J. Androl. 30:734-8. 2009
Deep rooting in-situ expansion of mtDNA haplogroup R8 in South Asia. PLoS ONE 4: e6545. 2009
Longer CAG repeat length in Androgen Receptor gene is associated with premature ovarian failure. Hum. Reprod. 24:3230-5. 2009
Reconstructing Indian Population History. Nature. 461: 489-494. 2009
Dopamine transporter (DAT1) VNTR polymorphism in twelve Indian populations. Neurol. Sci. 30: 487-493 2009
The latitude wise prevalence of the CCR5- d32-HIV resistance allele in India. Bal. J. Med. Genet. 12: 3-13. 2009
Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a. Eur. J. Hum. Genet. 18: 479-484. 2009
Androgen insensitivity syndrome: Do trinucleotide repeats in androgen receptor gene have any Role? Asian J. Androl. 10:616-624. 2008
Maternal footprints of southeast Asians in north India. Hum. Heredity. 28:66:1-9 2008
Allelic variation and haplotype structure of the Dopamine receptor gene DRD2 in 9 Indian populations. Genet. Testing 12:153-160 2008
Microsatellite-based phylogeny of Indian domestic goats. BMC Genet. 9:11 2008
Transmission of "a" determinant variants of Hepatitis B virus in immunized babies to HBsAg carrier mothers. Jpn. J. Infect. Dis. 61: 73-76. 2008
Reduced CAG repeats length in androgen receptor gene is associated with violent criminal behavior. Intl. J. Legal Med. 22:367-372. 2008
Mitochondrial DNA Variation and Substructure among the Tribal Populations of Andhra Pradesh, India. Ann. Hum. Biol. 20:683-692. 2008
CAG repeat variation in the mtDNA polymerase g (POLG) is not associated with oligoasthenozoospermia. Intl. J. Androl. 32:647-655. 2008
Novel variants in UBE2B gene and idiopathic male infertility. J. Androl. 29:564-571. 2008
Phylogeography of mtDNA haplogroup R7 in the Indian peninsula. BMC Evol. Biol. 4;8:227. 2008
Y-chromosome STR haplotypes in two endogamous tribal populations of Karnataka, India. J. Forensic Sci. 52: 751-753. 2007
Autosomal STR data on the enigmatic Andaman islanders. Forensic Sci. Intl. 169:247-251. 2007
Y-chromosome evidence suggests a common paternal heritage of Austro-Asiatic populations. BMC Evol. Biol.7: 47 2007
Novel mitochondrial DNA mutations implicated in Noonan syndrome. Intl. J. Cardiol. 120:284-285. 2007
Independent origin of 185delAG BRCA1 mutation in an Indian family. Neoplasma 54:51-56. 2007
Nonprogressive juvenile-onset spinal muscular atrophy: A clinico-radiological and CAG repeat study of androgen receptor gene. J Neurol Sci. 252:24-28. 2007
A novel BRCA1 mutation in an Indian family with hereditary breast/ovarian cancer. Breast Cancer Res. Treat. 101:3-6. 2007
Phenotypic heterogeneity of mutations in androgen receptor gene. Asian J. Androl. 9:147-179. 2007
Single Nucleotide Polymorphisms in Alcohol Dehydrogenase (ADH) genes among Some Indian populations. Am. J. Hum. Biol. 19:338-344. 2007
Is there an inter-relationship between prostate specific antigen, kallikrein-2 and androgen receptor gene polymorphisms with risk of prostate cancer in north Indian population? Steroids 72:335-341. 2007
Is there an inter-relationship between prostate specific antigen, kallikrein-2 and androgen receptor gene polymorphisms with risk of prostate cancer in north Indian population? Steroids 72:335-341. 2007
Y-chromosomal insights into the genetic impact of the caste system in India. Hum Genet. 121:137-144. 2007
L859F Mutation in androgen receptor gene results in complete loss of androgen binding to the receptor. J. Androl. 28:772-776. 2007
CA repeat and RsaI polymorphisms in ERß gene are not associated with infertility in Indian men. Intl. J. Androl. 30:1-7 2007
Austro-Asiatic Tribes of Northeast India Provide Hitherto Missing Genetic Link between South and Southeast Asia. PLoS ONE 2: e1141 2007
. Allelic variation in the NPY gene in 14 Indian populations. J. Hum. Genet. 52:592-598. 2007
SRY negative 46,XX male with normal genitals, complete masculinization and infertility. Mol. Hum. Rep. 12: 341-346. 2006
A novel androgen receptor mutation resulting in complete androgen insensitivity syndrome and bilateral Leydig cell hyperplasia. J. Androl. 27:510-516. 2006
Unique origin of Andaman islanders: insight from autosomal loci. J. Hum. Genet. 51:800-804. 2006
A to G transitions at 260, 386 and 437 in DAZL gene are not associated with spermatogenic failure in Indian population. Intl. J. Androl. 29:510-514. 2006
Asian and Non-Asian Origins of Mon-Khmer and Mundari Speaking Austro-Asiatic populations of India. Am. J. Hum. Biol. 18: 461-469. 2006
Clinical and genetic uniqueness in an individual with MELAS. Am. J. Med. Genet (B). 141B: 440-444. 2006
Novel mitochondrial DNA mutations in a rare variety of hypertrophic cardiomyopathy. Intl. J. Cardiol. 109: 432-433. 2006
South Indian men with reduced CAG repeat length in the androgen receptor gene have increased risk of prostate cancer. J. Hum. Genet. 52: 254-257. 2006
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Genetic profile of nine STR loci among Goud and Padmashali populations of Andhra Pradesh, India. Forensic Sci Intl 157: 201-205. 2006
Genetic Profile of Nine Autosomal STR Loci among Halakki and Kunabhi populations of Karnataka, India. J. Forensic Sci. 51: 190-192. 2006
A Simple and Inexpensive Molecular Method for Sexing and Identification of the Forensic Samples of Elephant Origin. J. Forensic Sci 51:805-807. 2006
Genetic affinities among the lower caste and tribal groups of India: inference from Y chromosome and Mitochonfrial DNA. BMC Genetics 7: 42 2006
GGN repeat length and GGN/CAG haplotype variations in the androgen receptor gene and prostate cancer risk in south Indian Men. J. Hum. Genet. 51:998-1005 2006
Novel mitochondrial mutation in ND4 gene associated with Leigh Syndrome. Acta Neurol.Scan. 114:350-353. 2006
A novel missense mutation C11994T in the mitochondrial ND4 gene as a cause of low sperm motility in the Indian subcontinent. Fert. Sterl. 86:1783-1785. 2006
Male infertility: No Evidence of Involvement of Androgen Receptor Gene among Indian Men. J. Androl. 27: 102-105. 2006
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K Thangaraj

Chief Scientist

2634

thangs@ccmb.res.in

Nitin C Tupperwar

Principal Scientist

2606

nitint@ccmb.res.in

G Mala

Principal Technical Officer

2638

mala@ccmb.res.in

S Deepa Selvi Rani

Sr. Technical Officer(2)

2636

deepa@ccmb.res.in

Jagamohan Chhatai

Technical Officer

2638

jagamohan@ccmb.res.in

Purushotham V

Technical Officer

2516

purushotham@ccmb.res.in

Narmadha

CSIR Nehru PDF

2640

narmadha@ccmb.res.in

Sunitha Kundur

Research Associate-I

2640

sunitha.k@ccmb.res.in

Sunil Kumar Tripathi

Senior Research Fellow

2636

sunilkumar@ccmb.res.in

Rajan Kumar Jha

Senior Research Fellow

2637

rajanjha@ccmb.res.in

Nipa Basak

Senior Research Fellow

2637

nipabasak@ccmb.res.in

Jaydeep Aravindbhai Badarukhiya

Senior Research Fellow

2640

jd.aravind41@ccmb.res.in

Lomous Kumar

Senior Research Fellow

2642

lomous.kumar@ccmb.res.in

Umesh Kumar

Junior Research Fellow

2640

u.kumar@ccmb.res.in

Deepak Kumar Kashyap

Junior Research Fellow

2636

deepak.kashyap@ccmb.res.in

Sagnik Dhar

Junior Research Fellow (CSIR)

2636

sagnik@ccmb.res.in

Pratheusa Machha

Junior Research Fellow (DBT)

2640

pratheusa@ccmb.res.in

Usha Kabilan

Project Assistant-II

2638

ushakabilan@ccmb.res.in

Meghana P

Project Assistant-II

2636

meghana@ccmb.res.in