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Genomic affinity among the Siddis, nine south Indian tribal groups, and African and European populations. The unrooted neighbor-joining tree is based on 15 autosomal DNA markers, PV92, FXIIIB, APO, ACE, PLAT, ESR, T2, LPL, PSCR, ADH2, TaqIB, TaqID, TaqIA, Hb7, and Hb8  

Genomic affinity among the Siddis, nine south Indian tribal groups, and African and European populations. The unrooted neighbor-joining tree is based on 15 autosomal DNA markers, PV92, FXIIIB, APO, ACE, PLAT, ESR, T2, LPL, PSCR, ADH2, TaqIB, TaqID, TaqIA, Hb7, and Hb8  

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The Siddis are a tribal group of African origin living in Karnataka, India. They have undergone considerable cultural change due to their proximity to neighboring population groups. To understand the biological consequences of these changes, we describe the genomic structure of the Siddis and the contribution from putative ancestral populations usi...

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... Recent research demonstrates that genetic and isotopic analysis can provide important insights into the movement of enslaved peoples, especially those of African origin, and their descendants within and beyond the Indian Ocean world and some aspects of their daily lives. DNA research has, for example, not only confirmed the East African slave origin of modern Siddi communities in India and the Makrani community in Pakistan, but also provided insights into their interaction with local populations through time (Gauniyal et al. 2008(Gauniyal et al. , 2011Laso-Jadart et al. 2017;Narang et al. 2011;Ramana et al. 2001;Shah et al. 2011). Genetic and isotopic analysis of slave skeletal remains recovered in Cape Town (Cox and Sealy 1997;Kootker et al. 2016) and from the Liberated African graveyard on St. Helena (MacQuarrie and Pearson 2016; Pearson et al. 2011;Sandoval-Velasco et al. 2019) likewise attest to the contributions that such research can make to our understanding of the dynamics of European slave trading. ...
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... India comprises of many ethnic, caste, religious and linguistic groups (Bhasin 2006) and the country presents a great diversity of cultural, morphological, linguistic, and genetic traits (Majumder 1998). Several Alu InDel marker variation studies have been reported from India, including Kshatriya et al. (2011) from West India, Majumdar et al. (1999), Chakrabarti et al. (2002), Meitei et al. (2010), Panmei et al. (2016), Kshatriya et al. (2019) and Kameih et al. (2020) from East India, Mukherjee et al. (2000) from Central India, and Veerraju et al. (2001), Vishwanathan et al. (2004), Ravindranath et al. (2005), Saraswathy et al. (2008), Gauniyal et al. (2011), Krishnaveni and Prabhakaran (2015) and Deva et al. (2016) from South India. As for North India, such investigations are mostly available on the populations of Jammu and Kashmir (Panjaliya et al. 2012(Panjaliya et al. , 2013, Punjab (Kaur et al. 2002, Saini et al. 2012, Singh et al. 2016, Uttar Pradesh Tripathi et al. 2008 ) and Rajasthan (Dada et al. 2011) while from the State of Himachal Pradesh only a single study (Bala et al. 2019) has been reported. ...
... Therefore, India offers an excellent opportunity to study human socio-cultural and genetic variability. Several genome di-versity studies based on bi-allelic InDel and SNP polymorphisms have revealed that there was a high level of genomic diversity among human populations of various ethnic groups inhabiting different regions of the country (Majumder et al.1999;Mukherjee et al. 2000;Bamshad et al. 2001, Veerraju et al. 2001Chakrabarti et al. 2002, Kaur et al. 2002, Basu et al. 2003, Vishwanathan et al. 2004Ravindranath et al. 2005;Mastana 2007;Vijaya et al. 2007;Gauniyal et al. 2008Gauniyal et al. , 2011Kanthimathi et al. 2008;Saraswathy et al. 2008Saraswathy et al. , 2009Tripathi et al. 2008;Meitei et al. 2010;Dada et al. 2011;Kshatriya et al. 2011Kshatriya et al. , 2019Mondal et al. 2011;Yadav and Arora 2011;Panjaliya et al. 2010Panjaliya et al. , 2012Panjaliya et al. , 2013Saini et al. 2012;Sharma et al. 2012;Krishnaveni and Prabhakaran 2015;Chinniah et al. 2016;Deva et al. 2016;Laybourn et al. 2016;Panmei et al. 2016;Singh et al. 2016Singh et al. , 2017Bala et al. 2019;Singh and Bhanwer 2019;Singh et al. 2020). These studies also demonstrated that most of the genetic diversity in people of India was found within populations rather than between populations. ...
... India comprises of many ethnic, caste, religious and linguistic groups (Bhasin 2006) and the country presents a great diversity of cultural, morphological, linguistic, and genetic traits (Majumder 1998). Several Alu InDel marker variation studies have been reported from India, including Kshatriya et al. (2011) from West India, Majumdar et al. (1999), Chakrabarti et al. (2002), Meitei et al. (2010), Panmei et al. (2016), Kshatriya et al. (2019) and Kameih et al. (2020) from East India, Mukherjee et al. (2000) from Central India, and Veerraju et al. (2001), Vishwanathan et al. (2004), Ravindranath et al. (2005), Saraswathy et al. (2008), Gauniyal et al. (2011), Krishnaveni and Prabhakaran (2015) and Deva et al. (2016) from South India. As for North India, such investigations are mostly available on the populations of Jammu and Kashmir (Panjaliya et al. 2012(Panjaliya et al. , 2013, Punjab (Kaur et al. 2002, Saini et al. 2012, Singh et al. 2016, Uttar Pradesh Tripathi et al. 2008 ) and Rajasthan (Dada et al. 2011) while from the State of Himachal Pradesh only a single study (Bala et al. 2019) has been reported. ...
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... Because of high number of polymorphic sites, the analysis of HVS -I and II enable to study matrilineal ancestry and explore patterns of female movement and [9] interactions in the past . The HVSs are highly valuable markers in terms of population genetics or phylogenetic [10,11] studies . ...
... Because of high number of polymorphic sites, the analysis of HVS -I and II enable to study matrilineal ancestry and explore patterns of female movement and [9] interactions in the past . The HVSs are highly valuable markers in terms of population genetics or phylogenetic [10,11] studies . ...
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IntroductionBased on historical records suggesting that the ancestry of the Purana (old) population living in the suburbs of Sigiriya in Sri Lanka can be traced back to the times of the Sinhalese Kings of the 5th century A.D. (1,450 YBP) and studies reporting that the Purana are biometrically different from the rest of present Sri Lankans and other populations in the world, we investigate the maternally inherited Mitochondrial DNA (mtDNA) of Purana population in the suburbs of Sigiriya to better understand genetic affinities of them to present day Sri Lankans. Materials and Methods Forty six Purana inhabitants belonging to Purana pedigrees were recruited in the study. Mitochondrial DNA was extracted, amplified and sequenced. Polymorphisms of mtDNA hypervariable segment I (HVS –I) between nucleotide positions 16,004 –16,411 were identified using CLUSTALX option of MEGAVA 4.0 sequence alignment software. In order to investigate genetic affinity of Purana population, Arlequin software version 3.11 and analysis of molecular variance (AMOVA) were applied using reported similar genetic data of present Sri Lankans such as Sinhalese, Sri Lankan Tamils, Indian Tamils, Sri Lankan Moors and Vedda. Genetic relationships of Purana population with other Sri Lankans were further explored by phylogenetic analysis. Results and AnalysisGenetic dissimilarity among groups was higher (2.81%) when populations were grouped into two as modern and Purana than grouping them according to their ethnic basis (0.00%). This indicates a restricted mtDNA flow between the two groups (Purana and rest of the Sri Lankans) that made Purana population was maternally isolated from the rest of Sri Lankans. Conclusion Detailed phylogenetic analysis of the study revealed that they are maternally more related to Sri Lankan Tamil than to any other present Sri Lankans.
... Several previous investigations have suggested that the Siddi genomes are predominantly closest to that of the Africans (Thangaraj et al. 1999). Further work not only confirmed the African ancestry of the Siddi people, but additionally revealed that they have assimilated considerable fractions of nonAfrican admixture components in their genomes (Gauniyal et al. 2008(Gauniyal et al. , 2011Ramana et al. 2001). This is not unexpected given that the Siddis shared long periods of contact with both the South Indians (South Asians) and the Portuguese (Europeans). ...
... This is not unexpected given that the Siddis shared long periods of contact with both the South Indians (South Asians) and the Portuguese (Europeans). In congruence, subsequent studies delineated three ancestral components, African, South Asian, and European in the Siddi genomes (Gauniyal et al. 2008(Gauniyal et al. , 2011Narang et al. 2011;Shah et al. 2011). ...
... The Siddis are a unique tribal group settled in India whose ancestry is composed of African, South Asian, and European components (Bhattacharya 1970;Gauniyal et al. 2008Gauniyal et al. , 2011Narang et al. 2011;Ramana et al. 2001;Shah et al. 2011;Thangaraj et al. 1999). Several genetic studies have suggested that they are most closely related to Africans (Gauniyal et al. 2008(Gauniyal et al. , 2011 and have traced their ancestry to Bantu language speakers from subSaharan Africa (Narang et al. 2011;Shah et al. 2011). ...
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The Siddis are a unique Indian tribe of African, South Asian and European ancestry. While previous investigations have traced their ancestral origins to the Bantu populations from sub-Saharan Africa, the geographic localization of their ancestry has remained elusive. Here, we performed biogeographical analysis to delineate the ancestral origin of the Siddis employing an admixture based algorithm, Geographical Population Structure (GPS). We evaluated the Siddi genomes in reference to five African populations from the 1000 Genomes project, two Bantu groups from the Human Genome Diversity Panel (HGDP) and five South Indian populations. The Geographic Population Structure analysis localized the ancestral Siddis to Botsawana and its present-day northeastern border with Zimbabwe, overlapping with one of the principal areas of secondary Bantu settlement in southeast Africa. Our results further indicated that while the Siddi genomes are significantly diverged from that of the Bantus, they manifested the highest genomic proximity to the North-East Bantus and the Luhyas from Kenya. Our findings resonate with evidences supporting secondary Bantu dispersal routes that progressed southward from the east African Bantu center, in the inter-lacustrine region and likely brought the ancestral Siddis to settlement sites in south and southeastern Africa from where they were disseminated to India, by the Portuguese. We evaluated our results in the light of existing historical, linguistic and genetic evidences, to glean an improved resolution into the reconstruction of the distinctive population history of the Siddis, and advance our knowledge of the demographic factors that likely contributed to the contemporary Siddi genomes.
... Several previous investigations have suggested that the Siddi genomes are predominantly closest to that of the Africans (Thangaraj et al. 1999). Further work not only confirmed the African ancestry of the Siddi people, but additionally revealed that they have assimilated considerable fractions of nonAfrican admixture components in their genomes (Gauniyal et al. 2008(Gauniyal et al. , 2011Ramana et al. 2001). This is not unexpected given that the Siddis shared long periods of contact with both the South Indians (South Asians) and the Portuguese (Europeans). ...
... This is not unexpected given that the Siddis shared long periods of contact with both the South Indians (South Asians) and the Portuguese (Europeans). In congruence, subsequent studies delineated three ancestral components, African, South Asian, and European in the Siddi genomes (Gauniyal et al. 2008(Gauniyal et al. , 2011Narang et al. 2011;Shah et al. 2011). ...
... The Siddis are a unique tribal group settled in India whose ancestry is composed of African, South Asian, and European components (Bhattacharya 1970;Gauniyal et al. 2008Gauniyal et al. , 2011Narang et al. 2011;Ramana et al. 2001;Shah et al. 2011;Thangaraj et al. 1999). Several genetic studies have suggested that they are most closely related to Africans (Gauniyal et al. 2008(Gauniyal et al. , 2011 and have traced their ancestry to Bantu language speakers from subSaharan Africa (Narang et al. 2011;Shah et al. 2011). ...
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The Siddis are a unique Indian tribe of African, South Asian and European ancestry. While their ancestral origins have been traced to the Bantu populations from sub-Saharan Africa, their population history has remained an enigmatic question. Here, we have traced the biogeographical origin of the Siddis employing an admixture based algorithm, Geographical Population Structure (GPS). We evaluated 14 Siddi genomes in reference to 5 African populations from the 1000 Genomes project and 7 Bantu populations from the Human Genome Diversity project. GPS assigned the Siddi genomes to west Zambia and the present-day border between Zimbabwe and northeastern Botswana, overlapping with one of the principal areas of secondary Bantu settlement in Africa, ~1700 years before present (YBP). This is concordant with the secondary Bantu dispersal route from the east African Bantu center that brought the African ancestors of the Siddis to settlement sites in southeast Africa, from where they were disseminated to India, by the Portuguese. Our results also suggest that while the Siddi genomes are significantly different from that of the Bantus, they displayed the highest genomic proximity to the Luhyas and North-East Bantus from Kenya, and that ancestral Siddis are likely to have split from the Luhyas, ~2700 YBP, in congruence with known Bantu expansion and population migration routes. Together with historical, linguistic and anthropological evidences our findings shine light on the genetic relatedness between populations, fine-scale population structure and recapitulate the population history of the Siddis, in the ethnohistorical context of India.
... Around 1100 AD, the existence of this tribal group in Western India has been first documented and later, in 13th century Nawabs and Sultans of India imported large group of Siddi individuals from Africa as their slaves [34]. Interestingly, more recent genetic studies provide evidences that the Siddi's are not only descents from Africans, but they also seem to have a European and South Asian ancestry [26,35,36]. Currently, this tribal group is largely settled in and around Western Ghats forest of Karnataka ( Figure 2) with agriculture and daily wage as their primary occupation. ...
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India is characterized by the presence of a large number of endogamous castes, tribes and religions, having second largest concentration of tribal population in the World with differed genetic ethnicity, lifestyle and environmental habitat from those of mainstream population. Lack of data is constraint when it comes to tracking the tribal population health status, specifically reproductive health aspects by experimental approaches. The male fertility impairment depends on Y chromosome azoospermia factor c (AZFc) subdeletions, which varies highly in different geographical populations and in an Indian admixed population the frequency and effect of deletion on fertility is relatively poorly documented. Therefore, the current study has been initiated to enumerate and characterize the strength of association between Yq11 AZFc subdeletions and fertility impairment among Siddi tribal men of Western Ghats, India. Here, using predesigned performa we collected personal as well as familial information of 200 volunteered male subjects and grouped them into: (i) 104 married individuals with proven fertility, and (ii) 96 unmarried men with unknown fertility status. Quantification of reproductive hormones such as follicle stimulating hormone (FSH), leutinizing hormone (LH) and testosterone were studied. Oxidative stress markers like total antioxidant capacity (TAC) and super oxide dismutase (SOD) along with analysis of five sequence tagged site (STS) hotspot markers were employed for mapping of Y chromosome AZFc subdeletions. Statistical analyses were performed using SPSS software. Hormonal analysis and estimation of oxidative stress markers showed normal values with no significant differences between two subgroups. However, the Y chromosome AZFc subdeletion mapping revealed evident results as an individual displayed absence of STS sY1191 marker indicating b2/b3 deletion, whereas rest of the subjects exhibited no deletion for all the five STS markers. While, the individual has fathered two children, at this point it is difficult to draw a causal link between the observed deletion and its effect on fertility. Thus, our current study suggests that the association between AZFc subdeletions with its effect on infertility varies highly in this study cohort compared to other Indian ethnic groups, exhibiting lower risk factor and non-association reaching insignificance among Siddi tribal men.
... The mitochondrial DNA hypervariable sequence also confirmed the Siddis' affinity with Africans. However, there was no high resolution study pertaining to the origin, affinity and genetic structure of the Indian Siddis565758. In an attempt to reveal these issues together, we screened the Siddi populations from the Junagarh district of Gujarat and Uttara Kannad district of Karnataka using mtDNA and Y-chromosomal and high density autosomal markers. ...
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India is known for its vast human diversity, consisting of more than four and a half thousand anthropologically well-defined populations. Each population differs in terms of language, culture, physical features and, most importantly, genetic architecture. The size of populations varies from a few hundred to millions. Based on the social structure, Indians are classified into various caste, tribe and religious groups, which make them unique from the rest of the world. These social classifications are very rigid and have remained undisturbed by emerging urbanisation and cultural changes. The variable social customs, strict endogamy marriage practices, long-term isolation and evolutionary forces have added immensely to the diversification of the Indian populations. These factors have also led to these populations acquiring a set of Indian-specific genetic variations responsible for various diseases in India. Interestingly, most of these variations are absent outside the Indian subcontinent. Thus, this review is focused on the peopling of India, the caste system, marriage practice and the resulting health and forensic implications.