Ladakh, India: the land of high passes and genetic heterogeneity reveals a confluence of migrations

Rowold, Diane J.; Benedico, David Perez; Garcia-Bertrand, Ralph; Chennakrishnaiah, Shilpa; Alfonso‐Sánchez, Miguel Á.; Gayden, Tenzin; Herrera, René J.

doi:10.1038/ejhg.2015.80

Cited by 15 publications

(15 citation statements)

References 34 publications

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“…However, in the present study, when GJ and LL populations were compared based on mtDNA, the results were in concordance with those of autosomal SNPs, i.e., both GJ and LL were genetically distant than other populations. The LL population displayed higher genetic diversity as compared to GJ (0.009 for GJ and 0.01 for LL) suggesting higher heterogeneity in LL samples, consistent with the previous report 13 . Pairwise F ST values among the populations based on mtDNA sequences were similar to that of SNP-based analyses, wherein the mean F ST for GJ was higher than that of LL.…”

Section: Discussionsupporting

confidence: 90%

“…The GJ community is primarily nomadic and is believed to practice a highly endogamous culture, conservative lifestyle, religious practices and traditional occupation as compared to other populations in the vicinity. In contrast, the enormous diversity in terms of cultural, religious and food practices in the populations of LL is believed to be the result of congruence of different ancestral groups 13 .…”

Section: Discussionmentioning

confidence: 98%

“…The present study was undertaken to understand the genetic diversity of Gujjars (GJ) and Ladakhis (LL). Both the populations selected for the study possess interesting history and their arrival in the Indian subcontinent is believed to be a consequence of different demographic events 10,13 . Even though both the populations are in geographic proximity, their origin and settlement in India are vastly different.…”

Section: Discussionmentioning

confidence: 99%

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The genetic affinities of Gujjar and Ladakhi populations of India

Singh

Sarkar

Kumar

et al. 2020

Sci Rep

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The Union Territories of Jammu and Kashmir (J&K) and Ladakh in North India owing to their unique geographic location offer a wide variety of landscape from plains to high altitudes and is a congruence of many languages and cultural practices. Here, we present the genetic diversity studies of Gujjars from Jammu region of J&K and Ladakhi population based on a battery of autosomal single nucleotide polymorphisms (SNPs) and short tandem repeats (STRs), Y-chromosomal STRs and the control region of the mitochondrial genome. These two populations were observed to be genetically distant to each other as well as to other populations from India. Interestingly, Y-STR analyses showed a closer affinity of Gujjars to other nomadic populations of Pashtuns from Baghlans and Kunduz provinces of Afghanistan and Pashtuns and Sindhis of Pakistan. Gujjars exhibited lesser genetic diversity as compared to Ladakhi population. M30f and M9 were the most abundant mitochondrial haplogroups observed among Gujjars and Ladakhis, respectively. A lower matrilineal to patrilineal diversity was observed for both these populations. The current study presents the first comprehensive analysis of Gujjars and Ladakhis and reveals their unique genetic affiliations with other populations of the world. The Indian subcontinent, which represents about one-sixth of the world population, is a unique conglomerate of multiple cultures, languages and genetic diversity. Together with sub-Himalayan countries and the present day Pakistan, Bangladesh and Sri Lanka, the Indian subcontinent is one of the oldest geographical regions inhabited by modern humans and is a witness to ancient human migratory histories 1. The two northernmost Union Territories of India viz., Jammu and Kashmir (J&K) and Ladakh, owing to their geographical location, are believed to have served as a corridor for ancient human migrations between main land of Indian subcontinent and NorthEast Asia, Eurasia or Africa 2,3. The populations of J&K and Ladakh offer a unique platform for looking into the past anthropological and demographic events which may have shaped the extant human population diversity. However, there is scant information about these populations in phylogenetic studies reported in the literature 4-6. In this study we have attempted to understand the genetic relationship of Gujjars (GJ) from Jammu region of J&K and Ladakhis (LL) with other populations of Indian subcontinent. Gujjars inhabit the northwestern region of the Indian subcontinent spanning across the regions of J&K, Himachal Pradesh (HP), Rajasthan (RJ), Haryana and Gujarat in India, and in the neighboring countries of Pakistan and Afghanistan. In the Union Territory of J&K, Gujjars constitute the third-largest population group and follow a nomadic/semi-nomadic lifestyle and are dependent on rearing of cattle, goats and sheep 7. Few research groups had previously reported on the genetic diversity studies among Gujjars 8-11 , however, considering the unique geographical distribution of Gujjars and their under-representation...

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Section: Discussionsupporting

confidence: 90%

Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

The genetic affinities of Gujjar and Ladakhi populations of India

Singh

Sarkar

Kumar

et al. 2020

Sci Rep

View full text Add to dashboard Cite

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“…21 One previous report suggests that from Africa these might have been introduced into the Spanish population by Arab invaders and into African American population with the slave deportation. 21 The genetic landscape of Indian populations is highly diverse as shown by previous studies based upon mitochondrial 32 and Y chromosomal DNA. 33 However, looking at the pathological relevance of HLA-G, it is evident that HLA-G plays an important role in the regulation of immune response and immune modulation in spite of low degree of genetic diversity.…”

Section: Discussionmentioning

confidence: 94%

Non-Classical Human Leukocyte Antigen-G Allelic Diversity Among North Indians

Prakash¹,

Misra²,

Agrawal³

2017

Anthropol Open J

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Objectives: Throughout evolution high degree of polymorphism of human leukocyte antigens (HLA) has been observed which ensured accommodation and presentation of all possible antigens. Non-classical human leukocyte antigens-G (HLA-G) region shows polymorphism at 5′-upstream regulatory region (5′-URR) and in the 3′-untranslated region (3′-UTR). These polymorphisms have not been explored extensively in spite of the fact that they have been associated with immune-modulation. This study explores the HLA-G allele diversity and their plausible role in reshaping the global population structure. Methods: Three hundred North Indians were screened using HLA-G 5´URR region by sequencing. The 14 bp insertion deletion polymorphism was evaluated by polymerase chain reaction (PCR) followed by polyacrilymide gel electrophoresis (PAGE). Detailed statistical analysis was done to compare the present population with allele frequency data of 12 global populations. The number of populations was restricted as only sequence based typing based studies were considered. Results: The genetic distance, phylogenetic analysis and principal component analysis revealed genetic similarity of North Indians with populations of West Eurasian descent from HLA-G allelic diversity view point. Mongoloid, African, and South American populations revealed less genetic similarity with North Indians. Conclusions: Indian subcontinent has undergone many historical migrations and invasions hence it is intriguing to observe how the conserved HLA-G has behaved from the population diversity view point throughout these years. Our results revealed less genetic distance with Caucasians suggesting an evolutionary link among them.

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“…To clear up the detailed relationship between the Lhasa € U-Tsang Tibetan population and other populations with diverse language families, the PCA was performed among 194 populations (in total 10 721 individuals) which included Austro-Asiatic, Austronesian, Altaic, Semito-Hamitic, Caucasian, Uralic, Dravidian, Indo-European, Tai-Kadai, Hmong-Mien, Tibeto-Burman, and Chinese (Southern and Northern Han) populations all over the world [37][38][39][40][41][42][43][44][45][46][47][48][49][50]. We used our in-house dataset, including 37 754 pieces of Y SNP/STR data and 109 142 Y-STR in total which mainly from Asia, to make predictions for Lhasa € U-Tsang Tibetan in this study [51].…”

Section: Y-haplogroup Estimationmentioning

confidence: 99%

Genetic polymorphisms and phylogenetic analyses of the Ü-Tsang Tibetan from Lhasa based on 30 slowly and moderately mutated Y-STR loci

Ding

Fan

Zhou

et al. 2020

Forensic Sciences Research

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As a result of the expansion of old Tibet on the Qinghai-Tibet Plateau, Tibetans diverged into three main branches, € U-Tsang, Amdo, and Kham Tibetan. € U-Tsang Tibetans are geographically distributed across the wide central and western portions of the Qinghai-Tibet Plateau while Lhasa is the central gathering place for Tibetan culture. The AGCU Y30, a 6dye fluorescence kit including 30 slowly and moderately mutated Y-STR loci, has been validated for its stability and sensitivity in different biomaterials and diverse Chinese populations (Han and other minorities), and widely used in the practical work of forensic science. However, the 30 Y-STR profiling of Tibetan, especially for € U-Tsang Tibetan, were insufficient. We utilized the AGCU Y30 to genotype 577 € U-Tsang Tibetan unrelated males from Lhasa in the Tibet Autonomous Region of China to fill up the full and accurate Y-STR profiles. A total of 552 haplotypes were observed, 536 (97.10%) of which were unique. One hundred and ninety-four alleles were observed at 26 single copy loci and the allelic frequencies ranged from 0.0017 to 0.8180. For the two multi-copy loci DYS385a/b and DYS527a/b, 64 and 36 allelic combinations were observed, respectively. The gene diversity (GD) values ranged from 0.3079 at DYS391 to 0.9142 at DYS385a/b and the overall haplotype diversity (HD) was 0.9998, and its discrimination capacity (DC) was 0.9567. The population genetic analyses demonstrated that Lhasa € U-Tsang Tibetan had close relationships with other Tibetan populations from Tibet and Qinghai, especially with € U-Tsang Tibetan. From the perspective of Y haplogroups, the admixture of the southward Qiang people with dominant haplogroup O-M122 and the northward migrations of the initial settlers of East Asia with haplogroup D-M175 hinted the Sino-Tibetan homologous, thus, we could not ignore the gene flows with other Sino-Tibetan populations, especially for Han Chinese, to characterize the forensic genetic landscape of Tibetan.

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Ladakh, India: the land of high passes and genetic heterogeneity reveals a confluence of migrations

Cited by 15 publications

References 34 publications

The genetic affinities of Gujjar and Ladakhi populations of India

The genetic affinities of Gujjar and Ladakhi populations of India

Non-Classical Human Leukocyte Antigen-G Allelic Diversity Among North Indians

Genetic polymorphisms and phylogenetic analyses of the Ü-Tsang Tibetan from Lhasa based on 30 slowly and moderately mutated Y-STR loci

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