Figure 1 - uploaded by Chuan-Chao Wang
Content may be subject to copyright.
Source publication
Abstract The Himalayas have been suggested as a natural barrier for human migrations, especially the northward dispersals from the Indian Subcontinent to Tibetan Plateau. However, although the majority of Sherpa have a Tibeto-Burman origin, considerable genetic components from Indian Subcontinent have been observed in Sherpa people living in Tibet....
Contexts in source publication
Context 1
... to the nomenclature of Y Chromosome Consortium (YCC) ( Karafet et al., 2008;Yan et al., 2011), nine SNP haplogroups were determined from the 84 male individual samples ( Figure 1a and Table S1). Haplogroup D1-M15, which is supposed to be the Paleolithic genetic legacy with a wide distribution among most Tibeto-Burman, Tai-Kadai, and Hmong- Mien populations (Shi et al., 2008), is also prevalent in Sherpa (11.90%). Haplogroup D3-P99 and its sublineage D3a-P47 are almost exclusively distributed in Tibeto-Burman populations ( Shi et al., 2008), and also found highly frequent in Sherpa (7.14% and 15.48%, respectively). Haplogroup O3a2c1a-M117, one of the three main sublineages of O3, accounts for about 16% of Han Chinese and also exhibits high frequencies in Tibeto- Burman populations Yan et al., 2011). In this study, O3a2c1a-M117 comprises nearly half of Sherpa people (45.24%). The frequencies of another two main components of Sino-Tibetan populations, O3a2c1*-M134 and O3a1c-002611 ( Yan et al., 2011), are negligible in Sherpa (1.19% and 0, respectively). It is particularly noteworthy that Central-South Asia and West Eurasia related haplogroups R1a1a-M17 and J-M304 ( Zhong et al., 2011) have also been detected at considerable frequencies in WSC populations, espe- cially R1a1a-M17, which contributes 11.90% of Sherpa. Figure 2(a) illustrates a PCA plot based on 68 populations, including the Sherpa people in this study and 67 reference populations retrieved from literature. Almost all the Tibeto- Burman populations, including Sherpa, cluster together in the middle left corner of the plot, which is accounted for by the extensive sharing of haplogroup D1-M15, D3-P99, and O3a2c1a-M117 among them. The middle and upper right corner depict the Indo-European, Dravidian and Austro-Asiatic popula- tions in the South Asian Subcontinent, due to the high frequency of haplogroup R, L, and H. The Altaic populations segregate intermediate between the East Asian and South Asian clusters. The Sherpa people slightly tend to deviate from the East Asian cluster owing to its considerable frequency of haplogroup ...
Context 2
... the results based on haplogroup frequency compari- sons could be misleading because of the quickly changing frequencies of the mtDNA lineages (Lu et al., 2013). A network analysis of individual lineages will most likely offer a better investigation of maternal relationships among the Sherpa and Himalayan populations. Haplogroup A4, C4a, and M9a comprise more than 60% of Sherpa samples, and the networks of those haplogroups were analyzed based on the HVS-I motif (Figure 4). In haplogroup A4, most haplotypes of Sherpa are shared with Tibeto-Burman, Altaic, and Han Chinese and clustered in the main clade of the network. The Indo-European samples of South Asian Subcontinent are scattered in the terminal nodes throughout the network (Figure 4a), indicating late emergence of A4 into those Indo-European populations. In the network of C4a, nearly all the Sherpa samples cluster together and form a big exclusive clade along with few Nepalese from Katmandu (Figure 4b). Those exclusive haplotypes might represent the ancient component of Sherpa. The initial C4a individuals of Sherpa might have undergone founder events or bottlenecks in their history, and then remained genetically isolated for a long period of time. In the network of M9a, about half Sherpa M9a samples share the root haplotypes with the main ancestral clade, other samples mainly cluster with Indo-European and Tibeto-Burman samples in the terminal small clades (Figure 4c). The star-like networks of M9a and its sublineages have clearly indicated the population expan- sion of those lineages in Tibeto-Burman populations. The M9a samples of Sherpa and Indo-European populations might probably be results of the expansion of M9a in the Tibet ...
Similar publications
The Tibetan terrier is considered to be one of the dog breeds descending from the most
ancient dogs. Due to geographic isolation and wide spread belief that selling of these dogs
would cause bad luck, the breed remained quite isolated over centuries. In the early 20iest of
the last century, the first couple was brought to Europe and the first litte...
Citations
... Genetic observations from matrilineal lineages demonstrated that Tibetans or Tibetan-related ancestors contributed considerably to the gene pool of Sherpa people [2,4,5]. A previous study of mitochondrial DNA (mtDNA) diversity on Sherpas reported considerable South Asian genetic components existing in Zhangmu Sherpas [6], but maternal lineages of other Sherpas living in Nepal and Tibet Autonomous Region of China revealed that matrilineal haplogroups with South Asian origin occurred in these studied Sherpas with a minor frequency [4]. Genetic findings based on Y-chromosomal single nucleotide polymorphisms (SNPs) showed that Sherpas shared most of their paternal lineages with indigenous Tibetans, as haplogroups D and O were their dominant founding paternal lineages [4]. ...
... The allele frequency distributions and corresponding forensic parameters of 57 A-InDels in the Dingjie Sherpas indicated that several InDels (such as rs10607699, rs145577149, and rs66477007, among others) were not polymorphic in the targeted Dingjie Sherpa, but the values of TDP and CPE obtained based on the pre-LD-pruned InDel panel and LD-pruned InDel panel demonstrated that the AGCU InDel 60 kit is suitable for forensic individual identification in the Dingjie Sherpas. We should note that geographically different population data and forensic parameter estimation in geographically different Sherpa people should be conducted to explore their homogeneity or heterogeneity of forensic features and population genetic structures, as some population substructures were identified via the mtDNA evidence [5,6]. Recent genetic analyses based on the whole-genome sequencing data or genome-wide array-based SNP data also showed the significant genetic differentiation between lowland East Asians and highland East Asians, and also identified population stratification within geographically different ethnic groups [9,48,61,65]. ...
Sherpa people, one of the high-altitude hypoxic adaptive populations, mainly reside in Nepal and the southern Tibet Autonomous Region. The genetic origin and detailed evolutionary profiles of Sherpas remain to be further explored and comprehensively characterized. Here we analyzed the newly-generated InDel genotype data from 628 Dingjie Sherpas by merging with 4222 worldwide InDel profiles and collected genome-wide SNP data (approximately 600 K SNPs) from 1612 individuals in 191 modern and ancient populations to explore and reconstruct the fine-scale genetic structure of Sherpas and their relationships with nearby modern and ancient East Asians based on the shared alleles and haplotypes. The forensic parameters of 57 autosomal InDels (A-InDels) included in our used new-generation InDel amplification system showed that this focused InDel panel is informative and polymorphic in Dingjie Sherpas, suggesting that it can be used as the supplementary tool for forensic personal identification and parentage testing in Dingjie Sherpas. Descriptive findings from the PCA, ADMIXTURE, and TreeMix-based phylogenies suggested that studied Nepal Sherpas showed excess allele sharing with neighboring Tibeto-Burman Tibetans. Furthermore, patterns of allele sharing in f-statistics demonstrated that Nepal Sherpas had a different evolutionary history compared with their neighbors from Nepal (Newar and Gurung) but showed genetic similarity with 2700-year-old Chokhopani and modern Tibet Tibetans. QpAdm/qpGraph-based admixture sources and models further showed that Sherpas, core Tibetans, and Chokhopani formed one clade, which could be fitted as having the main ancestry from late Neolithic Qijia millet farmers and other deep ancestries from early Asians. Chromosome painting profiles and shared IBD fragments inferred from fineSTRUCTURE and ChromoPainter not only confirmed the abovementioned genomic affinity patterns but also revealed the fine-scale genetic microstructures among Sino-Tibetan speakers. Finally, natural-selection signals revealed via iHS, nSL and iHH12 showed natural selection signatures associated with disease susceptibility in Sherpas. Generally, we provided the comprehensive landscape of admixture and evolutionary history of Sherpa people based on the shared alleles and haplotypes from the InDel-based genotype data and high-density genome-wide SNP data. The more detailed genetic landscape of Sherpa people should be further confirmed and characterized via ancient genomes or single-molecule real-time sequencing technology.
... Some studies have suggested that the Himalayan border formed a natural barrier for migratory animals including humans (Papiha et al. 1989;Aggarwal et al. 2003;Gayden et al. 2007). However, there is also evidence supporting the Himalaya as a corridor for human migrations (Debnath et al. 2011;Wang et al. 2012;Bhandari et al. 2015;Kang et al. 2016). These studies were mainly based on a limited number of samples as well as low-resolution markers. ...
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.
... In our estimation, Sherpas show 3.5% (0.3 ± 1.2% for SHP.Khumbu and 6.2 ± 5.0% for SHP.Zhangmu) South Asian ancestry, with proportions ranging from 0 to 20% across individuals. This estimation is consistent with results from mtDNA investigations [18,56], in which proportions were reported to be between 0.34 and 2.53% in Nepalese Sherpa and 8 and 17% in Chinese Sherpa. ...
Background: The genetic relationships reported by recent studies between Sherpas and Tibetans are controversial. To gain insights into the population history and the genetic basis of high-altitude adaptation of the two groups, we analyzed genome-wide data in 111 Sherpas (Tibet and Nepal) and 177 Tibetans (Tibet and Qinghai), together with available data from present-day human populations.
Results: Sherpas and Tibetans show considerable genetic differences and can be distinguished as two distinct groups, even though the divergence between them (~3200–11,300 years ago) is much later than that between Han Chinese and either of the two groups (~6200–16,000 years ago). Sub-population structures exist in both Sherpas and Tibetans, corresponding to geographical or linguistic groups. Differentiation of genetic variants between Sherpas and Tibetans associated with adaptation to either high-altitude or ultraviolet radiation were identified and validated by genotyping additional Sherpa and Tibetan samples.
Conclusions: Our analyses indicate that both Sherpas and Tibetans are admixed populations, but the findings do not support the previous hypothesis that Tibetans derive their ancestry from Sherpas and Han Chinese. Compared to Tibetans, Sherpas show higher levels of South Asian ancestry, while Tibetans show higher levels of East Asian and Central Asian/Siberian ancestry. We propose a new model to elucidate the differentiated demographic histories and local adaptations of Sherpas and Tibetans.
... The genetic relics of the Late Paleolithic ancestors of Tibeto-Burman populations have also been reported, such as haplogroup M62 5 . Y chromosome suggested Tibeto-Burman populations are an admixture of the northward migrations of East Asian initial settlers with haplogroup D-M175 in the Late Paleolithic age, and the southward Di-Qiang people with dominant haplogroup O3a2c1*-M134 and O3a2c1a-M117 in the Neolithic Age [6][7][8] . Haplogroup O3a2c1*-M134 and O3a2c1a-M117 are also characteristic lineages of Han Chinese, comprising 11.4% and 16.3%, respectively 9,10 . ...
The origin and diversification of Sino-Tibetan speaking populations have been long-standing hot debates. However, the limited genetic information of Tibetan populations keeps this topic far from clear. In the present study, we genotyped 15 forensic autosomal short tandem repeats (STRs) from 803 unrelated Tibetan individuals from Gansu Province (635 from Gannan and 168 from Tianzhu) in northwest China. We combined these data with published dataset to infer a detailed population affinities and genetic substructure of Sino-Tibetan populations. Our results revealed Tibetan populations in Gannan and Tianzhu are genetically very similar with Tibetans from other regions. The Tibetans in Tianzhu have received more genetic influence from surrounding lowland populations. The genetic structure of Sino-Tibetan populations was strongly correlated with linguistic affiliations. Although the among-population variances are relatively small, the genetic components for Tibetan, Lolo-Burmese, and Han Chinese were quite distinctive, especially for the Deng, Nu, and Derung of Lolo-Burmese. Han Chinese but not Tibetans are suggested to share substantial genetic component with southern natives, such as Tai-Kadai and Hmong-Mien speaking populations, and with other lowland East Asian populations, which implies there might be extensive gene flow between those lowland groups and Han Chinese after Han Chinese were separated from Tibetans. The dataset generated in present study is also valuable for forensic identification and paternity tests in China.
... The proportion of this 'high altitude' ancestral component was highly enriched in the Sherpa while the Tibetans exhibited admixture of this, and an East Asian component enriched in the contemporary Han Chinese. A recent study using mtDNA and Y-chromosome markers also revealed strong affinities between the Sherpa and Tibetans [16]. The authors alluded to homogeneity of particular haplogroups within the Sherpa suggesting a founder effect from a small number of migrants from a Tibeto-Burman source population [16]. ...
... A recent study using mtDNA and Y-chromosome markers also revealed strong affinities between the Sherpa and Tibetans [16]. The authors alluded to homogeneity of particular haplogroups within the Sherpa suggesting a founder effect from a small number of migrants from a Tibeto-Burman source population [16]. Despite in depth analysis of the genetic origins of the Sherpa, there has been no investigation into the genetic structure of the Sherpa in the context of their current residence in Nepal. ...
... We believe the elevated IBD16 in the Sherpa reflects a history of population isolation due to the remote location of high altitude villages in eastern Nepal and is also suggestive of founder effect [30]. This can be supported by recent findings identifying internal homogeneity for particular mtDNA and Y chromosome haplogroups during the origin of the Sherpa [16,31,32]. ...
Background
We set out to describe the fine-scale population structure across the Eastern region of Nepal. To date there is relatively little known about the genetic structure of the Sherpa residing in Nepal and their genetic relationship with the Nepalese. We assembled dense genotype data from a total of 1245 individuals representing Nepal and a variety of different populations resident across the greater Himalayan region including Tibet, China, India, Pakistan, Kazakhstan, Uzbekistan, Tajikistan and Kirghizstan. We performed analysis of principal components, admixture and homozygosity.
Results
We identified clear substructure across populations resident in the Himalayan arc, with genetic structure broadly mirroring geographical features of the region. Ethnic subgroups within Nepal show distinct genetic structure, on both admixture and principal component analysis. We detected differential proportions of ancestry from northern Himalayan populations across Nepalese subgroups, with the Nepalese Rai, Magar and Tamang carrying the greatest proportions of Tibetan ancestry.
Conclusions
We show that populations dwelling on the Himalayan plateau have had a clear impact on the Northern Indian gene pool. We illustrate how the Sherpa are a remarkably isolated population, with little gene flow from surrounding Nepalese populations.
Electronic supplementary material
The online version of this article (doi:10.1186/s12864-016-3469-5) contains supplementary material, which is available to authorized users.
Sherpas living around the Himalayas are renowned as high-altitude mountain climbers but when and where the Sherpa people originated from remains contentious. In this study, we collected DNA samples from 582 Sherpas living in Nepal and Tibet Autonomous Region of China to study the genetic diversity of both their maternal (mitochondrial DNA) and paternal (Y chromosome) lineages. Analysis showed that Sherpas share most of their paternal and maternal lineages with indigenous Tibetans, representing a recently derived sub-lineage. The estimated ages of two Sherpa-specific mtDNA sub-haplogroups (C4a3b1 and A15c1) indicate a shallow genetic divergence between Sherpas and Tibetans less than 1,500 years ago. These findings reject the previous theory that Sherpa and Han Chinese served as dual ancestral populations of Tibetans, and conversely suggest that Tibetans are the ancestral populations of the Sherpas, whose adaptive traits for high altitude were recently inherited from their ancestors in Tibet.
