scholarly journals Genomic history and forensic characteristics of Sherpa highlanders on the Tibetan Plateau inferred from high-resolution genome-wide InDels and SNPs

2021 ◽  
Author(s):  
Mengge Wang ◽  
Weian Du ◽  
Renkuan Tang ◽  
Yan Liu ◽  
Xing Zou ◽  
...  
Keyword(s):  
Evolutionary History ◽  
Personal Identification ◽  
The Tibetan Plateau ◽  
Allele Sharing ◽  
Fine Scale ◽  
East Asians ◽  
Snp Data ◽  
Genome Wide ◽  
Tibet Autonomous Region ◽  
Shared Alleles

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 Sherpa people by merging with 4222 worldwide InDel profiles and collected genome-wide SNP data (approximately 600K SNPs) from 3324 individuals in 382 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 updated InDel panel is informative and polymorphic in Sherpas, suggesting that it can be used as the supplementary tool for forensic personal identification and parentage testing in the highland East Asians. Descriptive findings from the PCA, ADMIXTURE and TreeMix-based phylogeny suggested that Sherpas showed excess allele sharing with neighboring Tibeto-Burman Tibetans. Furthermore, patterns of allele sharing in f-statistics demonstrated that Sherpa people 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 Sherpa, 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 microstructures among Sino-Tibetan speakers. Finally, natural-selection signals revealed via iHS, nSL, and iHH12 showed signatures associated with disease susceptibility in Sherpa people. Generally, we provided the comprehensive landscape of admixture and evolutionary history of Sherpa people based on the shared alleles and haplotypes from the low-density forensic markers 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.

scholarly journals An improved tree-based statistical method for genome-wide association study

2018 ◽  
Author(s):  
Dwueng-Chwuan Jhwueng
Keyword(s):  
Association Study ◽  
Evolutionary History ◽  
Genome Wide Association Study ◽  
Comparative Method ◽  
Genome Wide Association ◽  
Data Set ◽  
Phylogenetic Comparative Method ◽  
Snp Data ◽  
Genome Wide ◽  
Evolutionary Relatedness

In genetic studies, quantitative traits are found possibly associated with genetic data. Due to advanced sequencing technology, many methods have been proposed in genome wide association study (GWAS) to search the single nucleotide polymorphism (SNP) associated with the traits. Currently several methods that account for the evolutionary relatedness among individuals were developed. When comparing with conventional methods without evolutionary relatedness among individuals, tree based methods are found to have better performance when the population structure increases. In this work, we extend a couple of methods in previous studies by varying the magnitude of relatedness. The magnitude of relatedness of the evolutionary history is controlled by an Ornstein-Uhlenbeck (OU) process through its parameters. Our method combines a pertinent process and phylogenetic comparative method where the incorporated evolutionary history is built by SNP data. We perform simulation as well as analyze drosophila longevity data set.

scholarly journals An improved tree-based statistical method for genome-wide association study

2018 ◽  
Author(s):  
Dwueng-Chwuan Jhwueng
Keyword(s):  
Association Study ◽  
Evolutionary History ◽  
Genome Wide Association Study ◽  
Comparative Method ◽  
Genome Wide Association ◽  
Data Set ◽  
Phylogenetic Comparative Method ◽  
Snp Data ◽  
Genome Wide ◽  
Evolutionary Relatedness

In genetic studies, quantitative traits are found possibly associated with genetic data. Due to advanced sequencing technology, many methods have been proposed in genome wide association study (GWAS) to search the single nucleotide polymorphism (SNP) associated with the traits. Currently several methods that account for the evolutionary relatedness among individuals were developed. When comparing with conventional methods without evolutionary relatedness among individuals, tree based methods are found to have better performance when the population structure increases. In this work, we extend a couple of methods in previous studies by varying the magnitude of relatedness. The magnitude of relatedness of the evolutionary history is controlled by an Ornstein-Uhlenbeck (OU) process through its parameters. Our method combines a pertinent process and phylogenetic comparative method where the incorporated evolutionary history is built by SNP data. We perform simulation as well as analyze drosophila longevity data set.

scholarly journals An improved tree-based statistical method for genome-wide association study

2018 ◽  
Author(s):  
Dwueng-Chwuan Jhwueng
Keyword(s):  
Association Study ◽  
Evolutionary History ◽  
Genome Wide Association Study ◽  
Comparative Method ◽  
Genome Wide Association ◽  
Data Set ◽  
Phylogenetic Comparative Method ◽  
Snp Data ◽  
Genome Wide ◽  
Evolutionary Relatedness

In genetic studies, quantitative traits are found possibly associated with genetic data. Due to advanced sequencing technology, many methods have been proposed in genome wide association study (GWAS) to search the single nucleotide polymorphism (SNP) associated with the traits. Currently several methods that account for the evolutionary relatedness among individuals were developed. When comparing with conventional methods without evolutionary relatedness among individuals, tree based methods are found to have better performance when the population structure increases. In this work, we extend a couple of methods in previous studies by varying the magnitude of relatedness. The magnitude of relatedness of the evolutionary history is controlled by an Ornstein-Uhlenbeck (OU) process through its parameters. Our method combines a pertinent process and phylogenetic comparative method where the incorporated evolutionary history is built by SNP data. We perform simulation as well as analyze drosophila longevity data set.

scholarly journals Fine-Scale Genetic Structure and Natural Selection Signatures of Southwestern Hans Inferred From Patterns of Genome-Wide Allele, Haplotype, and Haplogroup Lineages

2021 ◽  
Vol 12 ◽  
Author(s):  
Mengge Wang ◽  
Didi Yuan ◽  
Xing Zou ◽  
Zheng Wang ◽  
Hui-Yuan Yeh ◽  
...  
Keyword(s):  
Natural Selection ◽  
Yellow River ◽  
Han Chinese ◽  
Guizhou Province ◽  
Historical Period ◽  
Fine Scale ◽  
Selection Signatures ◽  
East Asians ◽  
Genome Wide ◽  
History Of

The evolutionary and admixture history of Han Chinese have been widely discussed via traditional autosomal and uniparental genetic markers [e.g., short tandem repeats, low-density single nucleotide polymorphisms). However, their fine-scale genetic landscapes (admixture scenarios and natural selection signatures) based on the high-density allele/haplotype sharing patterns have not been deeply characterized. Here, we collected and generated genome-wide data of 50 Han Chinese individuals from four populations in Guizhou Province, one of the most ethnolinguistically diverse regions, and merged it with over 3,000 publicly available modern and ancient Eurasians to describe the genetic origin and population admixture history of Guizhou Hans and their neighbors. PCA and ADMIXTURE results showed that the studied four populations were homogeneous and grouped closely to central East Asians. Genetic homogeneity within Guizhou populations was further confirmed via the observed strong genetic affinity with inland Hmong-Mien people through the observed genetic clade in Fst and outgroup f3/f4-statistics. qpGraph-based phylogenies and f4-based demographic models illuminated that Guizhou Hans were well fitted via the admixture of ancient Yellow River Millet farmers related to Lajia people and southern Yangtze River farmers related to Hanben people. Further ChromoPainter-based chromosome painting profiles and GLOBETROTTER-based admixture signatures confirmed the two best source matches for southwestern Hans, respectively, from northern Shaanxi Hans and southern indigenes with variable mixture proportions in the historical period. Further three-way admixture models revealed larger genetic contributions from coastal southern East Asians into Guizhou Hans compared with the proposed inland ancient source from mainland Southeast Asia. We also identified candidate loci (e.g., MTUS2, NOTCH4, EDAR, ADH1B, and ABCG2) with strong natural selection signatures in Guizhou Hans via iHS, nSL, and ihh, which were associated with the susceptibility of the multiple complex diseases, morphology formation, alcohol and lipid metabolism. Generally, we provided a case and ideal strategy to reconstruct the detailed demographic evolutionary history of Guizhou Hans, which provided new insights into the fine-scale genomic formation of one ethnolinguistically specific targeted population from the comprehensive perspectives of the shared unlinked alleles, linked haplotypes, and paternal and maternal lineages.

scholarly journals Genome-wide SNPs redefines species boundaries and conservation units in the freshwater mussel genus Cyprogenia of North America

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Kyung Seok Kim ◽  
Kevin J. Roe
Keyword(s):  
Phylogenetic Analyses ◽  
Freshwater Mussel ◽  
Conservation Strategies ◽  
Nucleotide Polymorphisms ◽  
Conservation Units ◽  
Genetic Structuring ◽  
The North ◽  
Snp Data ◽  
Genome Wide ◽  
Significant Difference

AbstractDetailed information on species delineation and population genetic structure is a prerequisite for designing effective restoration and conservation strategies for imperiled organisms. Phylogenomic and population genomic analyses based on genome-wide double digest restriction-site associated DNA sequencing (ddRAD-Seq) data has identified three allopatric lineages in the North American freshwater mussel genus Cyprogenia. Cyprogenia stegaria is restricted to the Eastern Highlands and displays little genetic structuring within this region. However, two allopatric lineages of C. aberti in the Ozark and Ouachita highlands exhibit substantial levels (mean uncorrected FST = 0.368) of genetic differentiation and each warrants recognition as a distinct evolutionary lineage. Lineages of Cyprogenia in the Ouachita and Ozark highlands are further subdivided reflecting structuring at the level of river systems. Species tree inference and species delimitation in a Bayesian framework using single nucleotide polymorphisms (SNP) data supported results from phylogenetic analyses, and supports three species of Cyprogenia over the currently recognized two species. A comparison of SNPs generated from both destructively and non-destructively collected samples revealed no significant difference in the SNP error rate, quality and amount of ddRAD sequence reads, indicating that nondestructive or trace samples can be effectively utilized to generate SNP data for organisms for which destructive sampling is not permitted.

scholarly journals Genome-wide SNP data unravel the ancestry and signatures of divergent selection in Ghurrah pigs of India

2021 ◽  
pp. 104587
Author(s):  
Arnav Mehrotra ◽  
Bharat Bhushan ◽  
Karthikeyan A ◽  
Akansha Singh ◽  
Snehasmita Panda ◽  
...  
Keyword(s):  
Divergent Selection ◽  
Snp Data ◽  
Genome Wide

scholarly journals On the origin and diversification of Podolian cattle breeds: testing scenarios of European colonization using genome-wide SNP data

2021 ◽  
Vol 53 (1) ◽  
Author(s):  
Gabriele Senczuk ◽  
Salvatore Mastrangelo ◽  
Paolo Ajmone-Marsan ◽  
Zsolt Becskei ◽  
Paolo Colangelo ◽  
...  
Keyword(s):  
Genetic Diversity ◽  
Diversity Indices ◽  
Melting Pot ◽  
Cattle Breeds ◽  
Snp Data ◽  
Early Migration ◽  
Genome Wide ◽  
European Colonization ◽  
Approximate Bayesian ◽  
European Cattle

Abstract Background During the Neolithic expansion, cattle accompanied humans and spread from their domestication centres to colonize the ancient world. In addition, European cattle occasionally intermingled with both indicine cattle and local aurochs resulting in an exclusive pattern of genetic diversity. Among the most ancient European cattle are breeds that belong to the so-called Podolian trunk, the history of which is still not well established. Here, we used genome-wide single nucleotide polymorphism (SNP) data on 806 individuals belonging to 36 breeds to reconstruct the origin and diversification of Podolian cattle and to provide a reliable scenario of the European colonization, through an approximate Bayesian computation random forest (ABC-RF) approach. Results Our results indicate that European Podolian cattle display higher values of genetic diversity indices than both African taurine and Asian indicine breeds. Clustering analyses show that Podolian breeds share close genomic relationships, which suggests a likely common genetic ancestry. Among the simulated and tested scenarios of the colonization of Europe from taurine cattle, the greatest support was obtained for the model assuming at least two waves of diffusion. Time estimates are in line with an early migration from the domestication centre of non-Podolian taurine breeds followed by a secondary migration of Podolian breeds. The best fitting model also suggests that the Italian Podolian breeds are the result of admixture between different genomic pools. Conclusions This comprehensive dataset that includes most of the autochthonous cattle breeds belonging to the so-called Podolian trunk allowed us not only to shed light onto the origin and diversification of this group of cattle, but also to gain new insights into the diffusion of European cattle. The most well-supported scenario of colonization points to two main waves of migrations: with one that occurred alongside with the Neolithic human expansion and gave rise to the non-Podolian taurine breeds, and a more recent one that favoured the diffusion of European Podolian. In this process, we highlight the importance of both the Mediterranean and Danube routes in promoting European cattle colonization. Moreover, we identified admixture as a driver of diversification in Italy, which could represent a melting pot for Podolian cattle.

scholarly journals Genome-wide SNP data of Izumo and Makurazaki populations support inner-dual structure model for origin of Yamato people

2021 ◽  
Author(s):  
Timothy Jinam ◽  
Yosuke Kawai ◽  
Yoichiro Kamatani ◽  
Shunro Sonoda ◽  
Kanro Makisumi ◽  
...  
Keyword(s):  
Phylogenetic Network ◽  
Principal Component ◽  
Human Populations ◽  
Structure Model ◽  
Rice Farming ◽  
Asian Continent ◽  
Dual Structure ◽  
Snp Data ◽  
Genome Wide ◽  
Kagoshima Prefecture

AbstractThe “Dual Structure” model on the formation of the modern Japanese population assumes that the indigenous hunter-gathering population (symbolized as Jomon people) admixed with rice-farming population (symbolized as Yayoi people) who migrated from the Asian continent after the Yayoi period started. The Jomon component remained high both in Ainu and Okinawa people who mainly reside in northern and southern Japan, respectively, while the Yayoi component is higher in the mainland Japanese (Yamato people). The model has been well supported by genetic data, but the Yamato population was mostly represented by people from Tokyo area. We generated new genome-wide SNP data using Japonica Array for 45 individuals in Izumo City of Shimane Prefecture and for 72 individuals in Makurazaki City of Kagoshima Prefecture in Southern Kyushu, and compared these data with those of other human populations in East Asia, including BioBank Japan data. Using principal component analysis, phylogenetic network, and f4 tests, we found that Izumo, Makurazaki, and Tohoku populations are slightly differentiated from Kanto (including Tokyo), Tokai, and Kinki regions. These results suggest the substructure within Mainland Japanese maybe caused by multiple migration events from the Asian continent following the Jomon period, and we propose a modified version of “Dual Structure” model called the “Inner-Dual Structure” model.

Sign in / Sign up

Export Citation Format

Share Document