Genetics and Genomics of Human Population History

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Population and Evolutionary Genetics and Genomics".

Deadline for manuscript submissions: 20 March 2025 | Viewed by 4892

Special Issue Editor


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Guest Editor
1. Asian School of the Environment, Nanyang Technological University, Singapore
2. Singapore Centre for Environmental Life Sciences Engineering, Nanyang Technological University, Singapore
Interests: population genomics; evolutionary biology; human population history; evolution of human immune genes; conservation genetics

Special Issue Information

Dear Colleagues,

In the rapidly advancing era of personalized medicine, understanding the genetics and genomics of human population history is of paramount importance. The distribution of human genetic variations among diverse populations is intricately shaped by demographic events and their adaptation to varied environments and distinct lifestyles. The elucidation of population history serves as a crucial foundation for the development of personalized medicine, offering insights into the genetic basis of disease susceptibility and treatment response.

Despite significant advances in the accumulation of human whole-genome sequencing data in the field, there remain gaps in the knowledge, particularly concerning understudied populations within the broader human population and their complicate demographic histories. This Special Issue aims to address these gaps by compiling diverse population genetic studies. By delving into the genetic makeup of various ethnic groups, we seek to unveil the untold stories of human population history, contributing to a more comprehensive understanding of genetic diversity and evolution.

The manuscripts included in this Special Issue will explore a wide range of human population genetic studies. Researchers are invited to contribute diverse studies that illuminate the genetic diversity and adaptations within and between populations, providing an essential foundation for the development of personalized medicine strategies that are inclusive and effective across a spectrum of human diversity.

Dr. Hie Lim Kim
Guest Editor

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Keywords

  • humans population history
  • genetic diversity
  • genetic adaptation
  • diverse populations
  • demography inference

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Published Papers (2 papers)

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Research

22 pages, 11986 KiB  
Article
The Finnic Peoples of Russia: Genetic Structure Inferred from Genome-Wide and Y-Chromosome Data
by Anastasia Agdzhoyan, Georgy Ponomarev, Vladimir Pylev, Zhaneta Autleva (Kagazezheva), Igor Gorin, Igor Evsyukov, Elvira Pocheshkhova, Sergey Koshel, Viacheslav Kuleshov, Dmitry Adamov and Natalia Kuznetsova
Genes 2024, 15(12), 1610; https://doi.org/10.3390/genes15121610 - 17 Dec 2024
Viewed by 3222
Abstract
Background: Eastern Finnic populations, including Karelians, Veps, Votes, Ingrians, and Ingrian Finns, are a significant component of the history of Finnic populations, which have developed over ~3 kya. Yet, these groups remain understudied from a genetic point of view. Methods: In this work, [...] Read more.
Background: Eastern Finnic populations, including Karelians, Veps, Votes, Ingrians, and Ingrian Finns, are a significant component of the history of Finnic populations, which have developed over ~3 kya. Yet, these groups remain understudied from a genetic point of view. Methods: In this work, we explore the gene pools of Karelians (Northern, Tver, Ludic, and Livvi), Veps, Ingrians, Votes, and Ingrian Finns using Y-chromosome markers (N = 357) and genome-wide autosomes (N = 67) and in comparison with selected Russians populations of the area (N = 763). The data are analyzed using statistical, bioinformatic, and cartographic methods. Results: The autosomal gene pool of Eastern Finnic populations can be divided into two large categories based on the results of the PCA and ADMIXTURE modeling: (a) “Karelia”: Veps, Northern, Ludic, Livvi, and Tver Karelians; (b) “Ingria”: Ingrians, Votes, Ingrian Finns. The Y-chromosomal gene pool of Baltic Finns is more diverse and is composed of four genetic components. The “Northern” component prevails in Northern Karelians and Ingrian Finns, the “Karelian” in Livvi, Ludic, and Tver Karelians, the “Ingrian-Veps” in Ingrians and Veps (a heterogeneous cluster occupying an intermediate position between the “Northern” and the “Karelian” ones), and the “Southern” in Votes. Moreover, our phylogeographic analysis has found that the Y-haplogroup N3a4-Z1927 carriers are frequent among most Eastern Finnic populations, as well as among some Northern Russian and Central Russian populations. Conclusions: The autosomal clustering reflects the major areal groupings of the populations in question, while the Y-chromosomal gene pool correlates with the known history of these groups. The overlap of the four Y-chromosomal patterns may reflect the eastern part of the homeland of the Proto-Finnic gene pool. The carriers of the Y-haplogroup N3a4-Z1927, frequent in the sample, had a common ancestor at ~2.4 kya, but the active spread of N3a4-Z1927 happened only at ~1.7–2 kya, during the “golden” age of the Proto-Finnic culture (the archaeological period of the “typical” Tarand graves). A heterogeneous Y-chromosomal cluster containing Ingrians, Veps, and Northern Russian populations, should be further studied. Full article
(This article belongs to the Special Issue Genetics and Genomics of Human Population History)
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16 pages, 2715 KiB  
Article
Genetic Diversity and Forensic Utility of X-STR Loci in Punjabi and Kashmiri Populations: Insights into Population Structure and Ancestry
by Muhammad Farhan Khan, Allah Rakha, Anam Munawar, Shahid Nazir, Arman Khan, Muhammad Adnan Khan, Munir Ahmad, Chuan-Chao Wang and Atif Adnan
Genes 2024, 15(11), 1384; https://doi.org/10.3390/genes15111384 - 28 Oct 2024
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Abstract
Background: X-chromosomal short tandem repeats (X-STRs) are crucial in forensic applications, particularly in complex kinship cases, and play an important role in population genetics. However, there is limited data on X-STR variation in Pakistani populations, especially among ethnic groups like Kashmiri and Punjabi. [...] Read more.
Background: X-chromosomal short tandem repeats (X-STRs) are crucial in forensic applications, particularly in complex kinship cases, and play an important role in population genetics. However, there is limited data on X-STR variation in Pakistani populations, especially among ethnic groups like Kashmiri and Punjabi. Methodology: This study investigates the forensic and genetic properties of 12 X-STRs from the Investigator Argus X-12 Kit (QIAGEN, Hilden, Germany) in 125 families (75 Kashmiri, 50 Punjabi) from Azad Jammu and Kashmir and Punjab, Pakistan. Results: In both populations, a total of 222 alleles were identified across the 12 X-STR loci (Punjabi 171 alleles, Kashmiri 161 alleles), with allele frequencies ranging from 0.0056 to 0.3033. DXS10148 was the most polymorphic locus with 28 alleles, while DXS7132 was the least polymorphic with 9 alleles. Most loci were in linkage equilibrium, except for the DXS10135/DXS10148 pair in males, with no loci exhibiting significant linkage disequilibrium in females. The combined power of discrimination was 0.999 999 9977 for Kashmiri males, 0.999 999 999 999 9746 for Kashmiri females, and 0.999 999 999 999 9781 for Punjabi females. In Kashmiri males, 34, 31, 28, and 32 haplotypes were observed across the four linkage groups (LG1, LG2, LG3, and LG4), though these groups did not form stable haplotypes, as indicated by Linkage Equilibrium within and significant Linkage Disequilibrium between groups. Conclusions: Genetic structure analysis using Principal Component Analysis and STRUCTURE revealed distinct clustering patterns for the Kashmiri and Punjabi populations, indicating unique genetic backgrounds and ancestry influences, particularly distinguishing them from East Asian populations. This study provides a comprehensive analysis of X-STR variation in Punjabi and Kashmiri populations, offering valuable insights for forensic and population genetic studies. Full article
(This article belongs to the Special Issue Genetics and Genomics of Human Population History)
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