Human Population Genetics Research Papers (original) (raw)

2025

Archaeology and the branch of population genetics focusing on the human past have historically lived parallel lives, often having complicated encounters when it came to unravelling the origins and evolution of Homo sapiens. These interactions were proven invaluable to obtain a deeper and more complete understanding of our past. At the same time, they sometimes uncovered biases and misinterpretations, with serious consequences for our understanding of data, methods and, most importantly, the history of our species. Cavalli-Sforza pioneered a real multidisciplinary approach, bridging population genetics and statistics with archaeology, human origins, and other fields in the humanities, inspiring researchers from these fields and blazing a trail for today's successful interactions and collaborations. His legacy showed that these interdisciplinary approaches are possible and of vital importance, and exposed areas that still need significant development today.

2025, Revista Peruana de Biología

Los polimorfismos del ADN mitocondrial son herramientas en el estudio comparativo de poblaciones modernas y antiguas. Entre los más usados están los haplotipos mitocondriales basados en RFLP (polimorfismo de longitud de fragmentos de restricción) y un sistema de inserción /deleción. El presente estudio establece la frecuencia de estos haplotipos y compara un total de 144 individuos representativos de las islas Taquile y Amantaní (lengua quechua) y de las islas de Los Uros y Anapia (lengua aymara) del lago Titicaca, Perú. Nuestros resultados revelan la predominancia del haplotipo B1: 100% en Taquile (n=57); 88,6% en Amantaní (n=35); 75% en Los Uros (n=28) y 87,5% en Anapia (n=24), siendo las frecuencias más altas registradas en el mundo. Otros haplotipos se observan en menor proporción: 17,9% de A2 y 7,1% de D1 en Los Uros; 11,4% de la variante C1 en Amantaní; 4,2% de cada haplotipo C1, C2 y D1 en Anapia. La alta frecuencia de B1 indica que las poblaciones de Taquile, Amantaní y Anap...

2025, Journal of Molecular Evolution

Molecular genetic data contain information on the history of populations. Evidence of prehistoric demographic expansions has been detected in the mitochondrial diversity of most human populations and in a Y-chromosome STR analysis, but not in a previous study of 11 Y-chromosome SNPs in Europeans. In this paper, we show that mismatch distributions and tests of mutation/drift equilibrium based on up to 166 Y-chromosome SNPs, in 46 samples from all continents, also fail to support an increase of the male effective population size. Computer simulations show that the low nuclear versus mitochondrial mutation rates cannot explain these results. However, ascertainment bias, i.e., when only highly variable SNP sites are typed, may be concealing any Y SNPs evidence for a recent, but not an ancient, increase in male effective population sizes. The results of our SNP analyses can be reconciled with the expansion of male effective population sizes inferred from STR loci, and with mitochondrial evidence, by admitting that humans were essentially polygynous during much of their history. As a consequence, until recently only a few men may have contributed a large fraction of the Y-chromosome pool at every generation. The number of breeding males may have increased, and the variance of their reproductive success may have decreased, through a recent shift from polygyny to monogamy, which is supported by ethnological data and possibly accompanied the shift from mobile to sedentary communities.

2025, Science

Literary and archaeological sources have preserved a rich history of Southern Europe and West Asia since the Bronze Age that can be complemented by genetics. Mycenaean period elites in Greece did not differ from the general population and included both people with some steppe ancestry and others, like the Griffin Warrior, without it. Similarly, people in the central area of the Urartian Kingdom around Lake Van lacked the steppe ancestry characteristic of the kingdom’s northern provinces. Anatolia exhibited extraordinary continuity down to the Roman and Byzantine periods, with its people serving as the demographic core of much of the Roman Empire, including the city of Rome itself. During medieval times, migrations associated with Slavic and Turkic speakers profoundly affected the region.

2025, Scientific Reports

In this study, we present new ancient DNA data from prehistoric and historic populations of the Iranian Plateau. By analysing 50 samples from nine archaeological sites across Iran, we report 23 newly sequenced mitogenomes and 13 nuclear genomes, spanning 4700 BCE to 1300 CE. We integrate an extensive reference sample set of previously published ancient DNA datasets from Western and South-Central Asia, enhancing our understanding of genetic continuity and diversity within ancient Iranian populations. A new Early Chalcolithic sample, predating all other Chalcolithic genomes from Iran, demonstrates mostly Early Neolithic Iranian genetic ancestry. This finding reflects long-term cultural and biological continuity in and around the Zagros area, alongside evidence of some western genetic influence. Our sample selection prioritizes northern Iran, with a particular focus on the Achaemenid, Parthian, and Sassanid periods (355 BCE–460 CE). The genetic profiles of historical samples from this region position them as intermediates on an east-west genetic cline across the Persian Plateau. They also exhibit strong connections to local and South-Central Asian Bronze Age populations, underscoring enduring genetic connections across these regions. Diachronic analyses of uniparental lineages on the Iranian Plateau further highlight population stability from prehistoric to modern times.

2025, Science

2025, Forensic Science International: Genetics

Population: The Iberian Peninsula, which covers 582,860 km 2 , is a crucial part of the Mediterranean space and it has played a decisive role in the peopling of Europe. It is separated (14 km) from Africa by the Strait of Gibraltar, and it is geographically distant from where the two most important events in recent human evolution occurred: the out of Africa migration of ''modern'' Homo sapiens through the Levant, and the emergence and diffusion of agriculture. Andalusia, the wide region (87,268 km 2 ) of southern Spain, was densely populated from very ancient times. It harbors a long, complex history so its autochthonous population represents an appropriate subject for detailed studies of genetic structure to understand peopling processes in the Mediterranean, and in the Iberian Peninsula, in particular. Huelva is the western-most Andalusian province and borders with Portugal; Granada province is located just on the eastern side of the region (Fig. ). Both territories, separated by a distance of around 300 km are located along the Andalusian coastal fringe. Huelva and Granada show a very rich and differentiated history from prehistoric times. People from diverse cultures and origins settled there, including Phoenicians, Greeks, Carthaginians, Romans, Visigoths, Arabs and Berbers. The samples (N = 347) were from healthy, unrelated, autochthonous individuals from Huelva (N = 167) and Granada (N = 180) provinces. All the sampled subjects had parents and all grandparents born in the respective Huelva and Granada provinces. Blood samples were collected by a group of doctors and nurses accompanied by researchers (RC and BA) from Universidad Complutense of Madrid. All donors were informed about the aims of this study and full informed consent was obtained from all participants. The geographic location of each sampling locality is shown in Fig. . Part of these samples (those belonging to Huelva province) have been previously typed for autosomal STRs . Extraction: Genomic DNA was isolated from blood samples (taken on EDTA tubes) using a standard proteinase-K digestion, followed by phenol-chloroform extraction and ethanol precipitation.

2025, Human Population Genetics and Genomics

2025

Diesem Bericht über die im Jahre 2006 aufgestellten Vogeltaxa liegt erneut eine umfangreiche Literaturrecherche zugrunde. Uns sind die Beschreibungen von drei neuen Gattungen, sieben neuen Arten und neun neuen Unterarten bekannt geworden. Für eine Gattung musste ein Ersatzname eingeführt werden. Neue Gattungen wurden für zwei neuweltliche und eine asiatische Sperlingsvogelgruppen aufgestellt, der Ersatzname bezieht sich auf eine neotropische Papageienart. Auf Artgruppenniveau stehen 7 Non-Passeres (3 Arten/4 Unterarten, darunter jeweils zwei neue Papageienarten bzw. -unterarten) neun Passeriformes (4/5) gegenüber. Auch in diesem Jahr wurden im hier behandelten Berichtszeitraum die meisten neuen Taxa aus Südamerika beschrieben (2/5), gefolgt von Asien (2/1), Afrika einschließlich der Maskarenen (1/1), Ozeanien (1/0) und der Paläarktis (0/2); eine der neuen Arten basiert auf einem alten Museumsbalg unbekannter Herkunft. Die neuen Arten gehören zu den Papageien (S-Amerika, Philippinen)...

2025, Genes & Immunity

The rapid expansion of coronavirus SARS-CoV-2 has impacted various ethnic groups all over the world. The burden of infectious diseases including COVID-19 are generally reported to be higher for the Indigenous people. The historical knowledge have also suggested that the indigenous populations suffer more than the general populations in the pandemic. Recently, it has been reported that the indigenous groups of Brazil have been massively affected by COVID-19. Series of studies have shown that many of the indigenous communities reached at the verge of extinction due to this pandemic. Importantly, South Asia also has several indigenous and smaller communities, that are living in isolation. Till date, despite the two consecutive waves in India, there is no report on the impact of COVID-19 for indigenous tribes. Since smaller populations experiencing drift may have greater risk of such pandemic, we have analysed Runs of Homozygosity (ROH) among South Asian populations and identified sever...

2025, Veterinary Clinical Pathology The Quarterly Scientific Journal

2025, Āsīb/shināsī-i Darmāngāhī-i Dāmpizishkī

This survey was conducted to study the seroepidemiology of hydatidosis in northwest of Iran. Totally 852 blood samples from rural inhabitants of Sarab, Meshkin shahr, Moghan and Urmia were collected and their sera were separated. For antigen preparation, the livers and lungs of sheep infected with hydatid cyst and slaughtered at Tabriz abattoir were collected. The protoscolex was separated from the hydatid cyst and injected into the rabbit diaphragm using the sandwich technique. Then sections of the diaphragm were cut using the cryocut apparatus and fixed onto slides. The prepared sections were examined using marked antihuman globulin stained with Evan's blue by IFA test. Initially sensitivity and specifity of this test was evaluated on sera of 58 hospitalized hydatidosis patients and 70 healthy persons. The sensitivity and specifity of the test were estimated 88% and 98/6% respectively. In this survey the titers over 1:10 were considered positive. Among 852 tested samples, 30(3...

2025, Jundishapur Scientific Medical Journal

2025

Artigo protocolado em 14 fev. 2012 e aprovado em 11 abr. 2012. O desenvolvimento de um novo sistema Multiplex, utilizando marcadores genéticos do tipo mini-STRs, tem como objetivo a realização de testes de identificação humana por análise de DNA a partir de evidências biológicas degradadas com uma eficiência superior a dos métodos aplicados em laboratórios forenses. Neste estudo, o sistema Multiplex foi construído baseado em cinco loci do 1. Este artigo é resultante de pesquisa desenvolvida no Departamento de Genética e Biologia Molecular da UNIRIO.

2025

O desenvolvimento de um novo sistema Multiplex, utilizando marcadores geneticos do tipo mini-STRs, tem como objetivo a realizacao de testes de identificacao humana por analise de DNA a partir de evidencias biologicas degradadas com uma eficiencia superior a dos metodos aplicados em laboratorios forenses. Neste estudo, o sistema Multiplex foi construido baseado em cinco loci do tipo mini-STRs, sao eles: CSF1PO, FGA, TH01, TPOX e D21S11. Os primersutilizados foram analisados de acordo com sua especificidade e sensibilidade na deteccao dos alelos de cada locusselecionado. Os primers foram testados, inicialmente, em reacoes separadas, e depois, em reacoes multiplexes. Esses iniciadores apresentaram eficiencia na amplificacao dos loci, e, o sistema multiplex de maior eficiencia possuia concentracao de 1,0 ng/µL de cada primer. Este trabalho demonstra que o sistema em questao pode ser util, economico e rapido para a rotina de laboratorios forenses. Palavras-chave: Multiplex, mini-STRs, D...

2024, American Journal of Physical Anthropology

The human Y chromosome contains highly informative markers for making historical inferences about the pre-Columbian peopling of Americas. However, the scarcity of these markers has limited its use in the inference of shared ancestry and past migrations relevant to the origin of the culturally and biologically diverse Native Americans. To identify new single nucleotide polymorphisms (SNPs) and increase the phylogenetic resolution of the major haplogroup Q found in the Americas, we have performed a search for new polymorphisms based on sequencing divergent Y chromosomes identified by microsatellite haplotype analysis. Using this approach, a new Y-SNP (SA01) has been identified in the Andean populations of South America, allowing for the detection of a new sublineage of Q1a3a. This sublineage displays a less complex phylogeographic network of associated microsatellites and more restricted geographic occurrence, and is given the designation Q1a3a4. This result indicates that our approach can be successfully used to identify sublineages of interest in a specific region that allow the investigation of particular histories of human populations.

2024

Tugas UAS Mata Kuliah Genetika
Dosen Pengampu : Risma Nurlim, S.Kep.,Ns.,M.Sc

2024, Science

2024

Abstract
Background: The study of Y-chromosomal variations provides valuable insights into male susceptibility in certain diseases like cardiovascular disease (CVD). In this study, we analyzed paternal lineage in different Iranian ethnic groups, not only to identify developing medical etiology, but also to pave the way for gender-specific targeted strategies and personalized medicine in medical genetic research studies.
Methods: The diversity of eleven Iranian ethnic groups was studied using 27 Y-chromosomal short tandem repeat (Y-STR) haplotypes from Y-filer® Plus kit. Analysis of molecular variance (AMOVA) based on pair-wise RST along with multidimensional scaling (MDS) calculation and Network phylogenic analysis was employed to quantify the differences between 503 unrelated individuals from each ethnicity.
Results: Results from AMOVA calculation confirmed that Gilaks and Azeris showed the largest genetic distance (RST = 0.35434); however, Sistanis and Lurs had the smallest considerable genetic distance (RST = 0.00483) compared to other ethnicities. Although Azeris had a considerable distance from other ethnicities, they were still close to Turkmens. MDS analysis of ethnic groups gave the indication of lack of similarity between different ethnicities. Besides, network phylogenic analysis demonstrated insignificant clustering between samples.
Conclusion: The AMOVA analysis results explain that the close distance of Azeris and Turkmens may be the effect of male-dominant expansions across Central Asia that contributed to historical and demographics of populations in the region. Insignificant differences in network analysis could be the consequence of high mutation events that happened in the Y-STR regions over the years. Considering the ethnic group affiliations in medical research, our results provided an understanding and characterization of Iranian male population for future medical and population genetics studies.

2024, Iranian Journal of Veterinary Clinical Sciences

Backyard poultry can cause spread the virus to industrial poultry as reservoirs and vectors. The aim of
this study was to survey seroprevalence of H5, H7 and H9 subtypes of avian influenza virus in rural
domestic poultry of Ardabil province, northwest of Iran. In this study, 943 blood serum samples were
randomly collected from backyard poultry of 40 villages. The hemagglutination inhibition (HI) test
was performed on the serum samples according to OIE protocol to detect H5, H7 and H9 subtypes of
influenza virus. In this study antigens H5N2 and H7N1 were used for H5 and H7, respectively.
Suspicious samples on the first test were examined with the second antigens, namely H5N1 and H7N7.
Moreover, sera with titers ≥4 (i.e. log2) were considered positive. Out of 40 sampled villages, 31
villages (77.5%) and out of 943 birds sampled, 327 birds (34.7%) were positive for H9N2 subtype of
influenza virus. All the examined sera were negative for H5N1, H5N2, H7N1 and H7N7 subtypes of
influenza virus. The results of this study showed that seroprevalence of H9N2 influenza virus and its
circulation in rural domestic poultry of Ardabil province. The implementation of disease prevention
and control measures such as compliance biosecurity principles, vaccination and continuous
monitoring of circulating viruses in rural poultry to reduce the contamination of domestic poultry and
prevent the spread of the virus to industrial poultry are necessary.

2024, Royal Society Open Science

Atherothrombosis is the cornerstone of cardiovascular diseases and the primary cause of death worldwide. Genetic contribution to disturbances in lipid metabolism, coagulation, inflammation and oxidative stress increase the susceptibility to its development and progression. Given its multifactorial nature, the multiloci studies have been proposed as potential predictors of susceptibility. A cross-sectional study was conducted to explore the contribution of nine genes involved in oxidative stress, inflammatory and thrombotic processes in 204 subjects with atherothrombosis matched by age and gender with a healthy group (n= 204). To evaluate the possibility of spurious associations owing to the Mexican population genetic heterogeneity as well as its ancestral origins, 300 unrelated mestizo individuals and 329 Native Americans were also included.ALOX5,LPA,MMP9andTPOgene polymorphisms, as well as their multiallelic combinations, were twice to four times more frequent in those individuals ...

2024, Nature

The human population history of Australia remains contentious, not least because of a lack of large extensive genomic data. We generated high-coverage genomes for 83 geographically diverse Aboriginal Australians (all speakers of Pama-Nyungan languages) and 25 Papuans from the New Guinea Highlands. We find that Papuan and Aboriginal Australian ancestors diversified from each other 25-40 thousand years ago (kya), suggesting early population structure in the ancient continent of Sahul (Australia, New Guinea and Tasmania). However, all contemporary Aboriginal Australian studied descend from a single founding population that differentiated around 10-32 kya. We find evidence for a population expansion in northeast Australia during the Holocene (past c.10 kya) associated with limited gene flow from this region to the rest of Australia. This is broadly consistent with the spread of the Pama-Nyungan languages and cultural changes taking place across the continent in the mid-Holocene. We find evidence for a single out of Africa dispersal for all contemporary humans and estimate that Aboriginal Australians and Papuans shared a common ancestor with other Eurasians 60-100 kya, with subsequent admixture with different archaic populations. Finally, we report evidence of selection in Aboriginal Australians potentially associated with living in the desert. During most of the last 100 ky, Australia, Tasmania and New Guinea formed a single continent, Sahul, which was separated from Sunda (the continental landmass including mainland and western island Southeast Asia) by a series of deep oceanic troughs never exposed by changes in sea level (the Wallacean region as defined by biogeographers). Colonisation of Sahul is thought to have required at least 8-10 separate sea crossings between islands 1 , potentially constraining the occupation of Australia and New Guinea by earlier hominins 2. The age of the first occupation of Australia has been disputed. There are several archaeological sites in Australia dating to 40-45 kya (Figure 1), long argued to represent the age of first occupation 3 despite a few sites dating to ≥ 50 kya. However, recent studies support the earlier dates, suggesting that Sahul was first settled by 47.5-55 kya 4-6. This is consistent with the earliest evidence for modern humans in Sunda at a similar time 7 (Figure 1). Moreover skeletal remains that share morphological similarities with the ancestors of Aboriginal Australians and Papuans are found in South East Asia up until about 3,5 kya 8 , suggesting that the ancestors of Aboriginal Australians and Papuans extended from Sahul to Sunda. Historically, the morphological diversity among Aboriginal Australians was interpreted by some as indicating multiple ancestral migrations 9-11 ,or descent from Javanese Homo erectus, with varying levels of gene flow from contemporaneous populations 12. However, statistical analyses indicate that Australian crania show no evidence of H. erectus admixture 13. Still, the distinctiveness of the Australian archaeological record has led to the suggestion that the ancestors of Aboriginal Australians and Papuans (hereafter referred to as Australo-Papuans), as well as a small number of other populations, left the African continent earlier than the ancestors of present-day Eurasians 14. Although such multiple dispersals from Africa are supported by some genetic studies 15,16 , others have found support for only one out of Africa (OoA) event, with one 17 or two 18 independent founding waves into Asia, of which the earlier contributed to Australo-Papuan ancestry 19,20. Recent genomic results have also shown that both Aboriginal Australian 20 and Papuan 21 ancestors likely admixed with Neanderthal and Denisovan archaic hominins after leaving Africa. Once in Sahul, contact among groups would have been affected by rising sea-levels that separated the Australian continent from New Guinea and Tasmania 7-14.5 kya through the formation of the Arafura Sea and Bass Strait 22,23 (Figure 1). These events still appear to be part of the oral tradition of several Aboriginal Australian communities 24. Similarly, environmental variation accentuated during the last glacial maximum (LGM) 19-26.5 kya, leading to greater desertification of Australia 25 and more challenging temperature gradients, appears to had an impact on the number and density of human populations 26,27. In the same context, morphological and physiological studies find that Aboriginal Australians living in the desert areas today have unique adaptations 28-30 , such as the absence of the increased metabolic rates observed in Europeans when exposed to the freezing night temperatures common in the desert 31,32. At the time of European contact, Aboriginal Australians spoke over 250 distinct languages 33 , two-thirds of which belong to the Pama-Nyungan family. The place of origin of this language family, which covers 90% of the Australian mainland, has been debated 34 , as has the effect of its extensive diffusion on its internal phylogenetic structure 33. The pronounced similarity among Pama-Nyungan languages, together with shared socio-cultural patterns, have been interpreted as the result of a recent, mid-Holocene, expansion 35. Other changes in the mid-late Holocene (~4 kya) include the efflorescence of backed blades (microliths 36) and the introduction of the dingo 37. The spatial distribution of microliths

2024, Molecular Biology and Evolution

Ancient demographic events can be inferred from the distribution of pairwise sequence differences (or mismatches) among individuals. We analyzed a database of 3,677 Y chromosomes typed for 11 biallelic markers in 48 human populations from Europe and the Mediterranean area. Contrary to what is observed in the analysis of mitochondrial polymorphisms, Tajima's test was insignificant for most Y-chromosome samples, and in 47 populations the mismatch distributions had multiple peaks. Taken at face value, these results would suggest either (1) that the size of the male population stayed essentially constant over time, while the female population size increased, or (2) that different selective regimes have shaped mitochondrial and Y-chromosome diversity, leading to an excess of rare alleles only in the mitochondrial genome. An alternative explanation would be that the 11 variable sites of the Y chromosome do not provide sufficient statistical power, so a comparison with mitochondrial data (where more than 200 variable sites are studied in Europe) is impossible at present. To discriminate between these possibilities, we repeatedly analyzed a European mitochondrial database, each time considering only 11 variable sites, and we estimated mismatch distributions in stable and growing populations, generated by simulating coalescent processes. Along with theoretical considerations, these tests suggest that the difference between the mismatch distributions inferred from mitochondrial and Y-chromosome data are not a statistical artifact. Therefore, the observed mismatch distributions appear to reflect different underlying demographic histories and/or selective pressures for maternally and paternally transmitted loci.

2024, Trends in Genetics

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2024, Mutation Research/Genetic Toxicology and Environmental Mutagenesis

This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

2024, American journal of human biology : the official journal of the Human Biology Council

There is an ongoing effort to characterize the genetic links between Africa and Europe, mostly using lineages and haplotypes that are specific to one continent but had an ancient origin in the other. Mitochondrial DNA has been proven to be a very useful tool for this purpose since a high number of putatively European-specific variants of the African L* lineages have been defined over the years. Due to their geographic locations, Spain and Portugal seem to be ideal places for searching for these lineages. Five members of a minor branch of haplogroup L3f were found in recent DNA samplings in the region of Asturias (Northern Spain), which is known for its historical isolation. The frequency of L3f in this population (≈1%) is unexpectedly high in comparison with other related lineages in Europe. Complete mitochondrial DNA sequencing of these L3f lineages, as well phylogenetic and phylogeographic comparative analyses have been performed. The L3f variant found in Asturias seems to constit...

2024, Science

2024, Jindal Global Law Review

This review essay explores the themes that emerge from articles published in the Special Section on 'Cultural Expertise' in the American Anthropologist. The articles provide relevant insight into the key debates that surround the participation of cultural experts, especially anthropologists, in courtrooms and the use of social science in courts to adjudicate claims. In this review essay, we assess how anthropological knowledge impacts claims made by indigenous people building on the experiences of the contributors to the Special Section. The contributors highlight how anthropological knowledge can support indigenous claims even though it also reinforces culturally essentialist tropes about the indigenous population. This is because it is the judicial system that sets the terms of how anthropological knowledge is to be incorporated in a courtroom. We provide a conceptual vocabulary to categorise this form of complicity between anthropological knowledge and state legal order, calling it 'claim-enhancing complicity'. But we also discuss how the Special Section in the American Anthropologist does not capture another form of complicity-which we classify as 'claim-dismissing complicity'. We find examples of claim-dismissing complicity in the Indian context. We see the operation of claim-dismissing complicity in two areas-first, in the denial of the indigenous status of tribal communities in India, where anthropological knowledge reinforces the Indian state's position in the international arena and second, in the use of anthropological knowledge to set heavy burden on tribal candidates of India's affirmative action programmes to prove the authenticity of their tribal identity.

2024, Science

2024

Background: India is a unique weaving of ethnic, linguistic, and geographically diverse populations that cohabit. India continues to be a melting pot of different cultures. Populations having diverse genetic configurations have brought attention to the subcontinent's genetic past. The key question remains, however, whether they share a common genetic ancestry or differ with respect to geography, ethnicity, and language. To understand the genetic relationship among these populations, we performed an intensive review of previously published literature with 3317 individuals from 28 indigenous tribes across India. Results: The studied population exhibited a high degree (0.751-0.909) of heterozygosity at the loci D8S1179, D21S11, and FGA. Most of the NorthEast Indian populations show the least heterozygosity value <0.550 at the locus TH01 which is suggesting small genetic variability. The heterozygosity ranges from 0.719 ± 0.024 (Adi Minyong of Arunachal Pradesh) to 0.845 ± 0.013 (Katkari of Maharastra), and the overall mean is 0.723. Adi Pasi and Adi Komkar of Arunachal Pradesh and Bhils of Gujarat show a relatively moderate level of <75% heterozygosity. The genomic diversity H S and the locus-wise average coefficient of gene diversity G ST range from (76.2%-79.2%) and (0.6%-1.4%). Conclusion: Autosomal STR markers revealed that endogamous tribal populations from the same geographical region exhibited genetic proximity. Depending on these findings, the study explains that genetic distance correlated to their shared geography and ethnicity. The genomic diversity and the locus-wise average coefficient of gene diversity indicate the genetic affinity among tribal populations by ethnicity, language, and geography.

2024, PLoS ONE

Antisocial and criminal behaviors are multifactorial traits whose interpretation relies on multiple disciplines. Since these interpretations may have social, moral and legal implications, a constant review of the evidence is necessary before any scientific claim is considered as truth. A recent study proposed that men with wider faces relative to facial height (fWHR) are more likely to develop unethical behaviour mediated by a psychological sense of power. This research was based on reports suggesting that sexual dimorphism and selection would be responsible for a correlation between fWHR and aggression. Here we show that 4,960 individuals from 94 modern human populations belonging to a vast array of genetic and cultural contexts do not display significant amounts of fWHR sexual dimorphism. Further analyses using populations with associated ethnographical records as well as samples of male prisoners of the Mexico City Federal Penitentiary condemned by crimes of variable level of inter-personal aggression (homicide, robbery, and minor faults) did not show significant evidence, suggesting that populations/individuals with higher levels of bellicosity, aggressive behaviour, or power-mediated behaviour display greater fWHR. Finally, a regression analysis of fWHR on individual's fitness showed no significant correlation between this facial trait and reproductive success. Overall, our results suggest that facial attributes are poor predictors of aggressive behaviour, or at least, that sexual selection was weak enough to leave a signal on patterns of between-and within-sex and population facial variation.

2024

In this study, we reported for the first time Y chromosome haplotypes throughout Iran from 1097 unrelated Iranian males using the AmpFlSTRTM YfilerTM kit. 1094 out of the 1097 haplotypes identified were unique. The values of haplotype diversity (HD) and discriminating capacity (DC) were 1.00000 and 0.997, respectively. An analysis of genetic distance was performed by the molecular variance (AMOVA) and multidimensional scaling plots (MDS), showing that a statistically was observed significant difference between the study population and previous data reported for other Iranian populations and other neighboring countries. The findings of the present study are likely to be useful for Forensic casework analysis and kinship investigations.

2024, Science

2024, Journal of Natural History

The Blackcap, Sylvia atricapilla, is one of the few passerine species that breeds in all the Macaronesian archipelagos. The sedentary habits of these populations contrast with the migratory populations from the Western Europe. However, little is known for Azorean populations. We assessed the phylogeography of populations from the Azores based on sequences of two mitochondrial genes and one nuclear gene in the Z-chromosome. We also analysed differences in eight morphometric characters from a total of 282 Blackcaps from all the Azores islands. Our results suggest the occurrence of historical and/or current gene flow among birds from all the islands. Blackcaps from the Azores are close relatives of those from Madeira and Portugal, indicating a recent range expansion to the Azores in the last 0.1 million years. The analysis of morphometric data showed a high morphological diversity among and within the islands, probably related to ecological traits.

2024, Nature

2024, isara solutions

The Present time river water reservoirs are probably the planets most important of aquatic environment ecosystem. There is nearly 75-85% water pollutant in the worlds and 10% water portable for human & aquatic activities 5% fresh water many people depend on. It is one of the major sources of drinking & domestic use in village & rural areas of large population our surrounding. The impact of rapid Industrialization and fertilizers, Insecticide are uses around, the globe an unsafe water, Toxic element have become increasingly significant within Assessment of Toxicological effect of Aquatic Ecosystem in river. Shivnath river water is one of the major sources for domestic uses may part of dagauri village area. The present investigation deals with a study of toxic heavy metal, studies have in this river site village by a specially prepared. Aquatic assessment questionnaire toxicological heavy metals. The primary aim of this survey has to find out the concentration of heavy metal in the samples of river water. Seasonal changes in physio-chemical parameter such as temperature, p H , Turbidity, Total hardness, BOD, COD, TDS, assessing heavy metal Ca, Mg, Fe, Mn, Pb, Fluoride, Chloride, nitrate, Sulphate. The study indicates that river water contains higher concentration of some heavy metals Fe, Pb, Mg, and Ca in aquatic system. The suitable method was suggested for the effluent treatment plant, the user of river water was also informed about the toxicity, alkalinity & it's assessed with respect to health hazard.

2024, Genome Biology

Background: Population demography and gene flow among African groups, as well as the putative archaic introgression of ancient hominins, have been poorly explored at the genome level. Results: Here, we examine 15 African populations covering all major continental linguistic groups, ecosystems, and lifestyles within Africa through analysis of whole-genome sequence data of 21 individuals sequenced at deep coverage. We observe a remarkable correlation among genetic diversity and geographic distance, with the huntergatherer groups being more genetically differentiated and having larger effective population sizes throughout most modern-human history. Admixture signals are found between neighbor populations from both hunter-gatherer and agriculturalists groups, whereas North African individuals are closely related to Eurasian populations. Regarding archaic gene flow, we test six complex demographic models that consider recent admixture as well as archaic introgression. We identify the fingerprint of an archaic introgression event in the sub-Saharan populations included in the models (~4.0% in Khoisan,~4.3% in Mbuti Pygmies, and~5.8% in Mandenka) from an early divergent and currently extinct ghost modern human lineage. Conclusion: The present study represents an in-depth genomic analysis of a Pan African set of individuals, which emphasizes their complex relationships and demographic history at population level.

2024, isara solutions

Biotechnology uses biological processes or living things to design, develop, or produce goods. This in article goal is to assess the currently scope of biotechnology and look ahead to its potential. At the moment, biotechnology is essential to medicine, agriculture, and business. In medicine, antibodies and RNA/DNA probes have become crucial in detecting diseases and treating some diseases; gene editing and gene therapy make it possible to treat genetic diseases. Vaccines, which still rely on biological systems to create them, are the best instruments for preventing infectious diseases. In agriculture, biotechnology may produce crops with improved nutritional profiles, high yields, and minimal input requirements. It may also produce crops that require less pesticide application. In the industrial sector, biotechnology has been used to the manufacturing of chemicals, the processing of metal ores, the processing of food, and the reduction of pollution and energy use.

2024, Revista Peruana de Biología

2024, isara solutions

Chhattisgarh is bestowed with all kinds of minerals, such as gold, iron ore, tin, bauxite, diamond and coal. It has around 18% of India’s total coal deposits, 20% of India’s iron ore and 35% of tin ore. But that has not translated into fortune for locals who are either displaced from their lands, fighting for proper rehabilitation and resettlement or forced to live with extreme air and water pollution.

2024, American Journal of Physical Anthropology

ABSTRACTThe debate on the origins of Etruscans, documented in central Italy between the eighth century BC and the first century AD, dates back to antiquity. Herodotus described them as a group of immigrants from Lydia, in Western Anatolia, whereas for Dionysius of Halicarnassus they were an indigenous population. Dionysius' view is shared by most modern archeologists, but the observation of similarities between the (modern) mitochondrial DNAs (mtDNAs) of Turks and Tuscans was interpreted as supporting an Anatolian origin of the Etruscans. However, ancient DNA evidence shows that only some isolates, and not the bulk of the modern Tuscan population, are genetically related to the Etruscans. In this study, we tested alternative models of Etruscan origins by Approximate Bayesian Computation methods, comparing levels of genetic diversity in the mtDNAs of modern and ancient populations with those obtained by millions of computer simulations. The results show that the observed genetic ...

2024, Annals of Human Genetics

SummaryThis study focuses on the genetic history of the Quechua‐Lamistas, inhabitants of the Lamas Province in the San Martin Department, Peru, who speak their own distinct variety of the Quechua family of languages. It has been suggested that different pre‐Columbian ethnic groups from the Peruvian Amazonia, like the Motilones or “shaven heads”, assimilated the Quechua language and then formed the current native population of Lamas. However, many Quechua‐Lamistas claim to be direct descendants of the Chankas, a famous pre‐Columbian indigenous group that escaped from Inca rule in the Andes. To investigate the Quechua‐Lamistas and Chankas’ ancestries, we compared uniparental genetic profiles (17 STRs of Q‐M3 Y‐chromosome and mtDNA complete control region haplotypes) among autochthonous Amazonian and Andean populations from Peru, Bolivia and Ecuador. The phylogeographic and population genetic analyses indicate a fairly heterogeneous ancestry for the Quechua‐Lamistas, while they are clo...

2024, Revista Peruana de Biología

2024, PLoS ONE

The Altiplano region of the South American Andes is marked by an inhospitable climate to which the autochthonous human populations adapted and then developed great ancient civilizations, such as the Tiwanaku culture and the Inca Empire. Since pre-Columbian times, different rulers established themselves around the Titicaca and Poopo Lakes. By the time of the arrival of Spaniards, Aymara and Quechua languages were predominant on the Altiplano under the rule of the Incas, although the occurrence of other spoken languages, such as Puquina and Uruquilla, suggests the existence of different ethnic groups in this region. In this study, we focused on the pre-Columbian history of the autochthonous Altiplano populations, particularly the Uros ethnic group, which claims to directly descend from the first settlers of the Andes, and some linguists suggest they might otherwise be related to Arawak speaking groups from the Amazon. Using phylogeographic, population structure and spatial genetic analyses of Y-chromosome and mtDNA data, we inferred the genetic relationships among Uros populations (Los Uros from Peru, Uru-Chipaya and Uru-Poopo from Bolivia), and compared their haplotype profiles with eight Aymara, nine Quechua and two Arawak (Machiguenga and Yanesha) speaking populations from Peru and Bolivia. Our results indicated that Uros populations stand out among the Altiplano populations, while appearing more closely related to the Aymara and Quechua from Lake Titicaca and surrounding regions than to the Amazon Arawaks. Moreover, the Uros populations from Peru and Bolivia are genetically differentiated from each other, indicating a high heterogeneity in this ethnic group. Finally, our results support the distinctive ancestry for the Uros populations of Peru and Bolivia, which are likely derived from ancient Andean lineages that were partially replaced during more recent farming expansion events and the establishment of complex civilizations in the Andes.

2024, Journal of Human Genetics

In order to investigate the underlying genetic structure and genomic ancestry proportions of Peruvian subpopulations, we analyzed 551 human samples of 25 localities from the Andean, Amazonian, and Coastal regions of Peru with a set of 40 ancestry informative insertion-deletion polymorphisms. Using genotypes of reference populations from different continents for comparison, our analysis indicated that populations from all 25 Peruvian locations had predominantly Amerindian genetic ancestry. Among populations from the Titicaca Lake islands of Taquile, Amantani, Anapia, and Uros, and the Yanque locality from the southern Peruvian Andes, there was no significant proportion of non-autochthonous genomes, indicating that their genetic background is effectively derived from the first settlers of South America. However, the Andean populations from San Marcos, Cajamarca, Characato and Chogo, and coastal populations from Lambayeque and Lima displayed a low but significant European ancestry proportion. Furthermore, Amazonian localities of Pucallpa, Lamas, Chachapoyas, and Andean localities of Ayacucho and Huancayo displayed intermediate levels of non-autochthonous ancestry, mostly from Europe. These results are in close agreement with the documented history of post-Columbian immigrations in Peru and with several reports suggesting a larger effective size of indigenous inhabitants during the formation of the current country's population.

2024, Heredity

There is limited knowledge on the biological relatedness between citizens and on the demographical dynamics within villages, towns and cities in pre-17th century Western Europe. By combining Y-chromosomal genotypes, in-depth genealogies and surname data in a strict genetic genealogical approach, it is possible to provide insights into the genetic diversity and the relatedness between indigenous paternal lineages within a particular community at the time of the surname adoption. To obtain these insights, six Flemish communities were selected in this study based on the differences in geography and historical development. After rigorous selection of appropriate DNA donors, low relatedness between Y chromosomes of different surnames was found within each community, although there is co-occurrence of these surnames in each community since the start of the surname adoption between the 14th and 15th century. Next, the high communal diversity in Y-chromosomal lineages was comparable with th...