Article
Genetics & Heredity
Ryan Joseph Daniels, Maria Eugenia D'Amato, Mpasi Lesaoana, Mohaimin Kasu, Karen Ehlers, Paballo Abel Chauke, Puseletso Lecheko, Sam Challis, Kirk Rockett, Francesco Montinaro, Miguel Gonzalez-Santos, Cristian Capelli
Summary: Using contemporary individuals as proxies for ancient communities is necessary but controversial in anthropology. The distinction between Cape KhoeSan and eastern KhoeSan remains unclear in southern Africa due to changing ethnicity labels and the decimation of most communities. Genetic analysis suggests that the Baphuthi, who had a nomadic lifestyle and shared heritage with the KhoeSan, have genetic affinities with early-arriving southern Bantu-speaking communities rather than a unique eastern KhoeSan ancestry. The references to San and Bushman in historic literature may reflect non-sedentary polities instead of ethnic/biological distinctions.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
M. Kasu, K. W. Cloete, R. Pitere, K. J. Tsiana, M. E. D'Amato
Summary: This study analyzed the profiles of 2188 South African males using highly informative markers and found high levels of genetic diversity and complex population history in South Africa. The study demonstrated significant genetic differences between different ethnic groups, with ethnicity being a stronger factor than geopolitical subdivision. Cluster analysis revealed higher genetic density in regions corresponding to specific languages.
FORENSIC SCIENCE INTERNATIONAL-GENETICS
(2022)
Article
Multidisciplinary Sciences
Johann-Mattis List, Robert Forkel, Simon J. Greenhill, Christoph Rzymski, Johannes Englisch, Russell D. Gray
Summary: The past decades have witnessed substantial growth in digital data on the world's languages, leading to an increasing demand for cross-linguistic datasets. However, the lack of standardization in published datasets makes comparison difficult. This study presents a new approach to improve comparability by converting datasets to Cross-Linguistic Data Formats and demonstrates the benefits through automatic inference of phonological and lexical features.
Review
Obstetrics & Gynecology
Maki Fukami, Mami Miyado
Summary: The loss of Y chromosomes (mLOY) is a common chromosomal alteration in humans, affecting over 40% of men over 70 years of age. Factors such as advanced age, smoking, and certain SNPs in cell cycle genes increase the occurrence of mLOY. The developmental process of mLOY in elderly men is still not fully understood, but it may involve mitotic elimination or clonal expansion. mLOY has been associated with various health problems including early death, cancers, infertility, and developmental defects.
REPRODUCTIVE MEDICINE AND BIOLOGY
(2022)
Article
Multidisciplinary Sciences
Ezequiel Koile, Simon J. Greenhill, Damian E. Blasi, Remco Bouckaert, Russell D. Gray
Summary: The Bantu expansion, which transformed sub-Saharan Africa in terms of language, economy, and culture, was reconstructed using a break-away geographical diffusion model with augmented geographic data. The findings suggest an expansion of the Bantu language family through Central African tropical forests over 4000 years ago, predating the opening of the Sangha River Interval.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Computer Science, Cybernetics
Thokozani Chimkono, Eunice Mphako-Banda, Amelia Taylor, Pascal Kishindo
Summary: This study evaluates the usability of two optimized keyboard layouts for Central-Bantu language speakers in typing English and Chichewa text, with results showing that the entry rate for English text is about 13% higher than that for Chichewa, but the optimized keyboards reduced this difference to 4%.
INTERNATIONAL JOURNAL OF HUMAN-COMPUTER INTERACTION
(2021)
Article
Multidisciplinary Sciences
Leonidas-Romanos Davranoglou, Leonidas Embirikos
Summary: In this study, the researchers aimed to fill the knowledge gap regarding the names and traditions of the common toad in the Balkans. Through surveys conducted in Greece, they documented toad names and traditions in various Greek dialects as well as non-Greek languages. The study highlights the significance of these zoonyms as linguistic and ethnographic tools that reflect Greece's linguistic, demographic, and historical processes, and emphasizes the importance of recording animal names in indigenous and threatened languages.
Article
Genetics & Heredity
Elizabeth G. Atkinson, Shareefa Dalvie, Yakov Pichkar, Allan Kalungi, Lerato Majara, Anne Stevenson, Tamrat Abebe, Dickens Akena, Melkam Alemayehu, Fred K. Ashaba, Lukoye Atwoli, Mark Baker, Lori B. Chibnik, Nicole Creanza, Mark J. Daly, Abebaw Fekadu, Bizu Gelaye, Stella Gichuru, Wilfred E. Injera, Roxanne James, Symon M. Kariuki, Gabriel Kigen, Nastassja Koen, Karestan C. Koenen, Zan Koenig, Edith Kwobah, Joseph Kyebuzibwa, Henry Musinguzi, Rehema M. Mwema, Benjamin M. Neale, Carter P. Newman, Charles R. J. C. Newton, Linnet Ongeri, Sohini Ramachandran, Raj Ramesar, Welelta Shiferaw, Dan J. Stein, Rocky E. Stroud, Solomon Teferra, Mary T. Yohannes, Zukiswa Zingela, Alicia R. Martin, NeuroGAP Psychosis Study Team
Summary: African populations are underrepresented in medical genetics research, but studying their genetic and ethnolinguistic diversity can improve our understanding of genetic variation. Language classification can reflect underlying genetic variation, highlighting the role of culture in shaping genetic diversity. Additionally, language transmission and frequency changes were observed through generations in African populations.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Computer Science, Artificial Intelligence
Astik Biswas, Emre Yilmaz, Ewald van der Westhuizen, Febe de Wet, Thomas Niesler
Summary: This study describes the efforts to improve an ASR system that can process code-switched South African speech. They used a balanced corpus and explored various methods to address data sparsity. The inclusion of both in-domain and out-of-domain data sources led to improvements, and TDNN-F architectures outperformed TDNN-BLSTM models in their data-sparse scenario.
COMPUTER SPEECH AND LANGUAGE
(2022)
Article
Multidisciplinary Sciences
Perle Guarino-Vignon, Nina Marchi, Julio Bendezu-Sarmiento, Evelyne Heyer, Celine Bon
Summary: Southern Central Asia has been a significant crossroads for the movement of people, culture, and goods since prehistoric times. Genetic studies comparing current-day Indo-Iranian populations with ancient individuals reveal a remarkable genetic continuity in Central Asia since the Iron Age, with limited gene flow.
SCIENTIFIC REPORTS
(2022)
Review
Biology
Jeremie Subrini, James Turner
Summary: The mammalian Y chromosome is critical for male sex determination and spermatogenesis, but its functional studies have been challenging. Current research is focusing on identifying the minimum set of Y genes necessary for male reproduction.
Article
Multidisciplinary Sciences
Gaorui Gong, Yang Xiong, Shijun Xiao, Xi-Yin Li, Peipei Huang, Qian Liao, Qingqing Han, Qiaohong Lin, Cheng Dan, Li Zhou, Fan Ren, Qi Zhou, Jian-Fang Gui, Jie Mei
Summary: We assembled highly homomorphic Y and X chromosomes in yellow catfish and discovered that the Y chromosome is at an early stage of differentiation with no clear evidence of evolutionary strata and recombination suppression. The accumulation of sex-antagonistic mutations and repetitive elements in the sex-determining region suggests their role in recombination suppression between young X and Y chromosomes. Additionally, we found distinct chromatin organizations and nuclear spatial organization in the YY supermales and XX females, indicating chromatin remodeling after sex reversal.
NATIONAL SCIENCE REVIEW
(2023)
Article
Genetics & Heredity
Maxat Zhabagin, Lan-Hai Wei, Zhaxylyk Sabitov, Peng-Cheng Ma, Jin Sun, Zhanargul Dyussenova, Elena Balanovska, Hui Li, Yerlan Ramankulov
Summary: Studies of Y chromosomal SNPs and STRs have revealed the demographic history of Central Asia, but complex migration and admixture patterns have complicated population genetic studies. By sequencing and analyzing the Y-chromosomes of male individuals from various populations in Central Asia, the researchers observed high diversity and admixture from peripheral Eurasian areas. They also detected consistent expansion of minor lineages over the past thousand years, which may contribute to the formation of modern populations in the region.
Article
Energy & Fuels
Rotondwa Masindi, K. B. Trivedi, M. Opuwari
Summary: This study fills the knowledge gap in the Bredasdorp Basin Offshore South Africa by analyzing the sandstone reservoir characteristics. The results show that medium-grained sandstone (facies 3) has the best reservoir quality, while claystone (facies 1) has the least quality. Based on the findings, further oil and gas development should focus on the eastern part of the Y gas field.
JOURNAL OF PETROLEUM EXPLORATION AND PRODUCTION TECHNOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Marcel Lucas-Sanchez, Jose M. Serradell, David Comas
Summary: Genomic data from North Africa indicate a complex demographic scenario with a gradual dilution of ancient autochthonous genetic components due to historical population movements. The comparison of ancient and modern genomes demonstrates genetic continuity in the region since Epipaleolithic times. Recent historical movements, such as Arabization, have further shaped the genetic landscape in North Africa.
HUMAN MOLECULAR GENETICS
(2021)
Article
Multidisciplinary Sciences
C. Garcia-Fernandez, N. Font-Porterias, V. Kucinskas, E. Sukarova-Stefanovska, H. Pamjav, H. Makukh, B. Dobon, J. Bertranpetit, M. G. Netea, F. Calafell, D. Comas
SCIENTIFIC REPORTS
(2020)
Review
Biochemistry & Molecular Biology
Marcel Lucas-Sanchez, Jose M. Serradell, David Comas
Summary: Genomic data from North Africa indicate a complex demographic scenario with a gradual dilution of ancient autochthonous genetic components due to historical population movements. The comparison of ancient and modern genomes demonstrates genetic continuity in the region since Epipaleolithic times. Recent historical movements, such as Arabization, have further shaped the genetic landscape in North Africa.
HUMAN MOLECULAR GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Neus Font-Porterias, Rocio Caro-Consuegra, Marcel Lucas-Sanchez, Marie Lopez, Aaron Gimenez, Annabel Carballo-Mesa, Elena Bosch, Francesc Calafell, Lluis Quintana-Murci, David Comas
Summary: The study reveals that the Roma genomes exhibit a long-term balance under the effects of founder effects and gene flow, providing insights into the genetic variation in admixed populations.
MOLECULAR BIOLOGY AND EVOLUTION
(2021)
Article
Biochemistry & Molecular Biology
Andre Flores-Bello, Frederic Bauduer, Jasone Salaberria, Bernard Oyharcabal, Francesc Calafell, Jaume Bertranpetit, Lluis Quintana-Murci, David Comas
Summary: The Basques have historically lived in the Western Pyrenees region, straddling current Spanish and French territories, and have been the subject of intense research due to their unique cultural and biological traits. Analysis of genome-wide data has shown clear genetic differentiation of Basques from surrounding populations and significant genetic heterogeneity within the Basque population, correlated with geography. The Basque genetic differentiation is not attributed to external origins but rather to genetic continuity since the Iron Age reinforced by the language barrier.
Article
Multidisciplinary Sciences
Marcos Araujo Castro e Silva, Tiago Ferraz, Maria Catira Bortolini, David Comas, Tabita Hunemeier
Summary: This study reveals the presence of Australasian genetic signals in the Pacific coast region of South America, indicating an ancient contact between Pacific and Amazonian dwellers. It suggests that the contribution of Australasian population was introduced in South America through the Pacific coastal route before the formation of the Amazonian branch. Additionally, significant variations in this genetic signal were detected within and among populations in South America.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Genetics & Heredity
Neus Font-Porterias, Aaron Gimenez, Annabel Carballo-Mesa, Francesc Calafell, David Comas
Summary: Research findings indicate significant frequency differences in variant distribution between Roma and non-Roma populations, including obesity-related variants associated with South Asian ancestry in Roma and non-insulin dependent diabetes enriched in non-Roma Europeans. Additionally, drug-response variants have increased in Roma, showing clinical associations with metabolic and cardiovascular-related drugs.
FRONTIERS IN GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Marcos Araujo Castro e Silva, Tiago Ferraz, Caina M. Couto-Silva, Renan B. Lemes, Kelly Nunes, David Comas, Tabita Hunemeier
Summary: Based on genome-wide data of 58 native populations, this study revealed clear patterns of genetic structure among South American natives, showing at least four primary genetic clusters in the Amazonian and savanna regions and three clusters in the Andes and Pacific coast. The longitudinal genetic variation along a west-east axis seems to have been shaped by population bottlenecks and isolation by distance, while the present-day South American substructures recapitulate ancient macroregional ancestries and suggest cultural exchanges in the western Amazonia groups that led to language replacement in precontact times. Demographic inferences indicate a higher resilience of western South American groups to population collapses caused by the European invasion and suggest precontact population reductions and demic expansions in South America.
MOLECULAR BIOLOGY AND EVOLUTION
(2022)
Article
Multidisciplinary Sciences
Marcel Lucas-Sanchez, Neus Font-Porterias, Francesc Calafell, Karima Fadhlaoui-Zid, David Comas
Summary: This study analyzed the genomic variation distribution in two culturally different Tunisian populations and found that the Amazigh population displayed genetic isolation, drift, and inbreeding effects, while the Imazighen population showed enrichment in variation associated with specific diseases or phenotypic traits. These findings highlight the genetic impact of recent demography and the importance of considering cultural and demographic heterogeneity within North Africa.
SCIENTIFIC REPORTS
(2021)
Article
Public, Environmental & Occupational Health
Caradee Y. Wright, Thandi Kapwata, Nada Abdelatif, Chiara Batini, Bianca Wernecke, Zamantimande Kunene, Danielle A. Millar, Angela Mathee, Renee Street, Rikesh Panchal, Anna Hansell, Rebecca Cordell, Joshua Vande Hey
Summary: During COVID-19 lockdown in South Africa, households may have increased their exposure to household air pollution (HAP). Some households reduced their electricity usage or switched to dirty fuels. Presence of environmental tobacco smoke, a source of HAP-associated respiratory illnesses, was reported in one third of households. Majority of households reported increased cooking, cleaning, and indoor time, potentially increasing their exposure to HAP.
ANNALS OF GLOBAL HEALTH
(2022)
Article
Evolutionary Biology
Laura Vila-Valls, Julen Aizpurua-Iraola, Sebastian Casinge, Karin Bojs, Andre Flores-Bello, Neus Font-Porterias, David Comas
Summary: The Resande are a minority ethnic group in Sweden, believed to be a mixture of Swedish and Romani populations. Through analyzing genome-wide data, researchers have confirmed the Romani-related ancestry of the Resande and identified an admixture event between Romani-like and Swedish-like populations occurring between the mid-18th and mid-19th centuries. This study sheds light on the origins and demographic history of the Resande from a genetic perspective.
GENOME BIOLOGY AND EVOLUTION
(2023)
Article
Genetics & Heredity
Marcel Lucas-Sanchez, Karima Fadhlaoui-Zid, David Comas
Summary: This study confirms the genetic influence of trans-Saharan migrations in present-day North Africa and provides new evidence about its quantity, geographical origin, and dates. The findings highlight the significance of trans-Saharan human genetic contacts and contribute to understanding the genomic composition of North Africa.
Review
Genetics & Heredity
Giacomo Francesco Ena, Julen Aizpurua-Iraola, Neus Font-Porterias, Francesc Calafell, David Comas
Summary: This review presents the latest developments in the genetic background research of the Roma, including studies on their ancestral components and migrations. It is important for both the public and scholars to understand the genetic characteristics and origins of the Roma.
Article
Genetics & Heredity
Marco Antinucci, David Comas, Francesc Calafell
Summary: In this study, we conducted the first whole genome Copy Number Variant (CNV) study of the Roma population and compared them with reference populations from South Asia, the Middle East, and Europe. Using CNV calling software, we identified a total of 3171 deletions and 489 duplications. The analysis revealed that the patterns of deletion variation in the Roma population were consistent with those observed in single nucleotide polymorphisms (SNPs), indicating the influence of population history on CNV variation. Additionally, we found an increase in intronic deletions within Loss of Function (LoF)-intolerant genes, which may be attributed to reduced effective population size and slightly relaxed natural selection.
Article
Multidisciplinary Sciences
Caina M. Couto-Silva, Kelly Nunes, Gabriela Venturini, Marcos Araujo Castro e Silva, Lygia Pereira, David Comas, Alexandre Pereira, Tabita Hunemeier
Summary: Ecological conditions in the Amazon rainforests favor the transmission of tropical diseases, and the genetic adaptation of humans in this complex ecosystem is still unclear. This study analyzed the genomic data of 19 native populations to investigate the possible genetic adaptation to the Amazon rainforest. The results showed strong natural selection in genes related to Trypanosoma cruzi infection, the pathogen responsible for Chagas disease, a neglected tropical parasitic disease spreading worldwide.
Article
Biology
Neus Font-Porterias, Madeline G. McNelis, David Comas, Leslea J. Hlusko
Summary: The study analyzed genetic variation and phenotypic traits in aquatic and non-aquatic mammalian species, revealing strong signals of positive selection in EDA and EDAR genes in some endangered aquatic mammals. However, robust signals of gene-trait coevolution or convergent amino acid shifts in the ectodysplasin pathway associated with shared phenotypic traits among aquatic mammals were not detected.
INTEGRATIVE ORGANISMAL BIOLOGY
(2022)