Article
Multidisciplinary Sciences
David H. Mauki, Adeniyi C. Adeola, Said Ng'ang'a, Abdulfatai Tijjani, Ibikunle Mark Akanbi, Oscar J. Sanke, Abdussamad M. Abdussamad, Sunday C. Olaogun, Jebi Ibrahim, Philip M. Dawuda, Godwin F. Mangbon, Paul S. Gwakisa, Ting-Ting Yin, Min-Sheng Peng, Ya-Ping Zhang
Summary: This study analyzed the genetic diversity of cattle samples from Nigeria using both maternal and paternal DNA markers, revealing that Nigerian cattle are mainly clustered with African cattle and have a zebu haplogroup in terms of paternal analysis. There was no signal of maternal genetic structure in Nigerian cattle population, suggesting extensive genetic intermixing within the country.
Article
Genetics & Heredity
Shuqin Liu, Chunzheng Fu, Yunzhou Yang, Yuanyuan Zhang, Hongying Ma, Zhiyao Xiong, Yao Ling, Chunjiang Zhao
Summary: The genetic diversity of Chinese indigenous horses was investigated using Y chromosomal microsatellite markers and known Y chromosomal SNPs and mtDNA sequences. The study revealed highly polymorphic Y chromosomal microsatellite markers in Chinese indigenous horse populations, with the most ancient paternal lines found in mountainous and remote areas of southwestern China. Despite higher mtDNA diversity in southern local breeds, haplogroup frequencies have declined in recent years, leading to some breeds being endangered due to small population sizes.
G3-GENES GENOMES GENETICS
(2021)
Article
Genetics & Heredity
Nicola Rambaldi Migliore, Giulia Colombo, Marco Rosario Capodiferro, Lucia Mazzocchi, Ana Maria Chero Osorio, Alessandro Raveane, Maribel Tribaldos, Ugo Alessandro Perego, Tomas Mendizabal, Alejandro Garcia Monton, Gianluca Lombardo, Viola Grugni, Maria Garofalo, Luca Ferretti, Cristina Cereda, Stella Gagliardi, Richard Cooke, Nicole Smith-Guzman, Anna Olivieri, Bethany Aram, Antonio Torroni, Jorge Motta, Ornella Semino, Alessandro Achilli
Summary: The Isthmus of Panama served as a crossroads between North and South America, impacting the genetic structure of Indigenous populations due to pre- and post-contact genetic inputs. Comparisons of mtDNA and Y-chromosome lineages revealed differential replacement of Indigenous Y chromosomes by western Eurasian lineages.
Article
Genetics & Heredity
Elmira Khussainova, Ilya Kisselev, Olzhas Iksan, Bakhytzhan Bekmanov, Liliya Skvortsova, Alexander Garshin, Elena Kuzovleva, Zhassulan Zhaniyazov, Gulnur Zhunussova, Lyazzat Musralina, Nurzhibek Kahbatkyzy, Almira Amirgaliyeva, Mamura Begmanova, Akerke Seisenbayeva, Kira Bespalova, Anastasia Perfilyeva, Gulnar Abylkassymova, Aldiyar Farkhatuly, Sara V. Good, Leyla Djansugurova
Summary: The ethnogenesis of Kazakhs in Central Asia is studied through genetic analysis of 1171 individuals from 24 tribes in Kazakhstan. The majority of Kazakh tribes share diverse patrilineal ancestries, while a smaller fraction can be traced back to a common paternal ancestor. The C2-M217 haplogroup shows high frequency along the southern border of Kazakhstan, corresponding to the Mongolian invasion and the ancient Silk Road.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Xiangyin Liu, Han Zhang, Xinyue Zhang, Hongguo Zhang, Yuting Jiang, Ruizhi Liu, Jia Fei, Ying Wang, Yang Yu
Summary: The NGS method was validated as an alternative to traditional STS-PCR method for detecting Y chromosome microdeletions in infertile men. It not only detects CNV like partial deletion or duplication, but also provides detailed information on the abnormal range and size of variations.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2021)
Article
Surgery
Jerry T. Dang, Andy Deprato, Kevin Verhoeff, Warren Sun, Armaan Pandey, Valentin Mocanu, Shahzeer Karmali, Noah J. Switzer, Ninh T. Nguyen
Summary: There are wide variations in surgical techniques used during laparoscopic Roux-en-Y gastric bypass (LRYGB), including pre- and intraoperative practices. Further research is needed to evaluate the impact of these variations on patient outcomes.
Review
Genetics & Heredity
S. A. Fedorova, V. Zvenigorosky, A. N. Alekseev
Summary: This review presents the results of paleogenetic studies on the ancient population of Yakutia in the Middle Ages. The diversity of haplogroups and STR-haplotypes of the Y-chromosome of 74 men from Yakut burials from the 15th-19th centuries was considered and compared with the data on modern ethnogeographical groups of the Yakuts. A comparison of genetic reconstructions with historical data and the legends of the Sakha people was performed.
RUSSIAN JOURNAL OF GENETICS
(2023)
Article
Archaeology
Anna L. Gosling, Edana Lord, James Boocock, Sophia Cameron-Christie, K. Ann Horsburgh, Olga Kardailsky, Stefan Prost, Stephen Wilcox, David Addison, Adam Thompson, John Kalolo, Andrew C. Clarke, Elizabeth A. Matisoo-Smith
Summary: This study compares the genomic data of the current population and ancient individuals from Tokelau, finding less genetic diversity compared to other Polynesian populations. Rare mitochondrial lineages suggest prehistoric settlement by people from the northwest. Ancient DNA data supports the previous population abandonment and resettlement on Atafu, the northernmost atoll of Tokelau, from a population of Samoan or Samoan-origin. The study also reveals links between Tokelau and other atoll populations in the western Pacific.
JOURNAL OF ISLAND & COASTAL ARCHAEOLOGY
(2023)
Article
Anthropology
Christina M. Balentine, Marta Alfonso-Durruty, Austin W. Reynolds, Miguel Vilar, Flavia Morello, Manuel San Roman, Lauren C. Springs, Rick W. A. Smith, Samantha M. Archer, Jaime Mata-Miguez, Natalie Wing, Deborah A. Bolnick
Summary: This study investigates the genetic histories of ancient hunter-gatherer groups in Fuego-Patagonia with distinct subsistence strategies. The results show that the Marine and Terrestrial groups represent distinct ancestral lineages, with the divergence occurring around 14,000 years ago. These findings suggest independent migrations into the Fuego-Patagonia region.
AMERICAN JOURNAL OF BIOLOGICAL ANTHROPOLOGY
(2023)
Article
Genetics & Heredity
Elshaddai Ephrem, Erica Gleason, Kelly Maurer, Kathleen E. Sullivan
Summary: The study showed that participants performed well in basic knowledge of inheritance and genetics, with no significant association between survey scores and gender or age. However, they struggled with interpreting genetics in real-life scenarios and more nuanced concepts of heredity.
PUBLIC HEALTH GENOMICS
(2021)
Review
Nutrition & Dietetics
Tadesse Tarik Tamir, Masresha Asmare Techane, Melkamu Tilahun Dessie, Kendalem Asmare Atalell
Summary: This study investigated the spatial distribution and determinants of stunting among children aged <5 in Ethiopia using geospatial and multilevel analysis of the Ethiopia Demographic and Health Survey 2019 data. The national prevalence of stunting was 36.81% with significant spatial variations across Ethiopia. Spatial clustering of stunting was observed in the northern, northwestern, northeastern, and southwestern parts of Ethiopia. Age and sex of the child, birth interval, birth type, household wealth status, maternal education, region, and community-level illiteracy were identified as significant determinants of stunting.
Article
Nutrition & Dietetics
Mohammed Seid Ali, Tewodros Getaneh Alemu, Masresha Asmare Techane, Chalachew Adugna Wubneh, Nega Tezera Assimamaw, Getaneh Mulualem Belay, Tadesse Tarik Tamir, Addis Bilal Muhye, Destaye Guadie Kassie, Amare Wondim, Bewuketu Terefe, Bethelihem Tigabu Tarekegn, Beletech Fentie, Almaz Tefera Gonete, Berhan Tekeba, Selam Fisiha Kassa, Bogale Kassahun Desta, Amare Demsie Ayele, Melkamu Tilahun Dessie, Kendalem Asmare Atalell
Summary: This study aimed to investigate the spatial variation and determinant factors of underweight among children under 5 years of age in Ethiopia. The results showed significant spatial variation of underweight in Ethiopia, with higher prevalence in the northern and eastern parts of the country. The factors associated with underweight include child's sex, age, wealth index, and region.
Article
History
S. Z. Chernov, N. N. Goncharova, A. S. Semenov
Summary: This study aims to determine the Y-DNA and mtDNA haplogroups of two early medieval Slavic burials at Bolshevo-1 burial ground, and to provide an interpretation of their historical, archaeological, and anthropological significance. The comparison of skulls from Bolshevo-1 suggests a proximity to the Serbian and West Slavic series. The Y-DNA haplogroups E1b1b and J2a1, as well as the mitochondrial haplogroup H1e1b, indicate components of the Danube and Baltic regions in the ethnogenesis of the Krivichi tribe.
Article
Genetics & Heredity
Giulia Colombo, Luca Traverso, Lucia Mazzocchi, Viola Grugni, Nicola Rambaldi Migliore, Marco Rosario Capodiferro, Gianluca Lombardo, Rodrigo Flores, Monika Karmin, Siiri Rootsi, Luca Ferretti, Anna Olivieri, Antonio Torroni, Rui Martiniano, Alessandro Achilli, Alessandro Raveane, Ornella Semino
Summary: This study provides a comprehensive and updated phylogeny of Native American Y-chromosome based on the sequence information from modern and ancient individuals. The findings suggest that the genetic diversity of early Native American populations was greater than that of modern indigenous populations. Additionally, the study provides new insights into the early peopling of South American hinterland and overlying inland migrations based on the analysis of newly identified Y-chromosome branches.
Article
Biochemistry & Molecular Biology
Gianluca Lombardo, Nicola Rambaldi Migliore, Giulia Colombo, Marco Rosario Capodiferro, Giulio Formenti, Manuela Caprioli, Elisabetta Moroni, Leonardo Caporali, Hovirag Lancioni, Simona Secomandi, Guido Roberto Gallo, Alessandra Costanzo, Andrea Romano, Maria Garofalo, Cristina Cereda, Valerio Carelli, Lauren Gillespie, Yang Liu, Yosef Kiat, Alfonso Marzal, Cosme Lopez-Calderon, Javier Balbontin, Timothy A. Mousseau, Piotr Matyjasiak, Anders Pape Moller, Ornella Semino, Roberto Ambrosini, Andrea Bonisoli-Alquati, Diego Rubolini, Luca Ferretti, Alessandro Achilli, Luca Gianfranceschi, Anna Olivieri, Antonio Torroni
Summary: The study investigates the taxonomic status and geographical spread of the barn swallow by analyzing the sequence variation of mitochondrial genomes. It identifies subspecies-specific haplogroups and proposes a model for the worldwide spread of the species. The research also highlights the close link between the barn swallow, climate fluctuations, and human activities, suggesting its importance as an indicator for monitoring the impact of global changes on wildlife.
MOLECULAR BIOLOGY AND EVOLUTION
(2022)
Article
Biotechnology & Applied Microbiology
Alessandro Raveane, Ludovica Molinaro, Serena Aneli, Marco Rosario Capodiferro, Luciana de Gennaro, Linda Ongaro, Nicola Rambaldi Migliore, Sara Soffiati, Teodoro Scarano, Antonio Torroni, Alessandro Achilli, Mario Ventura, Luca Pagani, Cristian Capelli, Anna Olivieri, Francesco Bertolini, Ornella Semino, Francesco Montinaro
Summary: Southern Italy has a complex prehistory and ongoing genetic connections with the Balkans. The study found that Southeastern Italians have high genetic affinity with modern Eastern Peloponnesians, and ancient Greek genomes are closer to specific regions in South Italy than modern Greek genomes. The research also revealed significant genetic differences between Northern and Southern Italy.
Article
Biochemistry & Molecular Biology
Martin Bodner, Christina Amory, Anna Olivieri, Francesca Gandini, Irene Cardinali, Hovirag Lancioni, Gabriela Huber, Catarina Xavier, Maria Pala, Alessandro Fichera, Lisa Schnaller, Mario Gysi, Stefania Sarno, Davide Pettener, Donata Luiselli, Martin B. Richards, Ornella Semino, Alessandro Achilli, Antonio Torroni, Walther Parson
Summary: This study investigates the potential to solve the limitations in forensic applications caused by the high number of matching haplotypes of the most common mitochondrial (mt)DNA lineages. By massively parallel sequencing a large number of mitogenomes, the study found that complete mitogenome sequencing significantly improved discrimination power and did not reveal any phylogeographic trends within Italy.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Multidisciplinary Sciences
Laurie J. Reitsema, Alissa Mittnik, Britney Kyle, Giulio Catalano, Pier Francesco Fabbri, Adam C. S. Kazmi, Katherine L. Reinberger, Luca Sineo, Stefano Vassallo, Rebecca Bernardos, Nasreen Broomandkhoshbacht, Kim Callan, Francesca Candilio, Olivia Cheronet, Elizabeth Curtis, Daniel Fernandes, Martina Lari, Ann Marie Lawson, Matthew Mah, Swapan Mallick, Kirsten Mandl, Adam Micco, Alessandra Modi, Jonas Oppenheimer, Kadir Toykan Ozdogan, Nadin Rohland, Kristin Stewardson, Stefania Vai, Chiara Vergata, J. Noah Workman, Fatma Zalzala, Valentina Zaro, Alessandro Achilli, Achilles Anagnostopoulos, Cristian Capelli, Varnavas Constantinou, Hovirag Lancioni, Anna Olivieri, Anastasia Papadopoulou, Nikoleta Psatha, Ornella Semino, John Stamatoyannopoulos, Ioanna Valliannou, Evangelia Yannaki, Iosif Lazaridis, Nick Patterson, Harald Ringbauer, David Caramelli, Ron Pinhasi, David Reich
Summary: Trade and colonization in the Mediterranean led to increased human mobility, while warfare played a significant role in cultural contact. By studying the genome-wide data of soldiers from the Greek colony of Himera, we found that many soldiers had ancestral origins in northern Europe, the Steppe, and the Caucasus. This highlights the importance of mercenaries in ancient Greek armies and sheds light on the continental-scale human mobility caused by participation in war in the Classical world.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Genetics & Heredity
Vincenza Battaglia, Vincenzo Agostini, Elisabetta Moroni, Giulia Colombo, Gianluca Lombardo, Nicola Rambaldi Migliore, Paolo Gabrieli, Maria Garofalo, Stella Gagliardi, Ludvik M. Gomulski, Luca Ferretti, Ornella Semino, Anna R. Malacrida, Giuliano Gasperi, Alessandro Achilli, Antonio Torroni, Anna Olivieri
Summary: The study investigates the variation of mitochondrial genomes in tiger mosquitoes, improving the understanding of their phylogeny and revealing their Asian origins for global spread. The geographic distribution of mitochondrial genome variation in tiger mosquitoes has been influenced by clonal and sub-clonal founder events, leading to distinct genetic differences in different regions.
FRONTIERS IN GENETICS
(2022)
Article
Cell Biology
Simona Secomandi, Guido R. Gallo, Marcella Sozzoni, Alessio Iannucci, Elena Galati, Linelle Abueg, Jennifer Balacco, Manuela Caprioli, William Chow, Claudio Ciofi, Joanna Collins, Olivier Fedrigo, Luca Ferretti, Arkarachai Fungtammasan, Bettina Haase, Kerstin Howe, Woori Kwak, Gianluca Lombardo, Patrick Masterson, Graziella Messina, Anders P. Moller, Jacquelyn Mountcastle, Timothy A. Mousseau, Joan Ferrer Obiol, Anna Olivieri, Arang Rhie, Diego Rubolini, Marielle Saclier, Roscoe Stanyon, David Stucki, Francoise Thibaud-Alquati, James Torrance, Antonio Torroni, Kristina Weber, Roberto Ambrosini, Andrea Bonisoli-Alquati, Erich D. Jarvis, Luca Gianfranceschi, Giulio Formenti
Summary: This study provides a chromosome-level reference genome and pangenome for the barn swallow, allowing for the identification of potentially conserved and accelerated genes and the inference of core and accessory genes. These resources will facilitate population genomics studies, aid in detecting candidate genes in comparative genomics studies, and reduce bias towards a single reference genome.
Article
Genetics & Heredity
Leonardo Caporali, Claudio Fiorini, Flavia Palombo, Martina Romagnoli, Flavia Baccari, Corrado Zenesini, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Danara Ormanbekova, Agatino Battaglia, Raffaella Tancredi, Cinzia Cameli, Marta Viggiano, Anna Olivieri, Antonio Torroni, Elena Maestrini, Magali Jane Rochat, Elena Bacchelli, Valerio Carelli, Alessandra Maresca
Summary: Research has found that mtDNA plays a role in the development and expression of ASD, particularly with a protective effect from paternal mtDNA in the Italian population. Additionally, ASD patients have lower mtDNA content. Further confirmation is needed in larger independent cohorts.
FRONTIERS IN GENETICS
(2022)
Article
Multidisciplinary Sciences
Sophie K. Joseph, Nicola Rambaldi Migliore, Anna Olivieri, Antonio Torroni, Amanda C. Owings, Michael DeGiorgio, Wladimir Galarza Ordonez, J. J. Ortiz Aguilu, Fabricio Gonzalez-Andrade, Alessandro Achilli, John Lindo
Summary: Most studies on human high-altitude adaptation in the Andes have focused on Peruvian populations. A new study presents whole genome data from Indigenous people living in the Ecuadorian highlands and identifies unique genetic adaptations related to cardiovascular, hypoxia, and immune function. The findings suggest that Indigenous people in Ecuador may have adapted to tuberculosis thousands of years before the arrival of Europeans and experienced a more severe population collapse upon contact with Europeans compared to other Andean populations.
Article
Cell Biology
Yu -Chun Li, Zong-Liang Gao, Kai -Jun Liu, Jiao-Yang Tian, Bin-Yu Yang, Zia Ur Rahman, Li-Qin Yang, Su-Hua Zhang, Cheng-Tao Li, Alessandro Achilli, Ornella Semino, Antonio Torroni, Qing-Peng Kong
Summary: While it is known that Native Americans descended from Siberia, the discovery of a genetic link between Native Americans and populations in East China and Thailand suggests that the ancestral origins of early Native Americans may be more diverse than previously thought. Through analysis of contemporary and ancient D4h mitochondrial genomes, it was found that there were two waves of D4h radiation in northern coastal China. This facilitated the dispersal of D4h sub-branches to different regions, including the Americas and Japan, supporting the hypothesis of coastal migration of early Native Americans.
Meeting Abstract
Anthropology
Sophie K. Joseph, Alessandro Achilli, Nicola Rambaldi Migliore, Anna Olivieri, Antonio Torroni, Amanda Owings, Michael Degiorgio, Wladimir Galarza Ordonez, J. J. Ortiz Aguilu, Fabricio Gonzalez-Andrade, John Lindo
AMERICAN JOURNAL OF BIOLOGICAL ANTHROPOLOGY
(2023)