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
Genetics & Heredity
Irene Cardinali, Martin Bodner, Marco Rosario Capodiferro, Christina Amory, Nicola Rambaldi Migliore, Edgar J. Gomez, Erdene Myagmar, Tumen Dashzeveg, Francesco Carano, Scott R. Woodward, Walther Parson, Ugo A. Perego, Hovirag Lancioni, Alessandro Achilli
Summary: This study provides a detailed analysis of mitochondrial DNA variation in modern Mongolians, revealing their genetic makeup influenced by both Eastern and Western Eurasia. Continuous genetic connections with neighboring Asian populations until recent times were observed, with geographically restricted haplotype-sharing, possibly facilitated by Genghis Khan's Pax Mongolica. Additionally, a genetic connection with Western Eurasian refuges in the late Pleistocene and early Holocene was detected. The research also highlights the link between modern Mongolian mitochondrial lineages and the Silk Route.
FRONTIERS IN GENETICS
(2022)
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
Biochemistry & Molecular Biology
Luisa Sa, Mafalda Almeida, Simon Azonbakin, Erica Matos, Ricardo Franco-Duarte, Alberto Gomez-Carballa, Antonio Salas, Anatole Laleye, Alexandra Rosa, Antonio Brehm, Martin B. Richards, Pedro Soares, Teresa Rito
Summary: This study introduces a founder analysis method, validates its effectiveness by evaluating the age of sub-Saharan mitogenome lineages sampled outside Africa, confirms that lineages in the Americas date to the time of the Atlantic slave trade, and reveals that dispersal signals in North Africa, Southwestern Asia and Europe mainly date to the early Holocene.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Agriculture, Dairy & Animal Science
J. Ramirez-Diaz, S. Cenadelli, V. Bornaghi, G. Bongioni, S. M. Montedoro, A. Achilli, C. Capelli, J. C. Rincon, M. Milanesi, M. M. Passamonti, L. Colli, M. Barbato, J. L. Williams, P. Ajmone Marsan
Summary: Sperm motility is a complex trait influenced by environmental and genetic factors, and is associated with male fertility, oocyte penetration rate, and reproductive success in cattle. A GWAS study was conducted in Italian Holstein bulls to identify candidate regions and genes associated with variations in progressive and total motility. The results identified several genomic regions and genes related to energy homeostasis, membrane functions, sperm-egg interactions, protection against oxidative stress, olfactory receptors, and immune system. These findings contribute to our understanding of the genetic control of sperm motility and may help improve reproductive success.
JOURNAL OF DAIRY SCIENCE
(2023)
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)
Article
Hematology
Silvia Bonfiglio, Lesley-Ann Sutton, Viktor Ljungstrom, Antonella Capasso, Tatjana Pandzic, Simone Westrom, Hassan Foroughi-Asl, Aron Skaftason, Anna Gellerbring, Anna Lyander, Francesca Gandini, Gianluca Gaidano, Livio Trentin, Lisa Bonello, Gianluigi Reda, Csaba Bodor, Niki Stavroyianni, Constantine S. Tam, Robert Marasca, Francesco Forconi, Pahayiotis Panayiotidis, Ingo Ringshausen, Ozren Kaksic, Anna Maria Frustaci, Sunil Iyengar, Marta Coscia, Stephen P. Mulligan, Loic Ysebaert, Vladimir Strugov, Carolina Pavlovsky, Reneta Walewska, Anders Osterborg, Diego Cortese, Pamela Ranghetti, Panagiotis Baliakas, Kostas Stamatopoulos, Lydia Scarfo, Richard Rosenquist, Paolo Ghia
Summary: In this multicenter retrospective study, researchers found that approximately 65% of relapsed patients and 12% of responding patients with chronic lymphocytic leukemia (CLL) on ibrutinib treatment carried hotspot mutations in the BTK and/or PLCG2 genes. The study also identified a predominance of BRAF and IKZF3 mutations in relapsed patients. These findings suggest the presence of additional mechanisms contributing to resistance in patients failing ibrutinib treatment.
Article
Zoology
Marco A. L. Zuffi, Alan J. Coladonato, Gianluca Lombardo, Antonio Torroni, Matilde Boschetti, Stefano Scali, Marco Mangiacotti, Roberto Sacchi
Summary: This study reports the unexpected presence of the Italian wall lizard on Gorgona Island in Tuscany, Italy. Field observations in 2020 confirmed its presence on the island, and GPS points and visual counts were used to assess its distribution and population characteristics. Genetic analysis showed close phylogenetic relationship between the Gorgona population and mainland Tuscany.
ACTA HERPETOLOGICA
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
Leonardo Caporali, Claudio Fiorini, Flavia Palombo, Flavia Baccari, Martina Romagnoli, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Elena Maestrini, Cinzia Cameli, Marta Viggiano, Anna Olivieri, Antonio Torroni, Elena Bacchelli, Magali Rochat, Valerio Carelli, Alessandra Maresca
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)