Antonio Torroni
Antonio Torroni
e-mail:
affiliation: Università di Pavia
research area(s): Genetics And Genomics
Course: Genetics, Molecular and Cellular Biology
University/Istitution: Università di Pavia
Antonio Torroni, born in Rome (Italy) in 1961, is Professor of Genetics (since 2000), Coordinator of the PhD Program in Genetics, Molecular and Cell Biology (since 2011), and one of the Coordinators of the Strategic Theme of the University of Pavia "MIGRATions: towards an INterdisciplinary Governance model". Since 2014 he is also Visiting Professor at the University of Huddersfield (UK). He was Vice-Chancellor for Research of the University of Pavia (2010-2013), Coordinator of the PhD program in Genetic and Biomolecular Sciences (2002-2011) and Director of the PhD School in Life Sciences "Camillo Golgi" (2006-2011). He graduated in Biological Sciences at the University “La Sapienza” of Rome in 1984 and received his PhD in Genetic Sciences (and Molecular Biology) from the University of Pavia in 1988. He was a Postdoctoral fellow (1989) and then Assistant Professor (1990-1994) at the Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta (USA). He taught and carried out research activity as Assistant Professor (Ricercatore) at the Dept. of Genetics and Molecular Biology, University “La Sapienza” of Rome (1994-1998), and as Associate Professor at the Institute of Biological Chemistry, University of Urbino (1998-2000). His main research interests include the study of genetic variation in human and animal populations. He is a leading expert in human mitochondrial DNA variation and his studies have provided important contributions to the definition of the origin, evolution and dispersal process of human populations as well as the role played by "normal" sequence variation of human mitochondrial DNA in some pathologies. He has authored 187 papers in international peer-reviewed journals, with over 16,500 citations and a Web of Science H-index of 69. Many of these papers have been published in high impact journals and received great attention from the international scientific community and media.
Prof. Antonio Torroni is a member of the research group "Genetics and Genomics of Human and Animal Populations" of the Department of Biology and Biotechnology (University of Pavia), which aims to reconstruct, based on genetic and genomic data, the evolutionary history and demographic events that have involved present and past human populations (at both micro and macro-geographic levels) and some animals (mainly domestic animals and those living in close contact with our species). Genetic findings can be easily employed also in multidisciplinary studies involving apparently far away scientific and cultural contexts, from forensics to history, archaeology, linguistics, anthropology, education and public health. His research activity is currently focused on the following topics:

1) Origin of populations from Europe and the Mediterranean area
The demographic and genetic history of Europe and surrounding regions is extremely complex. The purpose of this research is to investigate, through the analysis of modern and ancient DNA genomes, what aspects of the variability of European populations can be traced back to the first colonization of the continent by modern humans, to post - glacial expansions, the Neolithic diffusion and (or) more recent events of gene flow. Over the years our studies on this general topic have been very productive and have used as the main tool of investigation the two non-recombinant genetic systems [the mitochondrial DNA (mtDNA) and the male-specific region of the Y chromosome (MSY)], which we are now integrating with genome-wide analyses.

2) The peopling of the Americas: a genetic perspective
The first peopling of the New World is a hot topic in genetics and anthropology. Archaeology, linguistics and genetics agree on the Asian origin of Native Americans. However, the arrival times of the first settlers, the number of migrations / expansions involved in the process and in the subsequent colonization of Central and South America, as well as the genetic consequences of the flourishing of the great Mesoamerican and Andean civilizations are still extensively debated. To clarify these issues, sequence analyses of the two non-recombinant genetic systems (MSY and mtDNA), both at the micro- and macro-geographic levels, are carried out in several modern populations and some ancient samples. In some contexts, these studies are integrated by genome-wide analyses at the nuclear level.

3) Identification of new pathological mtDNA mutations and the roles of mitochondrial backgrounds (haplogroups) in disease expression and environmental adaptation
The mitochondrial ATP production by the oxidative phosphorylation is essential for the maintenance of normal functions of organs and tissues. MtDNA mutations, by interfering with ATP synthesis, can cause serious maternally-transmitted diseases. The search for new disease-causing mtDNA mutations is carried out mainly on Leber's Optic Neuropathy (LHON). In recent years, an important role of the "neutral" sequence variation of mtDNA has also been postulated for many complex diseases and other phenotypes (aging, athletic performance). To evaluate also these aspects, we are sequencing entire mitogenomes from numerous human populations and building up a database that includes representatives of each mtDNA haplogroup and sub-haplogroup present in our species.

4) Origin and spread of the Asian tiger mosquito (Aedes albopictus)
Over the last 40 years, the tiger mosquito Aedes albopictus, indigenous to East Asia, has colonized every continent except Antarctica. Its spread has become a growing public health concern, being a competent vector for many arboviruses including those causing West Nile fever, yellow fever, Dengue fever, Saint Louis encephalitis and the recently emerged Zika fever.
The current study involves the definition and analysis of mitogenome sequence variation in samples from numerous African, European and American populations, in order to identify the ancestral Asian source(s) of Ae. albopictus adventive populations and their possible selective advantages as well as migration routes and expansion times.
Note: The total number of publications in international journals is 187, with over 16,500 citations. The current H-index is 69 (Web of Science).

178) Richards MB, Soares P, Torroni A. Palaeogenomics: mitogenomes and migrations in Europe's past. Curr Biol 26:R243-246 (2016).

179) Gandini F, Achilli A, Pala M, Bodner M, Brandini S, Huber G, Egyed B, Ferretti L, Gómez-Carballa A, Salas A, Scozzari R, Cruciani F, Coppa A, Parson W, Semino O, Soares P, Torroni A, Richards MB, Olivieri A. Mapping human dispersals into the Horn of Africa from Arabian ice age refugia using mitogenomes. Sci Rep 6:25472 (2016).

180) Lazaridis I, Nadel D, Rollefson G, Merrett DC, Rohland N, Mallick S, Fernandes D, Novak M, Gamarra B, Sirak K, Connell S, Stewardson K, Harney E, Fu Q, Gonzalez-Fortes G, Jones ER, Roodenberg SA, Lengyel G, Bocquentin F, Gasparian B, Monge JM, Gregg M, Eshed V, Mizrahi AS, Meiklejohn C, Gerritsen F, Bejenaru L, Blüher M, Campbell A, Cavalleri G, Comas D, Froguel P, Gilbert E, Kerr SM, Kovacs P, Krause J, McGettigan D, Merrigan M, Merriwether DA, O'Reilly S, Richards MB, Semino O, Shamoon-Pour M, Stefanescu G, Stumvoll M, Tönjes A, Torroni A, Wilson JF, Yengo L, Hovhannisyan NA, Patterson N, Pinhasi R, Reich D. Genomic insights into the origin of farming in the ancient Near East. Nature 536:419-424 (2016).

181) Battaglia V, Gabrieli P, Brandini S, Capodiferro MR, Javier PA, Chen XG, Achilli A, Semino O, Gomulski LM, Malacrida AR, Gasperi G, Torroni A, Olivieri A. The worldwide spread of the tiger mosquito as revealed by mitogenome haplogroup diversity. Front Genet. 7:208 (2016).

182) Olivieri A, Sidore C, Achilli A, Angius A, Posth C, Furtwängler A, Brandini S, Rosario Capodiferro M, Gandini F, Zoledziewska M, Pitzalis M, Maschio A, Busonero F, Lai L, Skeates R, Giuseppina Gradoli M, Beckett J, Marongiu M, Mazzarello V, Marongiu P, Rubino S, Rito T, Macaulay V, Semino O, Pala M, Abecasis GR, Schlessinger D, Conde-Sousa E, Soares P, Richards MB, Cucca F, Torroni A. Mitogenome diversity in Sardinians: a genetic window onto an island's past.
Mol Biol Evol. 34:1230-1239 (2017).

183) Pereira JB, Costa MD, Vieira D, Pala M, Bamford L, Harich N, Cherni L, Alshamali F, Hatina J, Rychkov S, Stefanescu G, King T, Torroni A, Soares P, Pereira L, Richards MB. Reconciling evidence from ancient and contemporary genomes: a major source for the European Neolithic within Mediterranean Europe. Proc Biol Sci. 284(1851) (2017)

184) Sahakyan H, Hooshiar Kashani B, Tamang R, Kushniarevich A, Francis A, Costa MD, Pathak AK, Khachatryan Z, Sharma I, van Oven M, Parik J, Hovhannisyan H, Metspalu E, Pennarun E, Karmin M, Tamm E, Tambets K, Bahmanimehr A, Reisberg T, Reidla M, Achilli A, Olivieri A, Gandini F, Perego UA, Al-Zahery N, Houshmand M, Sanati MH, Soares P, Rai E, Šarac J, Šarić T, Sharma V, Pereira L, Fernandes V, Černý V, Farjadian S, Singh DP, Azakli H, Üstek D, Ekomasova Trofimova N, Kutuev I, Litvinov S, Bermisheva M, Khusnutdinova EK, Rai N, Singh M, Singh VK, Reddy AG, Tolk HV, Cvjetan S, Lauc LB, Rudan P, Michalodimitrakis EN, Anagnou NP, Pappa KI, Golubenko MV, Orekhov V, Borinskaya SA, Kaldma K, Schauer MA, Simionescu M, Gusar V, Grechanina E, Govindaraj P, Voevoda M, Damba L, Sharma S, Singh L, Semino O, Behar DM, Yepiskoposyan L, Richards MB, Metspalu M, Kivisild T, Thangaraj K, Endicott P, Chaubey G, Torroni A, Villems R. Origin and spread of human mitochondrial DNA haplogroup U7. Sci Rep.7:46044 (2017)

185) Santangelo R, González-Andrade F, Børsting C, Torroni A, Pereira V, Morling N. Analysis of Ancestry Informative Markers in three main ethnic groups from Ecuador supports a trihybrid origin of Ecuadorians. Forensic Sci Int Genet. 31:29-33 (2017).

186) Pignataro D, Francia S, Zanetta F, Brenna G, Brandini S, Olivieri A, Torroni A, Biamonti G, Montecucco A. A missense MT-ND5 mutation in differentiated Parkinson Disease cytoplasmic hybrid induces ROS-dependent DNA Damage Response amplified by DROSHA. Sci Rep. 7:9528 (2017).

187) Brandini S, Bergamaschi P, Cerna MF, Gandini F, Bastaroli F, Bertolini E, Cereda C, Ferretti L, Gómez-Carballa A, Battaglia V, Salas A, Semino O, Achilli A, Olivieri A, Torroni A. The Paleo-Indian entry into South America according to mitogenomes. Mol Biol Evol. (in press).
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