Research Topics
| Antonio TorroniSummaryAffiliation: University of Pavia Country: Italy Publications
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Detail Information
Publications
Most of the extant mtDNA boundaries in south and southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humansMait Metspalu
Institute of Molecular and Cell Biology, Tartu University, Tartu, Estonia
BMC Genet 5:26. 2004..The results were integrated and analyzed together with published data from South, Southeast Asia and West Eurasia...
Phylogeography of mtDNA haplogroup R7 in the Indian peninsulaGyaneshwer Chaubey
Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu and Estonian Biocentre, Tartu, Estonia
BMC Evol Biol 8:227. 2008....
A signal, from human mtDNA, of postglacial recolonization in EuropeA Torroni
Dipartimento di Genetica e Microbiologia, Universita di Pavia, Pavia, Italy
Am J Hum Genet 69:844-52. 2001..Mass screening of a few markers identified using complete mtDNA sequences promises to be an efficient strategy for inferring features of human prehistory...
Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutationAntonio Torroni
Dipartimento di Genetica e Microbiologia, Universita di Pavia, Pavia, Italy
Am J Hum Genet 72:1005-12. 2003....
Harvesting the fruit of the human mtDNA treeAntonio Torroni
Dipartimento di Genetica e Microbiologia, Universita di Pavia, Via Ferrata 1, 27100 Pavia, Italy
Trends Genet 22:339-45. 2006..Here we illustrate the phylogeographic approach with two case studies: the initial dispersal out of Africa, and the colonization of Europe...
Do the four clades of the mtDNA haplogroup L2 evolve at different rates?A Torroni
Dipartimento di Genetica e Microbiologia, Universita di Pavia, Pavia, Italy
Am J Hum Genet 69:1348-56. 2001....
The mtDNA legacy of the Levantine early Upper Palaeolithic in AfricaAnna Olivieri
Dipartimento di Genetica e Microbiologia, , Via Ferrata 1, 27100 Pavia, Italy
Science 314:1767-70. 2006....
Distinctive Paleo-Indian migration routes from Beringia marked by two rare mtDNA haplogroupsUgo A Perego
Dipartimento di Genetica e Microbiologia, Universita di Pavia, 27100 Pavia, Italy
Curr Biol 19:1-8. 2009..In this study, we have instead identified and analyzed mtDNAs belonging to two rare Native American haplogroups named D4h3 and X2a...
Saami and Berbers--an unexpected mitochondrial DNA linkAlessandro Achilli
Dipartimento di Genetica e Microbiologia, , Pavia, Italy
Am J Hum Genet 76:883-6. 2005....
Ancient migratory events in the Middle East: new clues from the Y-chromosome variation of modern IraniansViola Grugni
Dipartimento di Biologia e Biotecnologie, Universita di Pavia, Pavia, Italy
PLoS ONE 7:e41252. 2012..In addition, our results evidence the important role of the Iranian plateau as source and recipient of gene flow between culturally and genetically distinct populations...
Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): a reservoir of genetic variationSimona Fornarino
Dipartimento di Genetica e Microbiologia, Universita di Pavia, Pavia, Italy
BMC Evol Biol 9:154. 2009..Until now, however, investigations on their genetic structure have been scarce mainly identifying East Asian signatures...
Y-chromosomal evidence of the cultural diffusion of agriculture in Southeast EuropeVincenza Battaglia
Dipartimento di Genetica e Microbiologia, Universita di Pavia, Pavia, Italy
Eur J Hum Genet 17:820-30. 2009..The ensuing range expansions of E-V13 and I-M423 parallel in space and time the diffusion of Neolithic Impressed Ware, thereby supporting a case of cultural diffusion using genetic evidence...
Mitochondrial DNA variation of modern Tuscans supports the near eastern origin of EtruscansAlessandro Achilli
Dipartimento di Genetica e Microbiologia, Universita di Pavia, Pavia, Italy
Am J Hum Genet 80:759-68. 2007..Such a genetic contribution has been extensively diluted by admixture, but it appears that there are still locations in Tuscany, such as Murlo, where traces of its arrival are easily detectable...
The multifaceted origin of taurine cattle reflected by the mitochondrial genomeAlessandro Achilli
Dipartimento di Genetica e Microbiologia, Universita di Pavia, Pavia, Italy
PLoS ONE 4:e5753. 2009....
Mitochondrial haplogroup C4c: a rare lineage entering America through the ice-free corridor?Baharak Hooshiar Kashani
Dipartimento di Genetica e Microbiologia, Universita di Pavia, Italy
Am J Phys Anthropol 147:35-9. 2012....
Mitochondrial haplogroup U5b3: a distant echo of the epipaleolithic in Italy and the legacy of the early SardiniansMaria Pala
Dipartimento di Genetica e Microbiologia, Universita di Pavia, Pavia, Italy
Am J Hum Genet 84:814-21. 2009....
The enigmatic origin of bovine mtDNA haplogroup R: sporadic interbreeding or an independent event of Bos primigenius domestication in Italy?Silvia Bonfiglio
Dipartimento di Genetica e Microbiologia, Universita di Pavia, Pavia, Italy
PLoS ONE 5:e15760. 2010..These uncommon haplogroups represent excellent tools to evaluate if sporadic interbreeding or even additional events of cattle domestication occurred...
The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene poolAlessandro Achilli
Dipartimento di Genetica e Microbiologia, , Pavia, Italy
Am J Hum Genet 75:910-8. 2004..The survey revealed that the previously reported excess of H among these families is caused entirely by H3 and is due to a major, probably nonrecent, founder event...
In search of the genetic footprints of Sumerians: a survey of Y-chromosome and mtDNA variation in the Marsh Arabs of IraqNadia Al-Zahery
Dipartimento di Genetica e Microbiologia, Universita di Pavia, Via Ferrata 1, 27100 Pavia, Italy
BMC Evol Biol 11:288. 2011..Popular tradition, however, considers the Marsh Arabs as a foreign group, of unknown origin, which arrived in the marshlands when the rearing of water buffalo was introduced to the region...
Origin and spread of Bos taurus: new clues from mitochondrial genomes belonging to haplogroup T1Silvia Bonfiglio
Dipartimento di Biologia e Biotecnologie L Spallanzani, Universita di Pavia, Pavia, Italy
PLoS ONE 7:e38601. 2012..Whole mitochondrial genome sequence analysis, with its proven effectiveness in improving the resolution of phylogeographic studies, is the most appropriate tool to investigate the origin and structure of haplogroup T1...
Origin, diffusion, and differentiation of Y-chromosome haplogroups E and J: inferences on the neolithization of Europe and later migratory events in the Mediterranean areaOrnella Semino
Dipartimento di Genetica e Microbiologia, Universita di Pavia, 27100 Pavia, Italy
Am J Hum Genet 74:1023-34. 2004..A 7%-22% contribution of Y chromosomes from Greece to southern Italy was estimated by admixture analysis...
Mitochondrial DNA signals of late glacial recolonization of Europe from near eastern refugiaMaria Pala
School of Applied Sciences, University of Huddersfield, Queensgate, Huddersfield, UK
Am J Hum Genet 90:915-24. 2012....
The phylogeny of the four pan-American MtDNA haplogroups: implications for evolutionary and disease studiesAlessandro Achilli
Dipartimento di Genetica e Microbiologia, Universita di Pavia, Pavia, Italy
PLoS ONE 3:e1764. 2008..In addition, the phylogenetic approach also indicates that the pathogenic status proposed for various mtDNA mutations, which actually define branches of Native American haplogroups, was based on insufficient grounds...
Y-chromosome diversity in modern Bulgarians: new clues about their ancestrySena Karachanak
Department of Medical Genetics, Medical University of Sofia, Sofia, Bulgaria
PLoS ONE 8:e56779. 2013....
Does mitochondrial DNA predispose to neuromyelitis optica (Devic's disease)?Gavin Hudson
Brain 131:e93. 2008
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup backgroundGavin Hudson
Mitochondrial Research Group, Department of Ophthalmology and Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
Am J Hum Genet 81:228-33. 2007..Substitutions on MTCYB provide an explanation for these findings, which demonstrate that common genetic variants have a marked effect on the expression of an ostensibly monogenic mtDNA disorder...
Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathyValerio Carelli
Istituto di Clinica Neurologica, , Bologna, Italy
Biochim Biophys Acta 1588:7-14. 2002....
Human mtDNA site-specific variability values can act as haplogroup markersMatteo Accetturo
Dipartimento di Biochimica e Biologia Molecolare, , Bari, Italy
Hum Mutat 27:965-74. 2006....
Molecular dissection of the Y chromosome haplogroup E-M78 (E3b1a): a posteriori evaluation of a microsatellite-network-based approach through six new biallelic markersFulvio Cruciani
Dipartimento di Genetica e Biologia Molecolare, , Rome, Italy
Hum Mutat 27:831-2. 2006....
Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutationsQing Peng Kong
Laboratory of Cellular and Molecular Evolution, and Molecular Biology of Domestic Animals, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China
Hum Mol Genet 15:2076-86. 2006..g. appropriate association studies. Following a guideline based on the phylogenetic knowledge as proposed here could help avoiding similar problems in the future...
Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in europeSiiri Rootsi
Department of Evolutionary Biology, University of Tartu and Estonian Biocentre, Riia, Tartu, Estonia
Am J Hum Genet 75:128-37. 2004..In contrast, I1b2 most likely arose in southern France/Iberia. Similarly to the other subclades, it underwent a postglacial expansion and marked the human colonization of Sardinia approximately 9,000 years ago...
Where west meets east: the complex mtDNA landscape of the southwest and Central Asian corridorLluis Quintana-Murci
Centre National de la Recherche Scientifique CNRS URA 1961, Institut Pasteur, 75724 Paris Cedex 15, France
Am J Hum Genet 74:827-45. 2004....
Phylogeographic analysis of haplogroup E3b (E-M215) y chromosomes reveals multiple migratory events within and out of AfricaFulvio Cruciani
Dipartimento di Genetica e Biologia Molecolare, Universita La Sapienza, 00185 Rome, Italy
Am J Hum Genet 74:1014-22. 2004....
Origin and diffusion of mtDNA haplogroup XMaere Reidla
Department of Evolutionary Biology, Institute of Molecular and Cell Biology, Tartu University and Estonian Biocentre, Tartu, Estonia
Am J Hum Genet 73:1178-90. 2003..The position of X2a in the phylogenetic tree suggests an early split from the other X2 clades, likely at the very beginning of their expansion and spread from the Near East...
Linkage disequilibrium analysis of the human adenosine deaminase (ada) gene provides evidence for a lack of correlation between hot spots of equal and unequal homologous recombinationFulvio Cruciani
Dipartimento di Genetica e Biologia Molecolare, Universita La Sapienza, P le Aldo Moro 5, 00185 Rome, Italy
Genomics 82:20-33. 2003..This observation provides the first evidence for an absence of correlation between hot spots of equal and unequal homologous recombination...
Extensive female-mediated gene flow from sub-Saharan Africa into near eastern Arab populationsMartin Richards
Department of Chemical and Biological Sciences, University of Huddersfield, Huddersfield, United Kingdom
Am J Hum Genet 72:1058-64. 2003....
In search of geographical patterns in European mitochondrial DNAMartin Richards
Department of Chemical and Biological Sciences, University of Huddersfield, Queensgate, United Kingdom
Am J Hum Genet 71:1168-74. 2002..However, the more detailed analyses afforded by molecular sequence data suggest that the explanations for these gradients are likely to be much more complex than those proposed for classical markers...
Founding mothers of Jewish communities: geographically separated Jewish groups were independently founded by very few female ancestorsMark G Thomas
Departments of Biology and Anthropology, The Centre for Genetic Anthropology, University College London, Gower Street, London WC1E 6BT, UK
Am J Hum Genet 70:1411-20. 2002....
The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathyMaria Lucia Valentino
Dipartimento di Scienze Neurologiche, Universita di Bologna, Italy
Ann Neurol 56:631-41. 2004..This finding shows that, in addition to ND6, the ND1 subunit gene is also a mutational hot spot for LHON...
Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of Native American haplogroupsElena B Starikovskaya
Laboratory of Human Molecular Genetics, Institute of Cytology and Genetics, Siberian Division, Russian Academy of Sciences, Novosibirsk 630090, Russia Federation
Ann Hum Genet 69:67-89. 2005....
Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in ItaliansDaniele Ghezzi
Unit of Molecular Neurogenetics, National Neurological Institute, Carlo Besta, Milan, Italy
Eur J Hum Genet 13:748-52. 2005..Our study suggests that haplogroup K might confer a lower risk for PD in Italians, corroborating the idea that the mitochondrial oxidative phosphorylation pathway is involved in the susceptibility to idiopathic PD...
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigreesValerio Carelli
Dipartimento di Scienze Neurologiche, Universita di Bologna, Bologna, Italy
Am J Hum Genet 78:564-74. 2006..The survey of the two sites in 12 of the Brazilian subjects revealed triplasmy in most cases, but there was no evidence of the tetraplasmy that would be expected in the case of mtDNA recombination...
A back migration from Asia to sub-Saharan Africa is supported by high-resolution analysis of human Y-chromosome haplotypesFulvio Cruciani
Dipartimenti di Genetica e Biologia Molecolare, Universita La Sapienza, Rome, Italy
Am J Hum Genet 70:1197-214. 2002..Haplogroup IX Y chromosomes appear to have been involved in such a migration, the traces of which can now be observed mostly in northern Cameroon...
The role of selection in the evolution of human mitochondrial genomesToomas Kivisild
Department of Human and Clinical Genetics, Leiden University Medical Center, 2333 AL Leiden, The Netherlands
Genetics 172:373-87. 2006..We introduce a new calibration method of the mutation rate of synonymous transitions to estimate the coalescent times of mtDNA haplogroups...
Low "penetrance" of phylogenetic knowledge in mitochondrial disease studiesHans Jurgen Bandelt
Department of Mathematics, University of Hamburg, Germany
Biochem Biophys Res Commun 333:122-30. 2005..To further validate our phylogenetic deductions, we completely sequenced two mtDNAs from healthy subjects that nearly match the mtDNAs of two patients, whose sequences gave problematic results...
Single, rapid coastal settlement of Asia revealed by analysis of complete mitochondrial genomesVincent Macaulay
Department of Statistics, University of Glasgow, Glasgow G12 8QQ, Scotland, UK
Science 308:1034-6. 2005..There was an early offshoot, leading ultimately to the settlement of the Near East and Europe, but the main dispersal from India to Australia approximately 65,000 years ago was rapid, most likely taking only a few thousand years...
The African diaspora: mitochondrial DNA and the Atlantic slave tradeAntonio Salas
Unidad de Genética Forense, Instituto de Medicina Legal, Universidad de Santiago de Compostela, Galicia, Spain
Am J Hum Genet 74:454-65. 2004..However, they also indicate that, at least for the moment, considerable caution is warranted when assessing claims to be able to trace the ancestry of particular lineages to a particular locality within modern-day Africa...
'Distorted' mitochondrial DNA sequences in schizophrenic patientsHans Jurgen Bandelt
Eur J Hum Genet 15:400-2; author reply 402-4. 2007
The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder eventDoron M Behar
Rappaport Faculty of Medicine and Research Institute, Technion and Rambam Medical Center, Haifa, Israel
Am J Hum Genet 78:487-97. 2006..We conclude that four founding mtDNAs, likely of Near Eastern ancestry, underwent major expansion(s) in Europe within the past millennium...
Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathyMaria Lucia Valentino
Dipartimento di Scienze Neurologiche, Universita di Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy
Ann Neurol 51:774-8. 2002....
Mitochondrial genomes of extinct aurochs survive in domestic cattleAlessandro Achilli
Curr Biol 18:R157-8. 2008
The mystery of Etruscan origins: novel clues from Bos taurus mitochondrial DNAMarco Pellecchia
Istituto di Zootecnica, Laboratorio di Genetica Animale, Universita Cattolica del Sacro Cuore, Piacenza, Italy
Proc Biol Sci 274:1175-9. 2007..As the Latin philosopher Seneca wrote: Asia Etruscos sibi vindicat (Asia claims the Etruscans back)...
