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  1. AU="Alessandro Achilli"
  2. AU="Julià Blanco"
  3. AU=Pardee Arthur B
  4. AU="Moossy, John J"
  5. AU="Ledger, Elizabeth V"
  6. AU="Abichandani, Deepa"
  7. AU="Piccinelli, Fabio"
  8. AU="Malinova, Tsveta S"
  9. AU="Harwood, Janet"
  10. AU=Buscombe John R
  11. AU=Meyer-Rusenberg Birthe
  12. AU="Jiang, Weiyan"
  13. AU="Mills, W"
  14. AU="Pintó, Rosa M."
  15. AU="Voisin, Tiphaine"
  16. AU="Takahashi, Hiromi"
  17. AU="Lin, Johnny"
  18. AU="Lee, Yu-Ru"
  19. AU="Safrankova, J."
  20. AU="Lanting, Linda L"
  21. AU=Koushik Nikhil S
  22. AU="Culhane, John"
  23. AU="Chippada, Appa Rao"
  24. AU="Hiroki Sato" AU="Hiroki Sato"
  25. AU="Al-Amer Eshraq"
  26. AU="Thanacoody, Ruben"
  27. AU="Lin, Chi-Wei"
  28. AU="Chidambaram, Vignesh"

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  1. Artikel ; Online: Author Correction

    Gianni Barcaccia / Giulio Galla / Alessandro Achilli / Anna Olivieri / Antonio Torroni

    Scientific Reports, Vol 11, Iss 1, Pp 1-

    Uncovering the sources of DNA found on the Turin Shroud

    2021  Band 1

    Abstract: An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

    Abstract An amendment to this paper has been published and can be accessed via a link at the top of the paper.
    Schlagwörter Medicine ; R ; Science ; Q
    Sprache Englisch
    Erscheinungsdatum 2021-03-01T00:00:00Z
    Verlag Nature Portfolio
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  2. Artikel ; Online: Genomic evidence for adaptation to tuberculosis in the Andes before European contact

    Sophie K. Joseph / Nicola Rambaldi Migliore / Anna Olivieri / Antonio Torroni / Amanda C. Owings / Michael DeGiorgio / Wladimir Galarza Ordóñez / J.J. Ortiz Aguilú / Fabricio González-Andrade / Alessandro Achilli / John Lindo

    iScience, Vol 26, Iss 2, Pp 106034- (2023)

    2023  

    Abstract: Summary: Most studies focusing on human high-altitude adaptation in the Andean highlands have thus far been focused on Peruvian populations. We present high-coverage whole genomes from Indigenous people living in the Ecuadorian highlands and perform ... ...

    Abstract Summary: Most studies focusing on human high-altitude adaptation in the Andean highlands have thus far been focused on Peruvian populations. We present high-coverage whole genomes from Indigenous people living in the Ecuadorian highlands and perform multi-method scans to detect positive natural selection. We identified regions of the genome that show signals of strong selection to both cardiovascular and hypoxia pathways, which are distinct from those uncovered in Peruvian populations. However, the strongest signals of selection were related to regions of the genome that are involved in immune function related to tuberculosis. Given our estimated timing of this selection event, the Indigenous people of Ecuador may have adapted to Mycobacterium tuberculosis thousands of years before the arrival of Europeans. Furthermore, we detect a population collapse that coincides with the arrival of Europeans, which is more severe than other regions of the Andes, suggesting differing effects of contact across high-altitude populations.
    Schlagwörter Human genetics ; Evolutionary biology ; Anthropology ; Science ; Q
    Sprache Englisch
    Erscheinungsdatum 2023-02-01T00:00:00Z
    Verlag Elsevier
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  3. Artikel ; Online: A Genetic Window on Sardinian Native Horse Breeds through Uniparental Molecular Systems

    Andrea Giontella / Irene Cardinali / Camillo Pieramati / Raffaele Cherchi / Giovanni Paolo Biggio / Alessandro Achilli / Maurizio Silvestrelli / Hovirag Lancioni

    Animals, Vol 10, Iss 1544, p

    2020  Band 1544

    Abstract: Sardinia, an island located to the west of Italy in the Mediterranean Sea, boasts three native horse breeds: Giara, Sarcidano, and Sardinian Anglo-Arab. Here, we have investigated for the first time three loci of the non-recombining region of the Y ... ...

    Abstract Sardinia, an island located to the west of Italy in the Mediterranean Sea, boasts three native horse breeds: Giara, Sarcidano, and Sardinian Anglo-Arab. Here, we have investigated for the first time three loci of the non-recombining region of the Y chromosome (NRY) in 34 stallions from these breeds and performed a phylogenetic analysis of the maternal relationships among 178 previously published mitochondrial control regions. We found that the current NRY diversity of Sardinian horse breeds is linked to three haplotypes (HT), all identified within Sarcidano. Each breed showed a typical HT: HT1 (ancestral) was the most represented in Sarcidano, HT2 (Neapolitan/Oriental wave) in Giara, and HT3 (Thoroughbred wave) in Sardinian Anglo-Arab. The specificity of each haplotype suggests the influence of independent breeding strategies and the effect of genetic drift in each Sardinian population. The female counterpart, extended to 178 horses, showed a low genetic variability and a common maternal origin for Giara and Sarcidano. The higher variability of the Sardinian Anglo-Arab indicates multiple mare lineages in its current population. Further genetic analyses will be crucial to understand the paternal history of male horses, preserve the endangered mares’ and stallions’ lineages, and improve the enhancement of autochthonous genetic resources on this island.
    Schlagwörter native horse breed ; uniparental markers ; horse phylogeny ; Veterinary medicine ; SF600-1100 ; Zoology ; QL1-991
    Sprache Englisch
    Erscheinungsdatum 2020-09-01T00:00:00Z
    Verlag MDPI AG
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  4. Artikel ; Online: Helena’s Many Daughters

    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

    International Journal of Molecular Sciences, Vol 23, Iss 6725, p

    More Mitogenome Diversity behind the Most Common West Eurasian mtDNA Control Region Haplotype in an Extended Italian Population Sample

    2022  Band 6725

    Abstract: The high number of matching haplotypes of the most common mitochondrial (mt)DNA lineages are considered to be the greatest limitation for forensic applications. This study investigates the potential to solve this constraint by massively parallel ... ...

    Abstract The high number of matching haplotypes of the most common mitochondrial (mt)DNA lineages are considered to be the greatest limitation for forensic applications. This study investigates the potential to solve this constraint by massively parallel sequencing a large number of mitogenomes that share the most common West Eurasian mtDNA control region (CR) haplotype motif (263G 315.1C 16519C). We augmented a pilot study on 29 to a total of 216 Italian mitogenomes that represents the largest set of the most common CR haplotype compiled from a single country. The extended population sample confirmed and extended the huge coding region diversity behind the most common CR motif. Complete mitogenome sequencing allowed for the detection of 163 distinct haplotypes, raising the power of discrimination from 0 (CR) to 99.6% (mitogenome). The mtDNAs were clustered into 61 named clades of haplogroup H and did not reveal phylogeographic trends within Italy. Rapid individualization approaches for investigative purposes are limited to the most frequent H clades of the dataset, viz. H1, H3, and H7.
    Schlagwörter massively parallel sequencing ; next-generation sequencing ; forensics ; most common haplotype ; power of discrimination ; mtDNA haplogroup H ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
    Sprache Englisch
    Erscheinungsdatum 2022-06-01T00:00:00Z
    Verlag MDPI AG
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  5. Artikel ; Online: The Mitochondrial DNA Landscape of Modern Mexico

    Martin Bodner / Ugo A. Perego / J. Edgar Gomez / Ricardo M. Cerda-Flores / Nicola Rambaldi Migliore / Scott R. Woodward / Walther Parson / Alessandro Achilli

    Genes, Vol 12, Iss 1453, p

    2021  Band 1453

    Abstract: Mexico is a rich source for anthropological and population genetic studies with high diversity in ethnic and linguistic groups. The country witnessed the rise and fall of major civilizations, including the Maya and Aztec, but resulting from European ... ...

    Abstract Mexico is a rich source for anthropological and population genetic studies with high diversity in ethnic and linguistic groups. The country witnessed the rise and fall of major civilizations, including the Maya and Aztec, but resulting from European colonization, the population landscape has dramatically changed. Today, the majority of Mexicans do not identify themselves as Indigenous but as admixed, and appear to have very little in common with their pre-Columbian predecessors. However, when the maternally inherited mitochondrial (mt)DNA is investigated in the modern Mexican population, this is not the case. Control region sequences of 2021 samples deriving from all over the country revealed an overwhelming Indigenous American legacy, with almost 90% of mtDNAs belonging to the four major pan-American haplogroups A2, B2, C1, and D1. This finding supports a very low European contribution to the Mexican gene pool by female colonizers and confirms the effectiveness of employing uniparental markers as a tool to reconstruct a country’s history. In addition, the distinct frequency and dispersal patterns of Indigenous American and West Eurasian clades highlight the benefit such large and country-wide databases provide for studying the impact of colonialism from a female perspective and population stratification. The importance of geographical database subsets not only for forensic application is clearly demonstrated.
    Schlagwörter forensic science ; haplogroups ; phylogeny ; phylogeography ; MtDNA database ; quality control ; Genetics ; QH426-470
    Thema/Rubrik (Code) 390
    Sprache Englisch
    Erscheinungsdatum 2021-09-01T00:00:00Z
    Verlag MDPI AG
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  6. Artikel ; Online: Most frequent South Asian haplotypes of ACE2 share identity by descent with East Eurasian populations

    Anshika Srivastava / Rudra Kumar Pandey / Prajjval Pratap Singh / Pramod Kumar / Avinash Arvind Rasalkar / Rakesh Tamang / George van Driem / Pankaj Shrivastava / Gyaneshwer Chaubey / Alessandro Achilli

    PLoS ONE, Vol 15, Iss

    2020  Band 9

    Abstract: It was shown that the human Angiotensin-converting enzyme 2 (ACE2) is the receptor of recent coronavirus SARS-CoV-2, and variation in this gene may affect the susceptibility of a population. Therefore, we have analysed the sequence data of ACE2 among 393 ...

    Abstract It was shown that the human Angiotensin-converting enzyme 2 (ACE2) is the receptor of recent coronavirus SARS-CoV-2, and variation in this gene may affect the susceptibility of a population. Therefore, we have analysed the sequence data of ACE2 among 393 samples worldwide, focusing on South Asia. Genetically, South Asians are more related to West Eurasian populations rather than to East Eurasians. In the present analyses of ACE2, we observed that the majority of South Asian haplotypes are closer to East Eurasians rather than to West Eurasians. The phylogenetic analysis suggested that the South Asian haplotypes shared with East Eurasians involved two unique event polymorphisms (rs4646120 and rs2285666). In contrast with the European/American populations, both of the SNPs have largely similar frequencies for East Eurasians and South Asians, Therefore, it is likely that among the South Asians, host susceptibility to the novel coronavirus SARS-CoV-2 will be more similar to that of East Eurasians rather than to that of Europeans.
    Schlagwörter Medicine ; R ; Science ; Q ; covid19
    Thema/Rubrik (Code) 950
    Sprache Englisch
    Erscheinungsdatum 2020-01-01T00:00:00Z
    Verlag Public Library of Science (PLoS)
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  7. Artikel ; Online: Mitochondrial DNA variants of Podolian cattle breeds testify for a dual maternal origin.

    Piera Di Lorenzo / Hovirag Lancioni / Simone Ceccobelli / Licia Colli / Irene Cardinali / Taki Karsli / Marco Rosario Capodiferro / Emine Sahin / Luca Ferretti / Paolo Ajmone Marsan / Francesca Maria Sarti / Emiliano Lasagna / Francesco Panella / Alessandro Achilli

    PLoS ONE, Vol 13, Iss 2, p e

    2018  Band 0192567

    Abstract: Over the past 15 years, 300 out of 6000 breeds of all farm animal species identified by the Food and Agriculture Organization of the United Nations (FAO) have gone extinct. Among cattle, many Podolian breeds are seriously endangered in various European ... ...

    Abstract Over the past 15 years, 300 out of 6000 breeds of all farm animal species identified by the Food and Agriculture Organization of the United Nations (FAO) have gone extinct. Among cattle, many Podolian breeds are seriously endangered in various European areas. Podolian cattle include a group of very ancient European breeds, phenotypically close to the aurochs ancestors (Bos primigenius). The aim of the present study was to assess the genetic diversity of Podolian breeds and to reconstruct their origin.The mitochondrial DNA (mtDNA) control-regions of 18 Podolian breeds have been phylogenetically assessed. Nine non-Podolian breeds have been also included for comparison.The overall analysis clearly highlights some peculiarities in the mtDNA gene pool of some Podolian breeds. In particular, a principal component analysis point to a genetic proximity between five breeds (Chianina, Marchigiana, Maremmana, Podolica Italiana and Romagnola) reared in Central Italy and the Turkish Grey. We here propose the suggestive hypothesis of a dual ancestral contribution to the present gene pool of Podolian breeds, one deriving from Eastern European cattle; the other arising from the arrival of Middle Eastern cattle into Central Italy through a different route, perhaps by sea, ferried by Etruscan boats. The historical migration of Podolian cattle from North Eastern Europe towards Italy has not cancelled the mtDNA footprints of this previous ancient migration.
    Schlagwörter Medicine ; R ; Science ; Q
    Thema/Rubrik (Code) 630
    Sprache Englisch
    Erscheinungsdatum 2018-01-01T00:00:00Z
    Verlag Public Library of Science (PLoS)
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  8. Artikel ; Online: Genetic continuity in the Franco-Cantabrian region

    Alberto Gómez-Carballa / Anna Olivieri / Doron M Behar / Alessandro Achilli / Antonio Torroni / Antonio Salas

    PLoS ONE, Vol 7, Iss 3, p e

    new clues from autochthonous mitogenomes.

    2012  Band 32851

    Abstract: BACKGROUND: The Late Glacial Maximum (LGM), ∼20 thousand years ago (kya), is thought to have forced the people inhabiting vast areas of northern and central Europe to retreat to southern regions characterized by milder climatic conditions. Archaeological ...

    Abstract BACKGROUND: The Late Glacial Maximum (LGM), ∼20 thousand years ago (kya), is thought to have forced the people inhabiting vast areas of northern and central Europe to retreat to southern regions characterized by milder climatic conditions. Archaeological records indicate that Franco-Cantabria might have been the major source for the re-peopling of Europe at the beginning of the Holocene (11.5 kya). However, genetic evidence is still scarce and has been the focus of an intense debate. METHODS/PRINCIPAL FINDINGS: Based on a survey of more than 345,000 partial control region sequences and the analysis of 53 mitochondrial DNA (mtDNA) genomes, we identified an mtDNA lineage, HV4a1a, which most likely arose in the Franco-Cantabrian area about 5.4 kya and remained confined to northern Iberia. CONCLUSIONS/SIGNIFICANCE: The HV4a1a lineage and several of its younger branches reveal for the first time genetic continuity in this region and long-term episodes of isolation. This, in turn, could at least in part explain the unique linguistic and cultural features of the Basque region.
    Schlagwörter Medicine ; R ; Science ; Q
    Thema/Rubrik (Code) 930
    Sprache Englisch
    Erscheinungsdatum 2012-01-01T00:00:00Z
    Verlag Public Library of Science (PLoS)
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  9. Artikel ; Online: Analysis of the human Y-chromosome haplogroup Q characterizes ancient population movements in Eurasia and the Americas

    Viola Grugni / Alessandro Raveane / Linda Ongaro / Vincenza Battaglia / Beniamino Trombetta / Giulia Colombo / Marco Rosario Capodiferro / Anna Olivieri / Alessandro Achilli / Ugo A. Perego / Jorge Motta / Maribel Tribaldos / Scott R. Woodward / Luca Ferretti / Fulvio Cruciani / Antonio Torroni / Ornella Semino

    BMC Biology, Vol 17, Iss 1, Pp 1-

    2019  Band 14

    Abstract: Abstract Background Recent genome studies of modern and ancient samples have proposed that Native Americans derive from a subset of the Eurasian gene pool carried to America by an ancestral Beringian population, from which two well-differentiated ... ...

    Abstract Abstract Background Recent genome studies of modern and ancient samples have proposed that Native Americans derive from a subset of the Eurasian gene pool carried to America by an ancestral Beringian population, from which two well-differentiated components originated and subsequently mixed in different proportion during their spread in the Americas. To assess the timing, places of origin and extent of admixture between these components, we performed an analysis of the Y-chromosome haplogroup Q, which is the only Pan-American haplogroup and accounts for virtually all Native American Y chromosomes in Mesoamerica and South America. Results Our analyses of 1.5 Mb of 152 Y chromosomes, 34 re-sequenced in this work, support a “coastal and inland routes scenario” for the first entrance of modern humans in North America. We show a major phase of male population growth in the Americas after 15 thousand years ago (kya), followed by a period of constant population size from 8 to 3 kya, after which a secondary sign of growth was registered. The estimated dates of the first expansion in Mesoamerica and the Isthmo-Colombian Area, mainly revealed by haplogroup Q-Z780, suggest an entrance in South America prior to 15 kya. During the global constant population size phase, local South American hints of growth were registered by different Q-M848 sub-clades. These expansion events, which started during the Holocene with the improvement of climatic conditions, can be ascribed to multiple cultural changes rather than a steady population growth and a single cohesive culture diffusion as it occurred in Europe. Conclusions We established and dated a detailed haplogroup Q phylogeny that provides new insights into the geographic distribution of its Eurasian and American branches in modern and ancient samples.
    Schlagwörter Human Y-chromosome variation ; Haplogroup Q phylogeny ; Origin of Native Americans ; Origin of Eurasians ; Peopling of the Americas ; Biology (General) ; QH301-705.5
    Sprache Englisch
    Erscheinungsdatum 2019-01-01T00:00:00Z
    Verlag BMC
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  10. Artikel ; Online: Y-chromosome and Surname Analyses for Reconstructing Past Population Structures

    Viola Grugni / Alessandro Raveane / Giulia Colombo / Carmen Nici / Francesca Crobu / Linda Ongaro / Vincenza Battaglia / Daria Sanna / Nadia Al-Zahery / Ornella Fiorani / Antonella Lisa / Luca Ferretti / Alessandro Achilli / Anna Olivieri / Paolo Francalacci / Alberto Piazza / Antonio Torroni / Ornella Semino

    International Journal of Molecular Sciences, Vol 20, Iss 22, p

    The Sardinian Population as a Test Case

    2019  Band 5763

    Abstract: Many anthropological, linguistic, genetic and genomic analyses have been carried out to evaluate the potential impact that evolutionary forces had in shaping the present-day Sardinian gene pool, the main outlier in the genetic landscape of Europe. ... ...

    Abstract Many anthropological, linguistic, genetic and genomic analyses have been carried out to evaluate the potential impact that evolutionary forces had in shaping the present-day Sardinian gene pool, the main outlier in the genetic landscape of Europe. However, due to the homogenizing effect of internal movements, which have intensified over the past fifty years, only partial information has been obtained about the main demographic events. To overcome this limitation, we analyzed the male-specific region of the Y chromosome in three population samples obtained by reallocating a large number of Sardinian subjects to the place of origin of their monophyletic surnames, which are paternally transmitted through generations in most of the populations, much like the Y chromosome. Three Y-chromosome founding lineages, G2-L91, I2-M26 and R1b-V88, were identified as strongly contributing to the definition of the outlying position of Sardinians in the European genetic context and marking a significant differentiation within the island. The present distribution of these lineages does not always mirror that detected in ancient DNAs. Our results show that the analysis of the Y-chromosome gene pool coupled with a sampling method based on the origin of the family name, is an efficient approach to unravelling past heterogeneity, often hidden by recent movements, in the gene pool of modern populations. Furthermore, the reconstruction and comparison of past genetic isolates represent a starting point to better assess the genetic information deriving from the increasing number of available ancient DNA samples.
    Schlagwörter human y-chromosome variation ; haplogroups ; family name origin ; migrations ; peopling of sardinia ; phylogenetics ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
    Thema/Rubrik (Code) 590
    Sprache Englisch
    Erscheinungsdatum 2019-11-01T00:00:00Z
    Verlag MDPI AG
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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