研究领域
An important part of my recent work has focused on the discipline called “phylogeography”, and the application of molecular genetic techniques, in particular using uniparental markers (mitochondrial DNA and Y chromosome), to the study of the human past.
Among various studies that I am carrying out, during my Master’s internship and the first years of my PhD, I was mostly involved in those concerning the peopling of the American continent. In particular we focused on the peopling of the Southern Cone of South America, and we evaluated migration models to the Americas by using the information contained in Native mitochondrial genomes from North America. The results of these projects have been published, respectively, on PLoS ONE (de Saint Pierre et al, 2012), the American Journal of Physical Anthropology (Hooshiar Kashani et al, 2012) and PNAS (Achilli et al, 2013).
During my PhD I also collaborated with Dr Maria Pala and Prof. Martin Richards on the analysis of J and T sister haplogroups, which led to the proposal of the important role played by the Near Eastern refuge area during the re-colonization of Europe after the Last Glacial Maximum. The results of this study were published on the American Journal of Human Genetics (Pala et al, 2012). In 2013 we further confirmed this hypothesis with another study, in which we expanded and re-analysed the available datasets of two uncommon West Eurasian haplogroups, I and W. Our results showed that haplogroups I and W originated in the Near East during the Last Glacial Maximum or pre-warming period and, like the much more common haplogroups J and T, may have been involved in Late Glacial expansions into Europe starting from the Near East. Thus this data contributed to a better definition of the Late Glacial and postglacial re-peopling of Europe, providing further evidence for the scenario that major population expansions started after the Last Glacial Maximum but before Neolithic times, but also evidencing traces of diffusion events in several I and W subclades dating to the European Neolithic and restricted to Europe (Olivieri et al, 2013).
In the second part of my PhD I focused on a sub-lineage of the Eurasian haplogroup R, called R0a, which is particularly widespread in the Arabian Peninsula and is also found at high frequency in the Horn of Africa, but not in other areas of the African continent. In order to reconstruct the migratory and demographic events that led to its spread in Eastern Africa I performed a phylogeographic analysis of the clade and the results will shortly be submitted for publication (Gandini et al, in prep).
However, mitochondrial DNA is not just a piece of DNA with peculiar features that are informative for evolutionary studies. Mitochondria generate cellular energy in the form of ATP by the process of oxidative phosphorylation. Therefore, the high mutation rate of the mitochondrial genome results not only in the accumulation of the broad spectrum of sequence polymorphisms that give rise to haplogroups and sub-haplogroups, but also in the accumulation of mutations that can cause disease. In the course of my doctoral studies I also contributed to two studies investigating the role of mtDNA mutations in two very particular disease phenotypes, published in Human Mutation (Carossa et al, 2014) and MBC Neurology (La Morgia et al, 2014).
近期论文
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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, M. and Olivieri, A. (2016) ‘Mapping human dispersals into the Horn of Africa from Arabian Ice Age refugia using mitogenomes’ Scientific Reports , 6 (25472). ISSN 2045-2322
Carossa, V., Ghelli, A., Tropeano, C., Valentino, M., Iommarini, L., Maresca, A., Caporali, L., La Morgia, C., Liguori, R., Barboni, P., Carbonelli, M., Rizzo, G., Tonon, C., Lodi, R., Martinuzzi, A., De Nardo, V., Rugolo, M., Ferretti, L., Gandini, F., Pala, M., Achilli, A., Olivieri, A., Torroni, A. and Carelli, V. (2014) ‘A Novel in-Frame 18-bp Microdeletion inMT-CYBCauses a Multisystem Disorder with Prominent Exercise Intolerance’ Human Mutation , 35 (8), pp. 954-958. ISSN 10597794
La Morgia, C., Caporali, L., Gandini, F., Olivieri, A., Toni, F., Nassetti, S., Brunetto, D., Stipa, C., Scaduto, C., Parmeggiani, A., Tonon, C., Lodi, R., Torroni, A. and Carelli, V. (2014) ‘Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions’ BMC Neurology , 14 (1), p. 116. ISSN 1471-2377
Achilli, A., Perego, U., Lancioni, H., Olivieri, A., Gandini, F., Hooshiar Kashani, B., Battaglia, V., Grugni, V., Angerhofer, N., Rogers, M., Herrera, R., Woodward, S., Labuda, D., Smith, D., Cybulski, J., Semino, O., Malhi, R. and Torroni, A. (2013) ‘Reconciling migration models to the Americas with the variation of North American native mitogenomes’ Proceedings of the National Academy of Sciences , 110 (35), pp. 14308-14313. ISSN 00278424
Kivisild, T., Kushniarevich, A., Sivitskaya, L., Danilenko, N., Novogrodskii, T., Tsybovsky, I., Kiseleva, A., Kotova, S., Chaubey, G., Metspalu, E., Sahakyan, H., Bahmanimehr, A., Reidla, M., Rootsi, S., Parik, J., Reisberg, T., Achilli, A., Hooshiar Kashani, B., Gandini, F., Olivieri, A., Behar, D., Torroni, A., Davydenko, O. and Villems, R. (2013) ‘Uniparental Genetic Heritage of Belarusians: Encounter of Rare Middle Eastern Matrilineages with a Central European Mitochondrial DNA Pool’ PLoS ONE , 8 (6), p. e66499. ISSN 1932-6203
Paschou, P., de Saint Pierre, M., Gandini, F., Perego, U., Bodner, M., Gómez-Carballa, A., Corach, D., Angerhofer, N., Woodward, S., Semino, O., Salas, A., Parson, W., Moraga, M., Achilli, A., Torroni, A. and Olivieri, A. (2012) ‘Arrival of Paleo-Indians to the Southern Cone of South America: New Clues from Mitogenomes’ PLoS ONE , 7 (12), p. e51311. ISSN 1932-6203
Kivisild, T., Grugni, V., Battaglia, V., Hooshiar Kashani, B., Parolo, S., Al-Zahery, N., Achilli, A., Olivieri, A., Gandini, F., Houshmand, M., Sanati, M., Torroni, A. and Semino, O. (2012) ‘Ancient Migratory Events in the Middle East: New Clues from the Y-Chromosome Variation of Modern Iranians’ PLoS ONE , 7 (7), p. e41252. ISSN 1932-6203
Kashani, B., Perego, U., Olivieri, A., Angerhofer, N., Gandini, F., Carossa, V., Lancioni, H., Semino, O., Woodward, S., Achilli, A. and Torroni, A. (2011) ‘Mitochondrial haplogroup C4c: A rare lineage entering America through the ice-free corridor?’ American Journal of Physical Anthropology , 147 (1), pp. 35-39. ISSN 0002-9483
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