Portrait of Dr Maria Pala Dr Maria Pala

m.pala@hud.ac.uk | 01484 472273


I graduated in Natural Sciences (Laurea, MSc equivalent) from the University of Sassari, Italy, in 2003 (final Mark 110/110 cum laude).

In 2003 I moved to the Molecular Genetics Institute, CNR of Pavia, Italy, where I worked for one year as a research assistant under the supervision of Prof. L. Luca Cavalli-Sforza on the project “Creation of a cell line bank of the Italian population”.

On January 2008 I obtained my Ph.D. in “Genetic and Biomolecular Science” (University of Pavia) under the supervision of Prof. Antonio Torroni. Dissertation title: "Mitochondrial DNA: a female perspective in human evolution". During my Ph.D. I was awarded a Marie Curie Fellowship for "Early-Stage Training in Advanced Genetic Analysis" programme at the University of Leeds. Supervisor: Professor Martin Richards.

Between 2008–2009 I worked, first as a Research Assistant and then as a Post-Doctoral Research Fellow, at the Laboratory of Human Genetics, Department of Genetics and Microbiology, University of Pavia, under the supervision of Prof. Antonio Torroni.

In 2009 I moved to the University of Leeds, UK, as a Newton Post-Doctoral Fellow, working on the project “Origins and expansion of mitochondrial DNA haplogroup HV and the modern human settlement of West Eurasia”, under the supervision of Prof. Martin Richards, Archaeogenetics Laboratory, Institute of Integrative and Comparative Biology (IICB), University of Leeds, Leeds, UK.

In 2011, I was appointed by the University of Huddersfield as a Senior Research Fellow in Archaeogenetics.

Research and Scholarship

During my research career I’ve worked mainly on the analysis of human mitochondrial DNA variability in Western Eurasia with particular focus on the Late Glacial and postglacial repopulation of Europe. This line of research led us to identify the first genetic evidence for an expansion from the hypothetical Italian glacial refugium that had been proposed on archaeological grounds. The paper "Mitochondrial haplogroup U5b3: a distant echo of the Epipaleolithic in Italy and the legacy of the early Sardinians" (Pala et al. 2009) was published as a report in The American Journal of Human Genetics. Following this, in 2012, the analysis of J and T sister haplogroups allowed us to propose, for the first time, the idea that the Near East region also played an important role in the re-peopling of Europe after the Ice Age – which had not been recognised previously by either archaeologists or geneticists. According to our study, the stream of movements from the Near East into Europe was not limited to the canonical Upper Palaeolithic (when Europe was firstly occupied by Homos sapiens) and Neolithic (when agriculture was introduced from the Fertile Crescent) migrations, but was also significant during the Late Glacial and postglacial periods. Therefore according to our new interpretation the Near East was an additional major glacial refugial source from which human groups expanded into Europe when climatic conditions improved after the Last Glacial Maximum. The paper "Mitochondrial DNA Signals of Late Glacial Re-colonization of Europe from Near Eastern Refugia" (Pala et al. 2012) was also published in The American Journal of Human Genetics. This paper was among the four selected by the Editors for the ( "This Month in The Journal" section ); it was highlighted as "the most downloaded paper from our website" on the Journal’s Facebook page on May 23rd 2012, and even commended by the senior editor.

Although European mitochondrial DNA variation has been my primary topic of research during these past years, my interests have varied more widely. I’ve collaborated on several projects regarding Africa ("The mtDNA legacy of the Levantine Early Upper Palaeolithic in Africa", Science 2006), the peopling of the Americas ("Distinctive Paleo-Indian migration routes from Beringia marked by two rare mtDNA haplogroups", Current Biology 2009; featured on the cover of the January 13th issue) and of Asia ("Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): a reservoir of genetic variation", BMC Evol. Biol. 2009).

I’ve also collaborated on the analysis of mitochondrial variability in domesticated animals such as cattle ("Mitochondrial genomes of extinct aurochs survive in domestic cattle", Current Biology 2008; featured in the cover of the February 26th issue) and investigations into the link between human mitochondrial variability and disease ("Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease", Hum. Mol. Genet. 2008).

Please see the Archaeogenetics Research Group website for further details of Maria’s current and recent research projects.

Publications and Other Research Outputs


Olivieri, A., Sidore, C., Achilli, A., Angius, A., Posth, C., Furtw�ngler, A., Brandini, S., Capodiferro, M., Gandini, F., Zoledziewska, M., Pitzalis, M., Maschio, A., Busonero, F., Lai, L., Skeates, R., Gradoli, M., Beckett, J., Marongiu, M., Mazzarello, V., Marongiu, P., Rubino, S., Rito, T., Macaulay, V., Semino, O., Pala, M., Abecasis, G., Schlessinger, D., Conde-Sousa, E., Soares, P., Richards, M., Cucca, F. and Torroni, A. (2017) ‘Mitogenome diversity in Sardinians: a genetic window onto an island's pastMolecular Biology and Evolution , 34 (5), pp. 1230-1239. ISSN 0737-4038

Silva, M., Oliveira, M., Vieira, D., Brand�o, A., Rito, T., Pereira, J., Fraser, R., Hudson, B., Gandini, F., Edwards, C., Pala, M., Koch, J., Wilson, J., Pereira, L., Richards, M. and Soares, P. (2017) ‘A genetic chronology for the Indian Subcontinent points to heavily sex-biased dispersalsBMC Evolutionary Biology , 17 (1). ISSN 1471-2148

Pereira, J., Costa, M., 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. and Richards, M. (2017) ‘Reconciling evidence from ancient and contemporary genomes: a major source for the European Neolithic within Mediterranean EuropeProceedings of the Royal Society B: Biological Sciences , 284 (1851), p. 20161976. ISSN 0962-8452


Pala, M., Soares, P. and Richards, M. (2016) ‘Archaeogenetic and Palaeogenetic Evidence for Metal Age Mobility in Europe’. In: Atlantic Europe in the Metal Ages — questions of shared language. : Oxbow Books. pp. 321-344. ISBN 9781785702273

Gandini, F., Achilli, A., Pala, M., Bodner, M., Brandini, S., Huber, G., Egyed, B., Ferretti, L., G�mez-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 mitogenomesScientific Reports , 6 (25472). ISSN 2045-2322

Brand�o, A., Eng, K., Rito, T., Cavadas, B., Bulbeck, D., Gandini, F., Pala, M., Mormina, M., Hudson, B., White, J., Ko, T., Saidin, M., Zafarina, Z., Oppenheimer, S., Richards, M., Pereira, L. and Soares, P. (2016) ‘Quantifying the legacy of the Chinese Neolithic on the maternal genetic heritage of Taiwan and Island Southeast AsiaHuman Genetics , 135 (4), pp. 363-376. ISSN 0340-6717

Soares, P., Trejaut, J., Rito, T., Cavadas, B., Hill, C., Eng, K., Mormina, M., Brand�o, A., Fraser, R., Wang, T., Loo, J., Snell, C., Ko, T., Amorim, A., Pala, M., Macaulay, V., Bulbeck, D., Wilson, J., Gusm�o, L., Pereira, L., Oppenheimer, S., Lin, M. and Richards, M. (2016) ‘Resolving the ancestry of Austronesian-speaking populationsHuman Genetics , 135 (3), pp. 309-326. ISSN 0340-6717


Gomes, V., Pala, M., Salas, A., �lvarez-Iglesias, V., Amorim, A., G�mez-Carballa, A., Carracedo, �., Clarke, D., Hill, C., Mormina, M., Shaw, M., Dunne, D., Pereira, R., Pereira, V., Prata, M., S�nchez-Diz, P., Rito, T., Soares, P., Gusm�o, L. and Richards, M. (2015) ‘Mosaic maternal ancestry in the Great Lakes region of East AfricaHuman Genetics , 134 (9), pp. 1013-1027. ISSN 0340-6717

Pala, M., Soares, P., Chaubey, G. and Richards, M. (2015) ‘Archaeogenetics’. In: The Cambridge World History Volume 2. Cambridge, UK: Cambridge University Press. pp. 26-54. ISBN 9780521192187


Morelli, L., Useli, A., Sanna, D., Barbato, M., Contu, D., Pala, M., Cancedda, M. and Francalacci, P. (2014) ‘Mitochondrial DNA lineages of Italian Giara and Sarcidano horsesGenetics and Molecular Research , 13 (4), pp. 8241-8257. ISSN 16765680

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 IntoleranceHuman Mutation , 35 (8), pp. 954-958. ISSN 10597794

Pala, M., Chaubey, G., Soares, P. and Richards, M. (2014) ‘The archaeogenetics of European ancestry’. In: Encyclopaedia of LIfe Sciences. Chichester, UK: Wiley. .


Costa, M., Pereira, J., Pala, M., Fernandes, V., Olivien, A., Achilli, A., Perego, U., Rychkov, S., Naumova, O., Hatina, J., Woodward, S., Eng, K., Macaulay, V., Carr, M., Soares, P., Pereira, L. and Richards, M. (2013) ‘A substantial prehistoric European ancestry amongst Ashkenazi maternal lineagesNature Communications , 4 (2543). ISSN 2041-1723

Olivieri, A., Pala, M., Gandini, F., Kashani, B., Perego, U., Woodward, S., Grugni, V., Battaglia, V., Semino, O., Achilli, A., Richards, M. and Torroni, A. (2013) ‘Mitogenomes from Two Uncommon Haplogroups Mark Late Glacial/Postglacial Expansions from the Near East and Neolithic Dispersals within EuropePLoS ONE , 8 (7), p. e70492. ISSN 1932-6203

Caporali, L., Ghelli, A., Iommarini, L., Maresca, A., Valentino, M., La Morgia, C., Liguori, R., Zanna, C., Barboni, P., De Nardo, V., Martinuzzi, A., Rizzo, G., Tonon, C., Lodi, R., Calvaruso, M., Cappelletti, M., Porcelli, A., Achilli, A., Pala, M., Torroni, A. and Carelli, V. (2013) ‘Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesionsBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease , 1832 (3), pp. 445-452. ISSN 09254439


Achilli, A., Iommarini, L., Olivieri, A., Pala, M., Hooshiar Kashani, B., Reynier, P., La Morgia, C., Valentino, M., Liguori, R., Pizza, F., Barboni, P., Sadun, F., De Negri, A., Zeviani, M., Dollfus, H., Moulignier, A., Ducos, G., Orssaud, C., Bonneau, D., Procaccio, V., Leo-Kottler, B., Fauser, S., Wissinger, B., Amati-Bonneau, P., Torroni, A. and Carelli, V. (2012) ‘Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic NeuropathyPLoS ONE , 7 (8), p. e42242. ISSN 1932-6203

Karachanak, S., Carossa, V., Nesheva, D., Olivieri, A., Pala, M., Hooshiar Kashani, B., Grugni, V., Battaglia, V., Achilli, A., Yordanov, Y., Galabov, A., Semino, O., Toncheva, D. and Torroni, A. (2012) ‘Bulgarians vs the other European populations: a mitochondrial DNA perspectiveInternational Journal of Legal Medicine , 126 (4), pp. 497-503. ISSN 0937-9827

Pala, M., Olivieri, A., Achilli, A., Accetturo, M., Metspalu, E., Reidla, M., Tamm, E., Karmin, M., Reisberg, T., Hooshiar Kashani, B., Perego, U., Carossa, V., Gandini, F., Pereira, J., Soares, P., Angerhofer, N., Rychkov, S., Al-Zahery, N., Carelli, V., Sanati, M., Houshmand, M., Hatina, J., Macaulay, V., Pereira, L., Woodward, S., Davies, W., Gamble, C., Baird, D., Semino, O., Villems, R., Torroni, A. and Richards, M. (2012) ‘Mitochondrial DNA Signals of Late Glacial Recolonization of Europe from Near Eastern RefugiaThe American Journal of Human Genetics , 90 (5), pp. 915-924. ISSN 0002-9297


Al-Zahery, N., Pala, M., Battaglia, V., Grugni, V., Hamod, M., Hooshiar Kashani, B., Olivieri, A., Torroni, A., Santachiara-Benerecetti, A. and Semino, O. (2011) ‘In search of the genetic footprints of Sumerians: a survey of Y-chromosome and mtDNA variation in the Marsh Arabs of IraqBMC Evolutionary Biology , 11 (1), p. 288. ISSN 1471-2148

Achilli, A., Olivieri, A., Pala, M., Hooshiar Kashani, B., Carossa, V., Perego, U., Gandini, F., Santoro, A., Battaglia, V., Grugni, V., Lancioni, H., Sirolla, C., Bonfigli, A., Cormio, A., Boemi, M., Testa, I., Semino, O., Ceriello, A., Spazzafumo, L., Gadaleta, M., Marra, M., Testa, R., Franceschi, C. and Torroni, A. (2011) ‘Mitochondrial DNA Backgrounds Might Modulate Diabetes Complications Rather than T2DM as a WholePLoS ONE , 6 (6), p. e21029. ISSN 1932-6203

Sanna, D., Pala, M., Cossu, P., Dedola, G., Melis, S., Fresu, G., Morelli, L., Obinu, D., Tonolo, G., Secchi, G., Triunfo, R., Lorenz, J., Scheinfeldt, L., Torroni, A., Robledo, R. and Francalacci, P. (2011) ‘Mendelian breeding units versus standard sampling strategies: mitochondrial DNA variation in southwest SardiniaGenetics and Molecular Biology , 34 (2), pp. 187-194. ISSN 1415-4757


Perego, U., Angerhofer, N., Pala, M., Olivieri, A., Lancioni, H., Hooshiar Kashani, B., Carossa, V., Ekins, J., Gomez-Carballa, A., Huber, G., Zimmermann, B., Corach, D., Babudri, N., Panara, F., Myres, N., Parson, W., Semino, O., Salas, A., Woodward, S., Achilli, A. and Torroni, A. (2010) ‘The initial peopling of the Americas: A growing number of founding mitochondrial genomes from BeringiaGenome Research , 20 (9), pp. 1174-1179. ISSN 1088-9051


Ghelli, A., Porcelli, A., Zanna, C., Vidoni, S., Mattioli, S., Barbieri, A., Iommarini, L., Pala, M., Achilli, A., Torroni, A., Rugolo, M. and Carelli, V. (2009) ‘The Background of Mitochondrial DNA Haplogroup J Increases the Sensitivity of Leber's Hereditary Optic Neuropathy Cells to 2,5-Hexanedione ToxicityPLoS ONE , 4 (11), p. e7922. ISSN 1932-6203

Fornarino, S., Pala, M., Battaglia, V., Maranta, R., Achilli, A., Modiano, G., Torroni, A., Semino, O. and Santachiara-Benerecetti, S. (2009) ‘Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): a reservoir of genetic variationBMC Evolutionary Biology , 9 (1), p. 154. ISSN 1471-2148

Pala, M., Achilli, A., Olivieri, A., Hooshiar Kashani, B., Perego, U., Sanna, D., Metspalu, E., Tambets, K., Tamm, E., Accetturo, M., Carossa, V., Lancioni, H., Panara, F., Zimmermann, B., Huber, G., Al-Zahery, N., Brisighelli, F., Woodward, S., Francalacci, P., Parson, W., Salas, A., Behar, D., Villems, R., Semino, O., Bandelt, H. and Torroni, A. (2009) ‘Mitochondrial Haplogroup U5b3: A Distant Echo of the Epipaleolithic in Italy and the Legacy of the Early SardiniansThe American Journal of Human Genetics , 84 (6), pp. 814-821. ISSN 0002-9297

Battaglia, V., Fornarino, S., Al-Zahery, N., Olivieri, A., Pala, M., Myres, N., King, R., Rootsi, S., Marjanovic, D., Primorac, D., Hadziselimovic, R., Vidovic, S., Drobnic, K., Durmishi, N., Torroni, A., Santachiara-Benerecetti, A., Underhill, P. and Semino, O. (2009) ‘Y-chromosomal evidence of the cultural diffusion of agriculture in southeast EuropeEuropean Journal of Human Genetics , 17 (6), pp. 820-830. ISSN 1018-4813

Achilli, A., Bonfiglio, S., Olivieri, A., Malus�, A., Pala, M., Hooshiar Kashani, B., Perego, U., Ajmone-Marsan, P., Liotta, L., Semino, O., Bandelt, H., Ferretti, L. and Torroni, A. (2009) ‘The Multifaceted Origin of Taurine Cattle Reflected by the Mitochondrial GenomePLoS ONE , 4 (6), p. e5753. ISSN 1932-6203

Cormio, A., Milella, F., Marra, M., Pala, M., Lezza, A., Bonfigli, A., Franceschi, C., Cantatore, P. and Gadaleta, M. (2009) ‘Variations at the H-strand replication origins of mitochondrial DNA and mitochondrial DNA content in the blood of type 2 diabetes patientsBiochimica et Biophysica Acta (BBA) - Bioenergetics , 1787 (5), pp. 547-552. ISSN 0005-2728

Coudray, C., Olivieri, A., Achilli, A., Pala, M., Melhaoui, M., Cherkaoui, M., El-Chennawi, F., Kossmann, M., Torroni, A. and Dugoujon, J. (2009) ‘The Complex and Diversified Mitochondrial Gene Pool of Berber PopulationsAnnals of Human Genetics , 73 (2), pp. 196-214. ISSN 0003-4800

Perego, U., Achilli, A., Angerhofer, N., Accetturo, M., Pala, M., Olivieri, A., Hooshiar Kashani, B., Ritchie, K., Scozzari, R., Kong, Q., Myres, N., Salas, A., Semino, O., Bandelt, H., Woodward, S. and Torroni, A. (2009) ‘Distinctive Paleo-Indian Migration Routes from Beringia Marked by Two Rare mtDNA HaplogroupsCurrent Biology , 19 (1), pp. 1-8. ISSN 0960-9822


Pello, R., Martin, M., Carelli, V., Nijtmans, L., Achilli, A., Pala, M., Torroni, A., Gomez-Duran, A., Ruiz-Pesini, E., Martinuzzi, A., Smeitink, J., Arenas, J. and Ugalde, C. (2008) ‘Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial diseaseHuman Molecular Genetics , 17 (24), pp. 4001-4011. ISSN 0964-6906

La Morgia, C., Achilli, A., Iommarini, L., Barboni, P., Pala, M., Olivieri, A., Zanna, C., Vidoni, S., Tonon, C., Lodi, R., Vetrugno, R., Mostacci, B., Liguori, R., Carroccia, R., Montagna, P., Rugolo, M., Torroni, A. and Carelli, V. (2008) ‘Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonusNeurology , 70 (10), pp. 762-770. ISSN 0028-3878


Olivieri, A., Achilli, A., Pala, M., Battaglia, V., Fornarino, S., Al-Zahery, N., Scozzari, R., Cruciani, F., Behar, D., Dugoujon, J., Coudray, C., Santachiara-Benerecetti, S., Semino, O., Bandelt, H. and Torroni, A. (2007) ‘Response to Timing of a Back-Migration into AfricaScience , 316 (5821), pp. 50-53. ISSN 0036-8075

Achilli, A., Olivieri, A., Pala, M., Metspalu, E., Fornarino, S., Battaglia, V., Accetturo, M., Kutuev, I., Khusnutdinova, E., Pennarun, E., Cerutti, N., Di Gaetano, C., Crobu, F., Palli, D., Matullo, G., Santachiara-Benerecetti, A., Cavalli-Sforza, L., Semino, O., Villems, R., Bandelt, H., Piazza, A. and Torroni, A. (2007) ‘Mitochondrial DNA Variation of Modern Tuscans Supports the Near Eastern Origin of EtruscansThe American Journal of Human Genetics , 80 (4), pp. 759-768. ISSN 0002-9297


Olivieri, A., Achilli, A., Pala, M., Battaglia, V., Fornarino, S., Al-Zahery, N., Scozzari, R., Cruciani, F., Behar, D., Dugoujon, J., Coudray, C., Santachiara-Benerecetti, S., Semino, O., Bandelt, H. and Torroni, A. (2006) ‘The mtDNA Legacy of the Levantine Early Upper Palaeolithic in AfricaScience , 314 (5806), pp. 1767-1770. ISSN 0036-8075

Carelli, V., Achilli, A., Valentino, M., Rengo, C., Semino, O., Pala, M., Olivieri, A., Mattiazzi, M., Pallotti, F., Carrara, F., Zeviani, M., Leuzzi, V., Carducci, C., Valle, G., Simionati, B., Mendieta, L., Salomao, S., Belfort, R., Sadun, A. and Torroni, A. (2006) ‘Haplogroup Effects and Recombination of Mitochondrial DNA: Novel Clues from the Analysis of Leber Hereditary Optic Neuropathy PedigreesThe American Journal of Human Genetics , 78 (4), pp. 564-574. ISSN 0002-9297


Achilli, A., Rengo, C., Battaglia, V., Pala, M., Oliveri, A., Fornarino, S., Magri, C., Scozzari, R., Babudri, N., Santachiara-Benerecetti, S., Bandelt, H., Semino, O. and Torroni, A. (2005) ‘Saami and Berbers—An Unexpected Mitochondrial DNA LinkThe American Journal of Human Genetics , 76 (5), pp. 883-886. ISSN 0002-9297