Universitą degli Studi di Pavia - Facoltą di Scienze MMFFNN

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Torroni Antonio

Qualifica:
Professore ordinario
Ricevimento:
Tutti i giorni feriali previo appuntamento (telefonico o per posta elettronica)
E-mail:
antonio.torroni (at) unipv.it
Telefono:
+39 0382 985563
Fax:
+39 0382 528496
Sito web:
http://dipartimenti.unipv.eu/on-dip/genmic/Home.html
Dipartimento:
Dipartimento di Biologia e Biotecnologie 'L. Spallanzani'

Elenco corsi

2012/2013
Genetica
2012/2013
Genetica della conservazione (Biologia sperimentale e applicata)
2012/2013
Genetica della conservazione (Scienze della natura)

+ Altri anni accademici

2011/2012
Genetica A
2011/2012
Genetica B
2011/2012
Genetica della conservazione
2010/2011
Biologia evoluzionistica
2010/2011
Genetica A
2010/2011
Genetica B
2010/2011
Genetica della conservazione (Biologia sperimentale ed applicata)
2010/2011
Genetica della conservazione (Scienze della Natura)
2009/2010
Citogenetica e laboratorio di genetica umana
2009/2010
Genetica A
2009/2010
Genetica B
2009/2010
Genetica della conservazione
2008/2009
Citogenetica e laboratorio di genetica umana
2008/2009
Citologia e istologia - corso B
2008/2009
Citologia e istologia – corso A
2008/2009
Fondamenti di genetica
2008/2009
Genetica I
2007/2008
Citogenetica e laboratorio di genetica umana
2007/2008
Citologia e istologia – corso A
2007/2008
Citologia ed istologia – corso B
2007/2008
Fondamenti di genetica

Elenco appelli e prove

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Curriculum

FORMAZIONE:

1988: Dottorato in Scienze Genetiche (Genetica e Biologia Molecolare), Universitą di Pavia.

1984: Laurea con lode in Scienze Biologiche, Universitą di Roma "La Sapienza".

ESPERIENZA PROFESSIONALE:

2010 – presente: ProRettore alla Ricerca dell'Universitą di Pavia.

2009 – presente: Coordinatore del "Gruppo Ricerca" dell'Universitą di Pavia.

2011 – presente: Coordinatore del Dottorato in Genetica, Biologia Molecolare e Cellulare dell'Universitą di Pavia.

2000 – presente: Professore Ordinario di Genetica (BIO/18), Facoltą di Scienze MM.FF.NN., Dip. di Biologia e Biotecnologie “L. Spallanzani”, Universitą di Pavia.

2006 – 2011: Direttore della Scuola di Dottorato in Scienze della Vita "C. Golgi" dell'Universitą di Pavia.

2002 – 2011: Coordinatore del Dottorato in Scienze Genetiche e Biomolecolari dell'Universitą di Pavia.

1998 – ottobre 2000: Professore Associato di Genetica, Facoltą di Scienze MM.FF.NN., Istituto di Chimica Biologica, Universitą di Urbino.

1994 – 1998: Ricercatore Universitario, Facoltą di Scienze MM.FF.NN., Dipartimento di Genetica e Biologia Molecolare  “C. Darwin”, Universitą di Roma "La Sapienza".

1991: Professore a contratto per l'insegnamento di Genetica (corso di laurea in Scienze Naturali) presso l'Universitą degli Studi della Calabria (Arcavacata, Cosenza).

1990 – 1994: Assistant Professor, Department of Genetics and Molecular Medicine and Center for Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia, USA.

1989 – 1990: Postdoctoral Scholar presso il laboratorio diretto dal Prof. Douglas C. Wallace, Department of Genetics and Molecular Medicine, Emory University, Atlanta, Georgia, USA. 

PREMI:

1985. Premio del Comitato Sanremo Genetica Umana per partecipare agli studi popolazionistici sui polimorfismi del DNA mitocondriale condotti nel Dipartimento di Genetica e Microbiologia, Universitą di Pavia.

1991. Vincitore del Premio Giuseppe Montalenti  "Scienza, Tecnologia e Cultura per l'Uomo e L'Ambiente", per il lavoro "Native American mitochondrial DNA analysis indicates that the Amerind and the Nadene populations were founded by two independent migrations". Genetics 130:153-162 (1992).

1994. Vincitore del Premio Gabriel W. Lasker 1992 per l'articolo "American Indian prehistory as written in the mitochondrial DNA: a review". Human Biology 64:403-416 (1992).

ALTRE INFORMAZIONI:

Nel 2007 č stato revisore di “large-scale integrating projects” presentati all'Unione Europea nei settori: Health—2007 (2.1.1-1, 2.1.1-2, 2.1.1-3, 2.1.1-4) nell'ambito del Settimo Programma Quadro (primo bando).

Nel 2003 e nel 2004 č stato revisore dei progetti di finanziamento STREP/CA "Life Sciences, genomics and biotechonology for health" presentati all'Unione Europea nell'ambito del Sesto Programma Quadro (secondo e terzo bando).

E' stato referee per domande di finanziamento presentate a: National Science Foundation (USA), Wellcome Trust (U.K.), Governo della Catalogna, the Portuguese Foundation for Science and Technology, the Research Council of the University of Oulu (Finlandia), the Marsden Fund (Nuova Zelanda), the Grant Agency of the Czech Republic, the Israel Science Foundation, The British Academy (U.K.), the UK India Education and Research Initiative, The National Programme of Cooperative Research from the Spanish Ministry of Health and Consumer's Affairs (Spagna), Pasteur Institute (Francia), The Leverhulme Trust (U.K.), The Natural Science and Engineering Research Council of Canada.

E' stato referee per numerose riviste internazionali tra cui: Science, Proceeding National Academy Science USA, American Journal of Human Genetics, Trends in Genetics, Human Molecular Genetics, European Journal of Human Genetics, Human Genetics, American Journal of Medical Genetics, Journal of Medical Genetics, American Journal of Physical Anthropology, Genetics, Human Genetics, Genome Research, Genomics, Annals of Human Genetics, Human Biology, BMC Genetics, Gene Geography, Nucleic Acids Research, PLoS Medicine, Electrophoresis, Molecular Biology and Evolution, IUBMB Life, Molecular Genetics and Metabolism, BMC Evolutionary Biology, Fertility and Sterility, Annals of Neurology, PLoS ONE, PLoS Biology, Human Mutation, Current Biology.

Dal 1991 al 1996 č stato membro del "Mitocondrial DNA Committee", il cui rapporto era pubblicato ogni anno in "the Human Genome Mapping" ed č ora disponibile al sito http://www.mitomap.org/

Dall’anno 2000 č membro dell’American Society of Human Genetics.

Negli anni 2000 e 2001 č stato membro del Direttivo dell’Associazione Genetica Italiana (AGI).

Ha tenuto seminari, lezioni o corsi presso le Universitą di Bordeaux e Lione (Francia), Amburgo e Dresda (Germania), Emory, Georgia  Tech, Yale, Cold Spring Harbor, Salt Lake City (USA), Gran Canaria, Barcellona (Spagna), Kyoto (Giappone), Budapest (Ungheria), Helsinki  (Finlandia), Cambridge (U.K.), Tartu (Estonia), Brno (Repubblica Ceca), Zagabria (Croazia), Teheran e Isfahan (Iran).

I risultati di alcuni studi e pubblicazioni sono stati oggetto dei seguenti articoli ed editoriali:

·           Gibbons A. “Geneticists trace the DNA trail of the First Americans”. Science 259:312-313 (1993).

 

·           Fishman J. “Going to the old: ancient DNA draws a crowd”. Science 262:655-656 (1993).

 

·           Szathmary EJE. “mtDNA and the peopling of the Americas”. Am J Hum Genet 53:793-799 (1993).

 

·           Weiss KM.  “American origins”. Proc Natl Acad Sci USA 91:833-835 (1994).

 

·           "DNA dates for first Americans”. Science News 145: 126 (1994).

 

·           Gibbons A. “The peopling of the Americas”. Science 274:31-33 (1996).

 

·           Morrel V. “Genes may link ancient Eurasian, Native Americans”. Science 280:520 (1998).

 

·           Gibbons A. “Evolutionary genetics. Europeans trace ancestry to Paleolithic people”. Science 290:1080-1081 (2000).

 

·           Goebel T. “Anthropology.The missing years for modern humans”. Science 315:194-196 (2007).

Questi studi sono stati ripresi e divulgati dai seguenti quotidiani:

·           “Americas' discovery: How the Indians arrived”. THE ATLANTA CONSTITUTION (13 febbraio 1993).

 

·           “La huella de los primeros americanos”. EL PAIS (March 5, 1993).

 

·           “Torroni: Los indios americanos proceden de tres tribus asiaticas”. LA PROVINCIA (Editorial Prensa Canaria) (March 5, 1993).

 

·           “Genetic detectives trace the origin of the first Americans”. USA TODAY  (September 21, 1993).

 

·           “The DNA footprints left by evolution”. USA TODAY  (September 21, 1993).

 

·           “Support emerges for earlier date for migration to North America”. THE NEW YORK TIMES (February 1, 1994).

 

·           “DNA tests may push back prehistoric immigration. Emory researchers track first New World humans”. THE ATLANTA CONSTITUTION (February 1, 1994).

 

·           “Anthropology: looking at DNA to date migration”. WASHINGTON POST (February 7, 1994).

 

·           “Rethinking humankind's ETA”. ATLANTA (March 1994).

 

·           “Genetica. Che colore ha il DNA?”. LA REPUBBLICA DELLE DONNE (April 5, 2003)

 

·           “Evoluzione. I nostri primi passi”. PANORAMA (June 1, 2005).

 

·           “Human migrated out of Africa, then some went back, study says”. NATIONAL GEOGRAPHIC NEWS. (December 14, 2006).

 

·           “Extracomunitari” preistorici”. PANORAMA (December 14, 2006).

 

·           “How the climate changed the story of human evolution”. TELEGRAPH (December 15, 2006).

 

·           “Homo sapiens in Africa: scoperta dei genetisti”. LA PROVINCIA PAVESE (December 20, 2006).

 

·           “Il grande ritorno in Africa dei nostri antenati”. L’UNITA’ (December 18, 2006).

 

·           “I genetisti di Pavia scoprono il segreto degli Etruschi”. IL CORRIERE DELLA SERA (Milano) (February 7, 2007).

 

·           “I genetisti di Pavia sono certi: gli Estruschi vengono dalla Lidia”. LA PROVINCIA PAVESE (February 7, 2007).

 

·           “Erano Turchi gli antenati dei toscani”. IL TIRRENO (February 7, 2007).

 

·           “Il DNA svela il mistero: gli Etruschi vengono da Oriente. L’UNITA’ (February 7, 2007).

 

·           “DNA shows Etruscans comes from Anatolia”. TURKISH DAILY NEWS (February 9, 2007).

 

·           “Genes prove Herodotus right about Etruscans”. TELEGRAPH (February 17, 2007).

 

·           “Gli Etruschi venivano dall’Asia. Lo dicono le mucche” by Luigi Bignami. IL VENERDĢ DI REPUBBLICA (March 16, 2007)

 

·           “DNA boosts Herodotus’ account of Etruscans as migrants to Italy” by Nicholas Wade. THE NEW YORK TIMES (April 3, 2007)

 

·           “New hints on Etruscan origins” by Nicholas Wade. INTERNATIONAL HERALD TRIBUNE (April 5, 2007)

 

·           “Gli Etruschi non sono Europei” by Guido Romeo. IL SOLE 24 ORE (April 12, 2007)

 

·           “In Italia ancora tracce degli uri” LA PROVINCIA PAVESE (February 27, 2008).

 

·           “Gli antichi uri rivono nei buoi” L’UNITA’ (March 3, 2008).

 

·           “Mezzaluna fertile di bovini” LA REPUBBLICA DELLE DONNE (March 1, 2008)

 

·           “Indiani in America 20.000 anni fa” ANSA (March 12, 2008)

 

·           “Gli indiani arrivati in America dalla Siberia. La migrazione svelata dai genetisti pavesi” LA PROVINCIA PAVESE (March 13, 2008).

 

·           “La conquista dell’America avvenne 20mila anni fa” L’UNITA’ (March 17, 2008).

 

·           “First Americans arrived as two separate migrations, according to new genetic evidence” SCIENCE DAILY (January 8, 2009).

 

·           “Sorenson Molecular Genealogy Foundation and University of Pavia study reveals first wave of humans migrating into Americas likely brought along linguistic and cultural diversity” MORNINGSTAR (January 8, 2009).

 

·           “Italians trace Native Americans” ANSA (January 8, 2009).

 

·           "Whence the First Americans?” ScienceNOW Daily News (January 8, 2009).

 

·           “The First Americans? Make that the first two” NEWSWEEK (January 8, 2009).

 

·           “First Americans arrived on 2 separate paths” WASHINGTON POST (January 8, 2009).

 

·           “Italiani riscrivono le origini degli Indiani d'America. L'universitą di Pavia guida lo studio in copertina su "Current Biology" LA STAMPA (January 9, 2009).

 

·           “Ecco le origini degli indiani d’America” LA PROVINCIA PAVESE (January 10, 2009).

·           “I primi a popolare l’America? Due gruppi umani di lingua diversa L’UNITA’ (January 19, 2009).

Temi di ricerca

TEMATICHE DI RICERCA:

(a) Lo studio della variabilitį di sequenza del DNA mitocondriale (e del cromosoma Y) al fine di chiarire l'origine, l'evoluzione, le modalitą e i tempi di dispersione delle popolazioni umane moderne;


(b) La definizione del ruolo svolto dalla variazione di sequenza "normale" e "patologica" del DNA mitocondriale umano in patologie / fenotipi;


(c) La definizione dei luoghi, modi e tempi di domesticazione di alcuni mammiferi (bovini, equini, ovini).




 

 

Progetti di ricerca

La variazione di sequenza del DNA mitocondriale: una prospettiva al femminile dell’evoluzione umana recente

Nella cellula umana quasi tutti i geni (circa 25.000) sono confinati nel nucleo in duplice copia e sono trasmessi in parti uguali dai genitori secondo le leggi di Mendel. I 37 geni del DNA mitocondriale (mtDNA) si trovano, invece, nei mitocondri, organizzati in una piccola molecola circolare di DNA (circa 17.000 coppie di basi). Questa molecola č presente in ogni cellula in centinaia o migliaia di copie ed č trasmessa esclusivamente dalla madre. Il DNA mitocondriale umano č inoltre caratterizzato da un pił elevato tasso evolutivo (10 – 20 volte) rispetto al tasso medio dei geni del nucleo. Perciņ, la sua variazione di sequenza si č generata lungo linee di radiazione materna esclusivamente per l’accumulo sequenziale di nuove mutazioni. Questo significa che l’mtDNA umano č un archivio molecolare della storia e delle migrazioni delle donne che lo hanno trasmesso alle generazioni successive. Poiché questo processo di differenziazione molecolare č relativamente veloce, e ha avuto luogo principalmente durante e dopo il recente processo di colonizzazione e diffusione dell’Uomo moderno in diverse regioni e continenti, i diversi sottoinsiemi (aplogruppi e sottoaplogruppi) della variazione nell’mtDNA tendono a essere circoscritti a differenti aree geografiche e a differenti popolazioni umane. Quindi l'identificazione molecolare degli aplogruppi, la quantificazione della loro variabilitą interna, e l'analisi della loro distribuzione etnico-geografica forniscono dati importanti sull'origine dell'Uomo, sui tempi di colonizzazione di regioni e continenti, e sui processi genetici e demografici che hanno generato le popolazioni moderne. 

Il ruolo della variazione di sequenza "normale" dell'mtDNA nell'espressione di malattie/fenotipi

La produzione di ATP mitocondriale mediante la fosforilazione ossidativa č essenziale per il mantenimento delle normali funzione di organi e tessuti e sono note numerose mutazioni del DNA mitocondriale (mtDNA) che, interferendo con la sintesi di ATP, causano serie patologie a trasmissione materna. Le mutazioni patologiche dell'mtDNA identificate finora erano probabilmente le pił facili da evidenziare e, secondo molti, rappresentano solo la frazione pił estrema di un gruppo molto pił ampio di mutazioni che pur essendo "naturali" non sono necessariamente "neutrali". In anni recenti, un ruolo della variazione di sequenza "naturale" dell'mtDNA č stato postulato per numerose altre patologie e fenotipi (compreso il processo di invecchiamento) che mancano di un chiaro pattern di trasmissione, e si č ipotizzato che i genotipi "naturali" dell'mtDNA (che possono essere molto divergenti l'uno dall'altro a causa dell'elevato tasso evolutivo dell'mtDNA) possano modulare l'espressione non solo delle mutazioni patologiche dell'mtDNA, ma anche dei genotipi nucleari. E' opinione comune che per verificare queste ipotesi occorra acquisire nuovi dati sulla variazione di sequenza di questi genotipi mitocondriali, e questi si possono ottenere solo mediante sequenziamento di interi genomi mitocondriali. Il laboratorio sta sequenziando e studiando questi genomi cosģ da creare un database di sequenze che includa sequenze complete per ciascuno degli aplogruppi e sottoaplogruppi mitocondriali presenti nella nostra specie.

Modi e tempi di domesticazione di alcuni mammiferi

Dopo aver sviluppato il primo protocollo per il sequenziamento dell'intero mtDNA dei bovini, abbiamo dimostrato che non tutti gli mtDNA taurini dell'Europa sono membri del super-aplogruppo T e delle sue sotto-linee (T1, T2, T3 e T5) – cladi che furono domesticati nel Medio Oriente circa 10.000 anni fa e che da lģ si diffusero con le migrazioni umane e i commerci. Abbiamo anche scoperto che circa il 2% dell'mtDNA bovino appartiene a tre linee rare (aplogruppi P, Q e R), e che la linea R almeno per il momento, č stata osservata solo in razze italiane. Potrebbe derivare quindi da popolazioni italiane autoctone di uri (Bos primigenius) che ora sono estinte. Se confermata, la nostra scoperta potrebbe indicare che ci fu qualcosa di peculiare in Italia, o nelle popolazioni di B. primigenius o nelle pratiche di allevamento del Neolitico. L'Italia fu uno dei rifugi europei durante l’LGM, ma l'espansione post-glaciale delle sue popolazioni fu limitata a Nord dalla barriera delle Alpi. Cosģ, č possibile che qualche caratteristica fenotipica unica (es. dimensione o comportamento) degli uri selvatici in Italia possa aver ridotto l'esigenza dei primi agricoltori e allevatori italiani di agire per evitare il loro mescolamento genetico con le mandrie domesticate.

Lo stesso approccio genetico č stato utilizzato pił recentemente per studiare l'origine genetica del cavallo domestico. L'analisi di 83 interi genomi mitocondriali di numerose razze equine (incluso lo Przewalski) hanno permesso l'identificazione almeno 18 linee genetiche ancestrali (aplogruppi), definite ciascuna da uno specifico set di mutazioni e denominate con le lettere dell’alfabeto dalla A alla R. Tutti questi aplogruppi fanno capo a una singola molecola ancestrale esistente circa 140.000 anni fa, durante il periodo glaciale cosiddetto Saale, e da cui derivano tutte le molecole di DNA mitocondriali attualmente presenti nelle razze equine moderne. Le 18 linee sono diffuse in tutte le attuali razze equine, tranne una, denominata F, che č tipica solo ed esclusivamente del cavallo di Przewalski, che di conseguenza, non rappresenta l’antenato dei moderni cavalli. Diverse specie domestiche, come bovini e pecore, hanno subito un unico evento di domesticazione avvenuto nel periodo neolitico (circa 10 mila anni fa) nell’area della Mezzaluna Fertile. Al contrario, i numerosi aplogruppi riscontrati nelle razze equine moderne indicano che la domesticazione del cavallo, pur essendo avvenuta anch’essa in tempi neolitici, abbia interessato un maggior numero di popolazioni selvatiche localizzate in molteplici aree geografiche di tutta l’Eurasia. Questo studio sembra perfino indicare un possibile sito di domesticazione in Europa e pił precisamente nella penisola Iberica, dove i cavalli selvatici non solo sono sempre stati presenti sin dai tempi Paleolitici, ma sono anche sopravvissuti durante l’Ultimo Picco Glaciale - che interessņ l’intero continente Europeo circa 20.000 anni fa - probabilmente rifugiandosi nella medesima area Franco-Cantabrica abitata da molte specie animali, compreso l’Uomo.

Pubblicazioni

Pubblicazioni in extenso su riviste internazionali:

Nota: Il numero totale di pubblicazioni su riviste internazionali č di 161, con circa 12.000 citazioni complessive. L'attuale h-index (ISI) č 60.

1) Ascenzi P, Torroni A, Menegatti E, Guarnieri M, Amiconi G. Catalytic properties of human Lys77-plasmin. A comparative steady-state and pre-steady-state study. Biochim Biophys Acta 832:215-219 (1985).

2) Ascenzi P, Aducci P, Torroni A, Amiconi G, Ballio A, Menegatti E, Guarnieri M. The pH dependence of pre-steady-state and steady-state kinetics for the papain-catalyzed hydrolysis of N-«-carbonbenzoxyglicine p-nitrophenyl ester. Biochim Biophys Acta 912:203-210 (1987).

3) Brega A, Torroni A, Semino O, Maccioni L, Casanova M, Scozzari R, Fellous M, Santachiara-Benerecetti AS. The pl2F2/TaqI Y-specific polymorphism in three groups of Italians and in a sample of Senegalese. Gene Geography 1:201-206 (1987).

4) Santachiara-Benerecetti AS, Scozzari R, Semino O, Torroni A, Brega A, Wallace DC. Mitochondrial DNA polymorphisms in Italy. II. Molecular analysis of new and rare morphs from Sardinia and Rome. Ann Hum Genet 52:39-56 (1988).

5) Scozzari R, Torroni A, Semino O, Sirugo G, Brega A, Santachiara-Benerecetti AS. Genetic studies on the Senegal population. I. Mitochondrial DNA polymorphisms. Am J Hum Genet 43:534-544 (1988).

6) Torroni A, Raimondi E, Ferretti L, Daielli C, Santachiara-Benerecetti AS, De Carli L, Sgaramella V. Isolation and mapping of a polymorphic DNA sequence (AMC,34) on the chromosome 2 (D2S63). Nucleic Acids Res 16:9061 (1988).

7) Semino O, Torroni A, Scozzari R, Brega A, De Benedictis G,  Santachiara-Benerecetti AS. Mitochondrial DNA polymorphisms in Italy. III. Population data from Sicily: a possible quantitation of maternal African ancestry. Ann Hum Genet 53:193-202 (1989).

8) Torroni A, Semino O, Rose G, De Benedictis G, Brancati C, Santachiara-Benerecetti AS. Mitochondrial DNA polymorphisms in the Albanian population of Calabria (Southern Italy). Int J Anthropol 5:97-104 (1990).

9) Torroni A, Semino O, Scozzari R, Sirugo G, Spedini G, Casanova M, Fellous M, Santachiara-Benerecetti AS. Y chromosome DNA polymorphisms in human populations. Important differences between Caucasoids and Africans detected by 49a and 49f probes. Ann Hum Genet 54:287-296 (1990).

10) Torroni A, Stepien G, Hodge J, Wallace DC. Neoplastic transformation is associated with coordinate induction of nuclear and cytoplasmic oxidative phosphorylation genes. J Biol Chem 265:20589-20593 (1990).

11) Semino O, Torroni A, Scozzari R, Brega A, Santachiara-Benerecetti AS. Mitochondrial DNA polymorphisms among Hindus: A comparison with the Tharus of Nepal. Ann Hum Genet 55:123-136 (1991).

12) Semino O, Torroni A, Ferretti L, Santachiara-Benerecetti AS. Two additional MspI RFLPs revealed by MC.34 (D2S63). Nucleic Acids Res 19:6345 (1991).

13) Shoffner JM, Watts RL, Juncos JL, Torroni A, Wallace DC. Mitochondrial oxidative phosphorylation defects in Parkinson Disease. Ann Neurol 30:332-339 (1991).

14) Wallace DC, Lott MT, Torroni A, Shoffner JM. Report of the committee on human mitochondrial DNA. Cytogenet Cell Genet 58:1103-1123 (1991).

15) Ballinger SW, Schurr TG, Torroni A, Gan YY, Hodge JA, Hassan K, Chen K-H, Wallace DC. Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations. Genetics 130:139-152 (1992).

16) Brown MD, Voljavec AS, Lott MT, Torroni A, Yang C-C, Wallace DC. Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics 130:163-173 (1992).

17) Brown MD, Torroni A, Shoffner JM, Wallace DC. Mitochondrial tRNAThr mutations and lethal infantile mitochondrial myopathy. Am J Hum Genet 51:446-447 (1992).

18) Brown MD, Yang C-C, Trounce I, Torroni A, Lott MT, Wallace DC. A mitochondrial DNA variant identified in Leber's Hereditary Optic Neuropathy patients which extends the amino acid sequence of cytochrome c oxidase subunit I. Am J Hum Genet 51:378-385 (1992).

19) Stepien G, Torroni A, Chung A, Hodge JA, Wallace DC. Differential expression of adenine nucleotide translocator isoforms in mammalian tissues and during muscle cell differentiation. J Biol Chem 267:14592-14597 (1992).

20) Torroni A, Schurr TG, Yang C-C, Szathmary EJE, Williams RC, Schanfield MS, Troup GA, Knowler WC, Lawrence DN, Weiss KM, Wallace DC. Native American mitochondrial DNA analysis indicates that the Amerind and the Nadene populations were founded by two independent migrations. Genetics 130:153-162 (1992). 

21) Wallace DC, Torroni A. American Indian prehistory as written in the mitochondrial DNA-A review. Hum Biol 64:403-416 (1992).

22) Wallace DC, Lott MT, Torroni A, Brown MD. Report of the committee on human mitochondrial DNA. Chromosome Coordinating Meeting 1992. Cytogenetics and Cell Genetics, Ed. H.P. Klinger. pp. 727-757.

23) Wallace DC, Shoffner JM, Watts RL, Juncos JL, Torroni A. Mitochondrial oxidative phosphorylation defects in Parkinson's disease. Ann Neurol 32:113-114 (1992).

24) Shoffner JM, Brown MD, Torroni A, Lott MT, Cabell M, Mirra SS, Beal MF, Yang C-C, Gearing M, Salvo R, Watts RL, Juncos JL, Hansen LA, Crain BJ, Fayad M, Reckord CL, Wallace DC. Mitochondrial DNA variants observed in Alzheimer and Parkinson disease patients. Genomics 17:171-184 (1993).

25) Torroni A, Schurr TG, Cabell MF, Brown MD, Neel JV, Larsen M, Smith DG, Vullo CM, Wallace DC. Asian affinities and continental radiation of the four founding Native American mitochondrial DNAs. Am J Hum Genet 53:563-590 (1993).

26) Torroni A, Sukernik RI, Schurr TG, Starikovskaya YB, Cabell MF, Crawford MH, Comuzzie AG, Wallace DC. Mitochondrial DNA variation of aboriginal Siberians reveals distinct genetic affinities with Native Americans. Am J Hum Genet 53:591-608 (1993).

27) Haraguchi Y, Chung AB, Torroni A, Stepien G, Shoffner JM, Wasmuth JJ, Costigan DA, Polak M, Altherr R, Winokur ST, Wallace DC. Genetic mapping of human heart-skeletal muscle adenine nucleotide translocator and its relationship to the facio scapulo-humeral muscular dystrophy locus. Genomics 16:479-485 (1993).

28) Santachiara-Benerecetti AS, Semino O, Passarino G, Torroni A, Brdicka R, Fellous M, Modiano G. The common, near-Eastern origin of Ashkenazi and Sephardi Jews supported by Y-chromosome similarity. Ann Hum Genet 57:55-64 (1993).

29) Moore LG, Zamudio S, Curran-Everett L, Torroni A, Jorde LB, Shohet RV, Thupten, Drolkar T. Genetic adaptation to high altitude. In: Advances in Exercise and Sports Medicine (ed: Steve Wood) as part of the series Lung Biology and Health (exec. ed.: Claude Lenfant), Marcel Dekker Inc. Publ. pp. 225-262 (1993).

30) Brown MD, Torroni A, Huoponen K, Chen Y-S, Lott MT, Wallace DC. Pathological significance of the mtDNA np C0XIII mutation at nucleotide pair 9438 in Leber's hereditary optic neuropathy. Am J Hum Genet 55:410 (1994).

31) Newman NJ, Torroni A, Brown MD, Lott MT, Marquez-Fernandez M, Wallace DC and the Cuban National Operative Group. Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's Hereditary Optic Neuropathy patients. Am J Opthalmol 118:158-168 (1994).

32) Scozzari R, Torroni A, Semino O, Cruciani F, Spedini G, Santachiara Benerecetti AS. Genetic studies in Cameroon: Mitochondrial DNA polymorphisms in Bamileke. Hum Biol 66:1-12 (1994).

33) Torroni A, Chen Y-S, Semino O, Santachiara-Beneceretti AS, Scott RC, Lott MT, Winter M, Wallace DC. Mitochondrial DNA and Y-chromosome polymorphisms in four Native American populations from Southern Mexico. Am J Hum Genet 54:303-318 (1994). 

34) Torroni A, Miller JA, Moore LG, Zamudio S, Zhuang J, Droma T, Wallace DC. Mitochondrial DNA analysis in Tibet: implications for the origin of the Tibetan population and its adaptation to high altitude. Am J Phys Anthropol 93:189-199 (1994).

35) Torroni A, Neel JV, Barrantes R, Schurr TG, Wallace DC. A mitochondrial DNA "clock" for the Amerinds and its implications for timing their entry into North America. Proc Natl Acad Sci USA 91:1158-1162 (1994).

36) Torroni A, Wallace DC. Mitochondrial DNA variation in human populations and implications for detection of mitochondrial DNA mutations of pathological significance. J Bioenerg Biomembr 26:261-271 (1994).

37) Wallace DC, Lott MT, Torroni A, Brown MD, Shoffner JM. Mitochondrial DNA Committee Report. In: A. Jamie Cuticcchia and Peter L. Pearson (eds). Human Gene Mapping, 1993: A Compendium. The Johns Hopkins University Press, Baltimore, Maryland (1994).

38) Torroni A, Lott MT, Cabell MF, Chen Y-S, Lavergne L, Wallace DC. Mitochondrial DNA and the origin of Caucasians. Identification of  ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region. Am J Hum Genet 55:760-776 (1994).

39) Parenti F, Torroni A. Archeologia preistorica e analisi del DNA mitocondriale nella questione del popolamento delle Americhe. Rivista di Antropologia 72:1-14 (1994).

40) Torroni A, Wallace DC. Mitochondrial DNA haplogroups in Native Americans. Am J Hum Genet 56:1234-1236 (1995).

41) Zerylnick C, Torroni A, Sherman SL, Warren ST.  Normal variation at the myotonic dystrophy locus in global human populations. Am J Hum Genet 56:123-130 (1995).

42) Wallace DC, Lott MT, Brown MD, Huoponen K, Torroni A. Mitochondrial DNA Committee Report. In: A. Jamie Cuticchia and Peter L. Pearson (eds). Human Gene Mapping, 1994: A Compendium. The Johns Hopkins University Press, Baltimore, Maryland. (1995).  Internet access to this report through the World Wide Web at site http://infinity.gen.emory.edu/

43) Brown MD, Torroni A, Reckord CL, Wallace DC. Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA’s indicates multiple independent occurrences of the common mutations. Hum Mutat 6:311-325 (1995).

44) Torroni A, Brown MD, Lott MT, Newman NJ, Wallace DC and the Cuban National Operative Group on Epidemic Neuropathy.  African, Native American and European mitochondrials DNAs in Cubans from the Pinar del Rio Province and implications for the recent epidemic neuropathy in Cuba. Hum Mutat 5:310-317 (1995).

45) Torroni A, Petrozzi M, Santolamazza P, Sellitto D, Cruciani F, Scozzari R.  About the "Asian"-specific 9-bp deletion of mtDNA ....  Am J Hum Genet 57: 507-508 (1995).

46) Chen Y-S, Torroni A, Excoffier L, Santachiara-Benerecetti AS, Wallace DC.  Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups. Am J Hum Genet 57:133-149 (1995).

47) Newman NJ, Torroni A, Brown MD, Lott MT, Wallace DC, Philen R, Roman GC. Cuban optic neuropathy. Neurology 45:397 (1995).

48) Kunst CB, Zerylnick C, Karickhoff L, Eichler E, Bullard J, Chalifoux M, Holden JJA, Torroni A, Nelson DL, Warren ST. FMR1 in global populations. Am J Hum Genet 58:513-522 (1996).

49) Torroni A, Carelli C, Petrozzi M, Terracina M, Barboni P, Malpassi P, Wallace DC, Scozzari R. Detection of the mtDNA 14484 mutation on an African-specific haplotype. Implications about its role in causing Leber hereditary optic neuropathy. Am J Hum Genet 59:248-252 (1996).

50) Jackson CE, Cinelli FH, Wallace DC, Torroni A.  Potential of mitochondrial DNA for providing insights into the origin of the Etruscans. Etruscan Studies 3:165-170 (1996).

51) Torroni A, Huoponen K, Francalacci P, Petrozzi M, Morelli L, Scozzari R, Obinu D, Savontaus ML, Wallace DC.  Classification of European mtDNAs from an analysis of three European populations. Genetics 144:1835-1850 (1996).

52) Forster P, Harding R, Torroni A, Bandelt H-J. Origin and evolution of Native American mtDNA variation: a reappraisal. Am J Hum Genet 59:935-945 (1996).

53) Huoponen K, Torroni A, Wickman PR, Sellitto D, Gurley DS, Scozzari R, Wallace DC. Mitochondrial DNA and Y chromosome-specific polymorphisms in the Seminole tribe of Florida. Eur J Hum Genet 5:25-34 (1997).

54) Torroni A, Petrozzi M, D'Urbano L, Sellitto D, Zeviani M, Carrara F, Carducci C, Leuzzi V, Carelli V, Barboni P, De Negri A, Scozzari R. Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber Hereditary Optic Neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet 60:1107-1121 (1997).  

55) Scozzari R, Cruciani F, Santolamazza P, Sellitto D, Cole DEC, Rubin LA, Labuda D, Marini E, Succa V, Vona G, Torroni A. mtDNA and Y chromosome-specific polymorphisms in modern Ojibwa: implications about the origin of their gene pool. Am J Hum Genet 60: 241-244 (1997).

56) Lell JT,Brown MD, Schurr TG, Sukernik RI, Starikovskaya EB, Torroni A,  Moore LG, Troup GM, Wallace DC.  Y chromosome polymorphisms in Native American and Asian populations: Identification of founding Native American Y chromosome haplotypes. Hum Genet 100:536-543 (1997).

57) Scozzari R, Cruciani F, Malaspina P, Santolamazza P, Ciminelli B, Torroni A, Spedini G, Modiano D, Wallace DC, Olckers A, Kidd KK, Terrenato L, Akar N, Qamar R, Mansoor A, Mehdi SQ, Moral P, Meloni G, Vona G, Cole DEC, Cai W, Novelletto A. Differential structuring of human populations for homologous X and Y microsatellite loci. Am J Hum Genet 61:719-733 (1997).

58) Forster P, Harding R, Torroni A, Bandelt HJ. Further comments on the characterization of founder Amerindian mitochondrial haplotypes. Reply to Bianchi and Baillet. Am J Hum Genet 61:246-247 (1997).

59) Leuzzi V, Carducci C, Lanza M, Salvetti M, Ristori G, Di Giovanni S, Torroni A. LHON mutations in Italian patients affected by multiple sclerosis. Acta Neurol Scand 96:145-148 (1997).

60) Torroni A. Mitochondrial DNA variation in other populations. Etruscan Studies 4:121-136 (1997).

61) Estivill X, Govea N, Barcelo A, Perello E, Badenas C, Romero E, Moral L, Scozzari R, D'Urbano L, Zeviani M, Torroni A.  Familial progressive sensorineural deafness is mainly due to mitochondrial DNA 1555G mutation and is enhanced by treatment with aminoglycosides. Am J Hum Genet 62:27-35 (1998). 

62) Torroni A, D' Urbano L, Rengo C, Scozzari R, Sbracia M, Manna C, Cavazzini C, Sellitto D. Intracytoplasmic injection of spermatozoa does not appear to alter the mode of mtDNA inheritance. Hum Reprod 13:1747-1749 (1998).

63) Torroni A, Bandelt H-J, D'Urbano L, Lahermo P, Moral P, Sellitto D, Rengo C, Forster P, Savontaus M-L, Bonné-Tamir B, Scozzari R. MtDNA analysis reveals a major late Palaeolithic population expansion from southwestern to northeastern Europe. Am J Hum Genet 62:1137-1152 (1998).

64) Brown MD, Hosseini SH, Torroni A, Bandelt H-S, Allen JC, Schurr TG, Scozzari R, Cruciani F, Wallace DC. MtDNA haplogroup X: an ancient link between Europe/West Asia and North America? Am J Hum Genet 63:1852-1861 (1998).

65) Macaulay V, Richards M, Hickey E, Vega E, Cruciani F, Guida V, Scozzari R, Bonne-Tamir B, Sykes B, Torroni A.   The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs. Am J Hum Genet 64:232-249 (1999). 

66) Scozzari R, Cruciani F, Santolamazza P, Malaspina P, Torroni A, Arredi B, Spedini G, De Stefano G, Rickards O, Martinez-Labarga C, Modiano D, Moral P, Olckers A, Novelletto A. Combined use of biallelic and microsatellite Y chromosome polymorphisms to infer genetic affinities among African human populations. Am J Hum Genet 65:829-846 (1999). 

67) Torroni A, Cruciani F, Rengo C, Sellitto D, López-Bigas N,Rabionet R,Govea N, López de Munain A, Sarduy M, Romero L, Villamar M, del Castillo I,  Moreno F, Estivill X, Scozzari R. The A1555G mutation in the 12S rRNA gene of human mtDNA: Recurrent origins and founder events in families affected by sensorineural deafness. Am J Hum Genet 65:1349-1358 (1999).

68) Rocha H, Flores C, Campos Y, Arenas J, Vilarinho L, Santorelli FM, Torroni A. About the “Pathological” role of the mtDNA T3308C mutation ... Am J Hum Genet 65:1457-1459 (1999).

69) Torroni A, Richards M, Macaulay V, Forster P, Villems R, Nųrby S, Savontaus M-L, Huoponen K, Scozzari R, Bandelt H-J. mtDNA haplogroups and frequency patterns in Europe. Am J Hum Genet 66:1173-1177 (2000). 

70) Torroni A. Mitochondrial DNA and the origin of Native Americans. in America Past, America Present: Genes and Languages in the Americas and Beyond. Renfrew C. (ed) The McDonald Institute for Archaeological Research, Cambridge, Chapter 6, pp. 75-87 (2000).

71) Morelli L, Grosso MG, Vona G, Varesi L, Torroni A, Francalacci P. Frequency distribution of mitochondrial DNA haplogroups in Corsica and Sardinia. Hum Biol 72:585-595 (2000).

72) McMahon FJ, Chen Y-S, Patel S, Kokoszka J, Brown MD, Torroni A, DePaulo JR, Wallace DC. Mitochondrial DNA sequence diversity in bipolar affective disorder. Am J Psychiatry 157:1058-64 (2000).

73) Malaspina P, Cruciani F, Santolamazza P, Torroni A, Pangrazio A, Akar N, Bakalli V, Brdicka R, Jaruzelska J, Kozlov A, Malyarchuck B, Mehdi SQ, Michalodimitrakis E, Varesi L, Memmi MM, Vona G, Villems R, Parik J, Romano V, Stefan M, Stenico M, Terrenato L, Novelletto A, Scozzari R. Patterns of male-specific inter-population divergence in Europe, West Asia and North Africa. Ann Hum Genet 64:395-412 (2000).

74) Malaspina P, Cruciani F, Torroni A, Terrenato L, Novelletto A, Scozzari R. Human Y-chromosomal networks and patterns of gene flow in Europe, West Asia and North Africa. In: Archaeogenetics: DNA and the population prehistory of Europe. Renfrew C. and Boyle K. (eds) The McDonald Institute for Archaeological Research, Cambridge, chapter 16, pp. 163-165 (2000).

75) Richards M, Macaulay V, Hickey E, Vega E, Sykes B, Guida V, Rengo C, Sellitto D, Cruciani F, Kivisild T, Villems R,Thomas M, Rychkov S, Rychkov O, Rychkov Y, Gölge M, Dimitrov D, Hill E, Bradley D, Romano V, Calģ F, Vona G, Demaine A, Papiha S, Triantaphyllidis C, Stefanescu G, Hatina J, Belledi M, Di Rienzo A, Novelletto A, Oppenheim A, Nųrby S, Al-Zaheri N, Santachiara-Benerecetti A.S, Scozzari R, Torroni A, Bandelt H-J. Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet 67:1251-1276 (2000).

76) Torroni A.  mtDNA haplogroups in human populations and disease studies. J Cult Heritage 1: (supplement 2) 33-34 (2000).

77) McMahon FJ, Chen Y-S, Torroni A. Dr. McMahon and colleagues reply to Mitochondrial DNA polymorphisms and bipolar disorder. Am J Psychiatry 158:1170 (2001).

78) Scozzari R, Cruciani F, Pangrazio A, Santolamazza P, Vona G, Moral P, Latini V, Varesi L, Memmi MM, Romano V, De Leo G, Gennarelli M, Jaruzelska J, Villems R, Parik J, Macaulay V, Torroni A. Human Y-chromosome variation in the western Mediterranean area:  Implications for the peopling of the region. Hum Immunol 62:871-884 (2001).

79) Bandelt H-J, Alves-Silva J, Guimaraes PEM, Santos MS, Brehm A, Pereira L, Coppa A, Larruga JM, Rengo C, Scozzari R, Torroni A, Prata MJ, Amorim A, Prado VF, Pena SDJ. Phylogeography of the human mitochondrial haplogroup L3e: a snapshot of African prehistory and Atlantic slave trade. Ann Hum Genet 65:549-563 (2001).

80) Pereira L, Macaulay V, Torroni A, Scozzari R, Prata MJ, Amorim A. Prehistoric and historic traces in the mtDNA of Mozambique: insights into the Bantu expansions and the slave trade. Ann Hum Genet 65:439-458 (2001).

81) Forster P, Torroni A, Renfrew C, Röhl A. Phylogenetic star contraction applied to Asian and Papuan mtDNA evolution. Mol Biol Evol 18:1864-1881 (2001).

82) Torroni A, Bandelt H-J, Macaulay V, Richards M, Cruciani F, Rengo C, Martinez-Cabrera V, Villems R, Kivisild T, Metspalu E, Parik J, Tolk H-V, Tambets K, Forster P, Karger B, Francalacci P, Rudan P, Janicijevic B, Rickards O, Savontaus M-L, Huoponen K, Laitinen V, Koivumäki S, Sykes B, Hickey E, Novelletto A, Moral P, Sellitto D, Coppa A, Al-Zaheri N, Santachiara-Benerecetti AS, Semino O, Scozzari R. A signal, from human mtDNA, of postglacial recolonization in Europe. Am J Hum Genet 69:844-852 (2001).

83) Torroni A, Rengo C, Guida V, Cruciani F, Sellitto D, Coppa A, Luna Calderon F, Simionati B, Valle G, Richards M, Macaulay V, Scozzari R. Do the four clades of the mtDNA haplogroup L2 evolve at different rates? Am J Hum Genet 69:1348-1356 (2001).84) Cruciani F, Santolamazza P, Shen P, Macaulay V, Moral P, Olckers A, Modiano D, Holmes S, Destro-Bisol G, Coia V, Wallace DC, Oefner PJ, Torroni A, Cavalli-Sforza LL, Scozzari R, Underhill PA. A back migration from Asia to sub-Saharan Africa is supported by high-resolution analysis of human Y-chromosome haplotypes. Am J Hum Genet 70:1197-1214 (2002).

85) Thomas MG, Weale ME, Jones AL, Richards M, Smith A, Redhead N, Torroni A, Scozzari R, Gratrix F, Tarekegn A, Wilson JF, Capelli C, Bradman N, Goldstein DB. Founding mothers of Jewish communities: geographically separated Jewish groups were independently founded by very few female ancestors. Am J Hum Genet 70:1411-1420 (2002).

86) Valentino ML, Avoni P, Barboni P, Pallotti F, Rengo C, Torroni A, Bellan M, Baruzzi A, Carelli V. Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber’s hereditary optic neuropathy. Ann Neurol 51:774-778 (2002).

87) Carelli V, Vergani L, Bernazzi B, Zampieron C, Bucchi L, Valentino ML, Rengo C, Torroni A, Martinuzzi A. Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber’s hereditary optic neuropathy. Biochem Biophys Acta (Molecular Basis of Disease) 1588:7-14 (2002).

88) Richards M, Macaulay V, Torroni A, Bandelt H-J. In search of geographical patterns in European mtDNA. Am J Hum Genet 71:1168-1174 (2002).

89) Torroni A, Campos Y, Rengo C, Sellitto D,  Achilli A, Magri C, Semino O, Garcķa A, Jara P,  Arenas J, Scozzari R. MtDNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation. Am J Hum Genet 72:1005-1012 (2003).

90) Richards M, Rengo C, Cruciani F, Gratrix F, Wilson JF, Scozzari R, Macaulay V, Torroni A. Extensive female-mediated gene flow from sub-Saharan Africa into Near Eastern Arab populations. Am J Hum Genet 72:1058-1064 (2003).

91) Al-Zahery N, Semino O, Benuzzi G, Magri C, Passarino G, Torroni A, Santachiara-Benerecetti AS. Y-chromosome and mtDNA polymorphisms in Iraq, a crossroad of the early human dispersal and of post-Neolithic migrations. Mol Phylogenet Evol 28:458-472 (2003).

92) Bandelt H-J, Herrnstadt C, Yao Y-G, Kong Q-P, Kivisild T, Rengo C, Scozzari R, Richards M,Villems R, Macaulay V, Howell N, Torroni A, Zhang Y-P. Identification of Native American founder mtDNAs through the analysis of complete mtDNA sequences: some caveats. Ann Hum Genet 67:512-524 (2003).

93) Cruciani F, Bernardini L, Santolamazza P, Modiano D, Torroni A, Scozzari R. 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 recombination. Genomics 82:20-33 (2003).

94) Reidla M, Kivisild T, Metspalu E, Kaldma K, Tambets K, Tolk H-V, Parik J, Loogväli E-L, Derenko M, Malyarchuk B, Bermisheva M, Zhadanov S, Pennarun E, Gubina M, Golubenko M, Damba L, Fedorova S, Gusar V, Grechanina E, Mikerezi I, Moisan J-P, Chaventré A, Khusnutdinova E, Osipova L, Stepanov V, Voevoda M, Achilli A, Rengo C, Rickards O, De Stefano GF, Papiha S, Beckman L, Janicijevic B, Rudan P, Anagnou N, Michalodimitrakis E, Koziel S, Usanga E, Geberhiwot T, Herrnstadt C, Howell N, Torroni A, Villems R. Origin and diffusion of mtDNA haplogroup X. Am J Hum Genet 73:1178-1190 (2003).

95) Salas A, Richards M, Lareu MV, Scozzari R, Coppa A, Torroni A, Macaulay V, Carracedo A. The African diaspora: mitochondrial DNA and the Atlantic slave trade. Am J Hum Genet 74:454-465 (2004).

96) Quintana-Murci L, Chaix R, Wells SR, Behar DM, Sayar H, Ottolenghi C, Scozzari R, Rengo C, Al-Zahery N, Semino O, Santachiara-Benerecetti AS, Coppa A, Ayub Q, Mohyuddin A, Tyler-Smith C, Mehdi SQ, Torroni A, McElreavey K. Where West meets East: The complex mtDNA landscape of the Southwest and Central Asian corridor. Am J Hum Genet 74:827-845 (2004).

97) Cruciani F, La Fratta R, Santolamazza P, Sellitto D, Pascone R, Moral P, Watson E, Guida V, Colomb EB, Zaharova B, Lavinha J, Vona G, Aman R, Cali F, Akar N, Richards M, Torroni A, Novelletto A, Scozzari R. Phylogeographic analysis of haplogroup E3b (E-M215) Y chromosomes reveals multiple migratory events within and out of Africa. Am J Hum Genet 74:1014-1022 (2004).

98) Semino O, Magri C, Benuzzi G, Lin AA, Al-Zahery N, Battaglia V, Maccioni L, Triantaphyllidis C, Shen P, Oefner PJ, Zhivotovsky LA, King R, Torroni A, Cavalli-Sforza LL, Underhill PA, Santachiara-Benerecetti AS. Origin, diffusion, and differentiation of Y-chromosome haplogroups E and J: inferences on the neolithization of Europe and later migratory events in the Mediterranean area.  Am J Hum Genet 74:1023-1034 (2004). 

99) Rootsi S, Magri C, Kivisild T, Benuzzi G, Help H, Bermisheva M, Kutuev I, Barac L, Pericic M, Balanovsky O, Pshenichnov A, Dion D, Grobei M, Zhivotovsky LA, Battaglia V, Achilli A, Al-Zahery N, Parik J, King R, Cinnioglu C, Khusnutdinova E, Rudan P, Balanovska E, Scheffrahn W, Simonescu M, Brehm A, Goncalves R, Rosa A, Moisan J-P, Ferak V, Füredi S, Oefner PJ, Shen P, Beckman L, Mikerezi I, Terzic R, Primorac D, Cambon-Thomsen A, Krumina A, Torroni A, Underhill PA, Santachiara-Benerecetti AS, Villems R, Semino O. Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in Europe. Am J Hum Genet 75:128-137 (2004).

100) Salas A, Torroni A, Richards M, Quintana-Murci L, Hill C, Macaulay V, Carracedo Į. The phylogeography of mitochondrial DNA haplogroup L3g in Africa and the Atlantic slave trade. Reply to Bortolini et al. Am J Hum Genet 75:524-526 (2004).

101) Valentino ML, Barboni P, Ghelli A, Bucchi L, Rengo C, Achilli A, Torroni A, Lugaresi A, Lodi R, Barbiroli B, Dotti MT, Federico A, Baruzzi A, Carelli V. The ND1 gene of complex I is a mutational hot spot for Leber hereditary optic neuropathy. Ann Neurol 56:631-641 (2004).

102) Achilli A, Rengo C, Magri C, Battaglia V, Olivieri A, Scozzari R, Cruciani F, Zeviani M, Briem E, Carelli V, Moral P, Dugoujon J-M, Roostalu U, Loogväli E-L, Kivisild T, Bandelt H-J, Richards M, Villems R, Santachiara-Benerecetti AS, Semino O, Torroni A. The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am J Hum Genet 75:910-918 (2004).

103) Metspalu M, Kivisild T, Metspalu E, Parik J, Hudjashov G, Kaldma K, Serk P, Karmin M, Behar DM, Gilbert MTP, Endicott P, Mastana S, Papiha SS, Skorecki K, Torroni A, Villems R. Most of the extant mtDNA boundaries in South and Southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans. BMC Genetics 5:26 (2004).

104) Starikovskaya EB, Sukernik RI, Derbeneva OA, Volodko NV, Ruiz-Pesini E, Torroni A, Brown MD, Lott MT, Hosseini SH, Huoponen K, Wallace DC. Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origin of Native American haplogroups. Ann Hum Genet 69:67-89 (2005).

105) Ghezzi D, Marelli C, Achilli A, Goldwurm S, Pezzoli G, Barone P, Pellecchia MT, Stanzione P, Brusa L, Bentivoglio AR, Bonuccelli U, Petrozzi L, Abbruzzese G, Marchese R, Cortelli P, Grimaldi D, Martinelli P, Ferrarese C, Garavaglia B, Sangiorgi S, Carelli V, Torroni A, Albanese A, Zeviani M. Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson’s Disease in Italians. Eur J Hum Genet 13:748-752 (2005).

106) Achilli A, Rengo C, Battaglia V, Pala M, Olivieri A, Fornarino S, Magri C, Scozzari R, Babudri N, Santachiara-Benerecetti AS, Bandelt H-J, Semino O, Torroni A. Saami and Berbers – an unexpected mitochondrial DNA link. Am J Hum Genet 76:883-886 (2005).

107) Marjanovic D, Fornarino S, Montagna S, Primorac D, Hadziselimovic R, Vidovic S, Pojskic N, Battaglia V, Achilli A, Katja D, Andjelinovic S, Torroni A, Santachiara-Benerecetti AS, Semino O. The peopling of modern Bosnia-Herzegovina: Y-chromosome haplogroups in the three main ethnic groups. Ann Hum Genet 69:757-763 (2005).

108) Macaulay V, Hill C, Achilli A, Rengo C, Clarke D, Meehan W, Blackburn J, Semino O, Scozzari R, Cruciani F, Taha A, Shaari NK, Raja JM, Ismail P, Zainuddin Z, Goodwin W, Bulbeck D, Bandelt H-J, Oppenheimer S, Torroni A, Richards M. Single, rapid coastal settlement of Asia revealed by analysis of complete human mitochondrial genomes. Science 308:1034-1036 (2005).

109) Bandelt H-J, Achilli A, Kong Q-P, Salas A, Lutz-Bonengel S, Sun C, Zhang Y-P, Torroni A, YaoY-G. Low “penetrance” of phylogenetic knowledge in mitochondrial disease studies. Biochem Biophys Res Commun 333:122-130 (2005).

110) Macaulay V, Hill C, Achilli A, Rengo C, Clarke D, Meehan W, Blackburn J, Semino O, Scozzari R, Cruciani F, Taha A, Shaari NK, Raja JM, Ismail P, Zainuddin Z, Goodwin W, Bulbeck D, Bandelt H-J, Oppenheimer S, Torroni A, Richards M. Tracing modern human origins. Reply to Harpending H. & Eswaran V. Science 309:1995-1997 (2005).

111) Metspalu M, Kivisild T, Metspalu E, Parik J, Hudjashov G, Kaldma K, Serk P, Karmin M, Behar DM, Gilbert MT, Endicott P, Mastana S, Papiha SS, Skorecki K, Torroni A, Villems R. Most of the extant mtDNA boundaries in South and Southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans. BMC Genet 6:41 (2005).

112) Behar DM, Metspalu E, Kivisild T, Achilli A, Hadid Y, Tzur S, Pereira L, Amorim A, Quintana-Murci L, Majamaa K, Herrnstadt C, Howell N, Balanovsky O, Kutuev I, Pshenichnov A, Gurwitz D, Bonne-Tamir B, Torroni A, Villems R, Skorecki K. The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event. Am J Hum Genet 78:487-497 (2006).

113) Kivisild T, Shen P, Wall DP, Do B, Sung R, Davis K, Passarino G, Underhill PA, Scharfe C, Torroni A, Scozzari R, Modiano D, Coppa A, de Knijff P, Feldman M, Cavalli-Sforza LL, Oefner PJ. The role of selection in the evolution of human mitochondrial genomes. Genetics 172:373-387 (2006).

114) Carelli V, Achilli A, Valentino ML, 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.Jr, Sadun AA, Torroni A. Haplogroup effects and recombination of mtDNA: novel clues from the analysis of LHON pedigrees. Am J Hum Genet 78:564-574 (2006).

115) Valentino ML, Barboni P, Rengo C, Achilli A, Torroni A, Lodi R, Tonon C, Barbiroli B, Fortuna F, Montagna P, Baruzzi A, Carelli V. The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype. J Med Genet 43:e38 (2006).

116) Kong Q-P, Bandelt H-J, Sun C, Yao Y-G, Salas A, Achilli A, Wang C-Y, Zhong L, Zhu C-L, Wu S-F. Torroni A, Zhang Y-P. Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations. Hum Mol Genet 15:2076-2086 (2006).

117) Torroni A, Achilli A, Macaulay V, Richards M, Bandelt H-J. Harvesting the fruit of the human mtDNA tree. Trends Genet 22:339-345 (2006).

118) Cruciani F, La Fratta R, Torroni A, Underhill PA, Scozzari R. Molecular dissection of the Y chromosome haplogroup E-M78: a posteriori evaluation of a microsatellite-network-based approach through six new biallelic markers. Hum Mutat 27:831-832 (2006).

119) Accetturo M, Santamaria M, Lascaro D, Rubino F, Achilli A, Torroni A, Tommaseo-Ponzetta M, Attimonelli M. Human mtDNA site specific variability values can act as haplogroup markers. Hum Mutat 27:965-974 (2006).

120) Olivieri A, Achilli A, Pala M, Battaglia V, Fornarino S, Al-Zahery N, Scozzari  R, Cruciani F, Behar DM, Dugoujon J-M, Coudray C, Santachiara-Benerecetti AS, Semino O, Bandelt H-J,  Torroni A. The mtDNA legacy of the Levantine Early Upper Palaeolithic in Africa. Science 314:1767-1770 (2006).

121) Annesi G, Aguglia U, Tarantino P, Annesi F, De Marco EV, Civitelli D, Torroni A, Quattrone A. SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases. Clin Genet 71:288-289 (2007).

122) 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 AS, Cavalli-Sforza LL, Semino O, Villems R, Bandelt H-J, Piazza A, Torroni A. Mitochondrial DNA variation of modern Tuscans supports the Near Eastern origin of Etruscans. Am J Hum Genet 80:759-768 (2007).

123) Pellecchia M, Negrini R, Colli L, Patrini M, Milanesi E, Achilli A, Bertorelle G, Piazza A, Torroni A, Ajmone-Marsan P. The mystery of Etruscan origin: novel clues from Bos taurus mitochondrial DNA. Proc Biol Sci 274:1175-1179 (2007).

124) Bandelt H-J, Olivieri A, Bravi C, Yao Y-G, Torroni A, Salas A. “Distorted” mitochondrial DNA sequences in schizophrenic patients. Eur J Hum Genet 15:400-402 (2007).

125) Olivieri A, Achilli A, Pala M, Battaglia V, Fornarino S, Al-Zahery N, Scozzari  R, Cruciani F, Behar DM, Dugoujon J-M, Coudray C, Santachiara-Benerecetti AS, Semino O, Bandelt H-J, Torroni A. Timing of a back-migration into Africa. Reply to Forster P. & Romano V. Science 316:51-53 (2007).

126) Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, Pyle A, Elson J, Howell N, La Morgia C, Valentino ML, Huoponen K, Savontaus M-L, Nikoskelainen E, Sadun AA, Salomao SR, Belfort R Jr, Griffiths P, Man PYW, de Coo RFM, Horvath R, Zeviani M, Smeets HJT, Torroni A, Chinnery PF. Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA–haplogroup background. Am J Hum Genet 81:228-233 (2007).

127) Hudson G, Mowbray C, Elson J, Jacob A, Boggild M, Torroni A, Chinnery PF. Does mitochondrial DNA predispose to neuromyelitis optica (Devic's disease)? Brain 131:e93 (2008).

128) Achilli A, Olivieri A, Pellecchia M, Uboldi C, Colli L, Al-Zahery N, Accetturo M, Pala M, Hooshiar Kashani B, Perego UA, Battaglia V, Fornarino S, Kalamati J, Houshmand M, Negrini R, Semino O, Richards M, Macaulay V, Ferretti L, Bandelt H-J, Ajmone-Marsan P, Torroni A. Mitochondrial genomes of extinct aurochs survive in domestic cattle. Curr Biol 18:R157-158 (2008). 

129) 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, Carelli V. Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus. Neurology 70:762-770 (2008).

130) Achilli A, Perego UA, Bravi CM, Coble MD, Kong Q-P, Woodward SR, Salas A, Torroni A, Bandelt H-J. The phylogeny of the four pan-American mtDNA haplogroups: implications for evolutionary and disease studies. PLoS One 3:e1764 (2008).

 

131) Cruciani F, Trombetta B, Labuda D, Modiano D, Torroni A, Costa R, Scozzari R. Genetic diversity patterns at the human clock gene period 2 are suggestive of population-specific positive selection. Eur J Hum Genet 16: 1526-1534 (2008).

132) Chaubey G, Karmin M, Metspalu E, Metspalu M, Selvi-Rani D, Singh VK, Parik J, Solnik A, Naidu BP, Kumar A, Adarsh N, Mallick CB, Trivedi B, Prakash S, Reddy R, Shukla P, Bhagat S, Verma S, Vasnik S, Khan I, Barwa A, Sahoo D, Sharma A, Rashid M, Chandra V, Reddy AG, Torroni A, Foley RA, Thangaraj K, Singh L, Kivisild T, Villems R. Phylogeography of mtDNA haplogroup R7 in the Indian peninsula. BMC Evol Biol 8:227 (2008).

133) Pello R, Martķn MA, Carelli V, Nijtmans LG, Achilli A, Pala M, Torroni A, Gómez-Durįn A, Ruiz-Pesini E, Martinuzzi A, Smeitink J, Arenas J, Ugalde C. Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease. Hum Mol Genet 17:4001-4011 (2008).

134) Coudray C, Olivieri A, Achilli A, Pala M, Melhaoui M, Cherkaoui M, El-Chennawi F, Kossmann M, Torroni A, Dugoujon J-M. The complex and diversified mitochondrial gene pool of Berber populations. Ann Hum Genet 73:196-214 (2009).

135) Battaglia V, Fornarino S, Al-Zahery N, Olivieri A, Pala M, Myres NM, King RJ, Rootsi S, Marjanovic D, Primorac D, Hadziselimovic R, Vidovic S, Drobnic K, Durmishi N, Torroni A, Santachiara-Benerecetti AS, Underhill PA, Semino O. Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe. Eur J Hum Genet 17:820-830 (2009).

136) Perego UA, Achilli A, Angerhofer N, Accetturo M, Pala M, Olivieri A, Hooshiar Kashani B, Ritchie KH, Scozzari R, Kong Q-P, Myres NM, Salas A, Semino O, Bandelt H-J, Woodward SR, Torroni A. Distinctive Paleo-Indian migration routes from Beringia marked by two rare mtDNA haplogroups. Curr Biol 19:1-8 (2009).

137) Achilli A, Bonfiglio S, Olivieri A, Malusą A, Pala M, Hooshiar Kashani B, Perego UA, Ajmone-Marsan P, Liotta L, Semino O, Bandelt HJ, Ferretti L, Torroni A. The multifaceted origin of taurine cattle reflected by the mitochondrial genome. PLoS One 4:e5753 (2009).

138) Pala M, Achilli A, Olivieri A, Hooshiar Kashani B, Perego UA, 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 SR, Francalacci P, Parson W, Salas A, Behar DM, Villems R, Semino O,1 Bandelt HJ, Torroni A. Mitochondrial haplogroup U5b3: a distant echo of the Epipaleolithic in Italy and the legacy of the early Sardinians. Am J Hum Genet 84:814-821 (2009). 

139) Fornarino S, Pala M, Battaglia V, Maranta R, Achilli A, Modiano G, Torroni A, Semino O, Santachiara-Benerecetti AS. Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): a reservoir of genetic variation. BMC Evol Biol 9:154 (2009). 

140) Ghelli A, Porcelli AM, Zanna C, Vidoni S, Mattioli S, Barbieri A, Iommarini L, Pala M, Achilli A, Torroni A, Rugolo M, Carelli V. The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber’s hereditary optic neuropathy cells to 2,5-hexanedione toxicity. PLoS One 4: e7922 (2009).

141) Dugoujon J-M, Coudray C, Torroni A, Cruciani F, Scozzari R, Moral P, Louali N, Kossmann M. The Berber and the Berbers – genetic and linguistic diversities in "Becoming eloquent: advances in the emergence of language, human cognition and modern cultures", Edited by F. d'Errico and J.M. Hombert. John Benjamins Publishing Co., Amsterdam, The Netherlands (2009).

142) Soares P, Achilli A, Semino O, Davies W, Macaulay V, Bandelt HJ, Torroni A, Richards MB. The archaeogenetics of Europe. Curr Biol 20: R174-R183 (2010).

143) Perego UA, Angerhofer N, Pala M, Olivieri A, Lancioni H, Hooshiar Kashani B, Carossa V, Ekins JE, Gómez-Carballa A, Huber G, Zimmermann B, Corach D, Babudri N, Panara F, Myres NM, Parson W, Semino O, Salas A, Woodward SR, Achilli A, Torroni A. The initial peopling of the Americas: a growing number of founding mitochondrial genomes from Beringia. Genome Res 20:1174-1179 (2010).

144) Santoro A, Balbi V, Balducci E, Pirazzini C, Rosini F, Tavano F, Achilli A, Siviero P, Minicuci N, Bellavista E, Mishto M, Salvioli S, Marchegiani F, Cardelli M, Olivieri F, Nacmias B, Chiamenti AM, Benussi L, Ghidoni R, Rose G, Gabelli C, Binetti G, Sorbi S, Crepaldi G, Passarino G, Torroni A, Franceschi C. Evidence for sub-haplogroup H5 of mitochondrial DNA as a risk factor for late onset Alzheimer's disease. PLoS One 5: e12037 (2010).

145) Ottoni C, Primativo G, Hooshiar Kashani B, Achilli A, Martķnez-Labarga C, Biondi G, Torroni A, Rickards O. Mitochondrial haplogroup H1 in North Africa: an early Holocene arrival from Iberia. PLoS One 5:e13378 (2010).

146) Bonfiglio S, Achilli A, Olivieri A, Negrini R, Colli L, Liotta L, Ajmone-Marsan P, Torroni A, Ferretti L. The enigmatic origin of bovine mtDNA haplogroup R: sporadic interbreeding or an independent event of Bos primigenius domestication in Italy? PLoS One 5:e15760 (2010).

147) Sanna D, Pala M, Cossu P, Dedola GL, Melis S, Fresu G, Morelli L, Obinu D, Tonolo G, Secchi G, Triunfo R, Lorenz JG, Scheinfeldt L, Torroni A, Robledo R, Francalacci P. Mendelian breeding units versus standard sampling strategies: Mitochondrial DNA variation in southwestern Sardinia. Genet Mol Biol 34:187-194 (2011).

148) Achilli A, Olivieri A, Pala M, Hooshiar Kashani B, Carossa V, Perego UA, Gandini F, Santoro A, Battaglia V, Grugni V, Lancioni H, Sirolla C, Bonfigli AR, Cormio A, Boemi M, Testa I, Semino O, Ceriello A, Spazzafumo L, Gadaleta MN, Marra M, Testa R, Franceschi C, Torroni A. Mitochondrial DNA backgrounds might modulate diabetes complications rather than T2DM as a whole. PLoS One 6:e21029 (2011).

149) Al-Zahery N, Pala M, Battaglia V, Grugni V, Hamod MA, Hooshiar Kashani B, Olivieri A, Torroni A, Santachiara-Benerecetti AS, Semino O. In search of the genetic footprints of Sumerians: a survey of Y-chromosome and mtDNA variation in the Marsh Arabs of Iraq. BMC Evol Biol 11:288 (2011).

150) Hooshiar Kashani B, Perego UA, Olivieri A, Angerhofer N, Gandini F, Carossa V, Lancioni H, Semino O, Woodward SR, Achilli A, Torroni A. Mitochondrial haplogroup C4c: a rare lineage entering America through the ice-free corridor? Am J Phys Anthropol 147:35-39 (2012).

151) Karachanak S, Carossa V, Nesheva D, Olivieri A, Pala M, Hooshiar Kashani B, Grugni V, Battaglia V, Achilli A, Yordanov Y, Galabov AS, Semino O, Toncheva D, Torroni A. Bulgarians vs the other European populations: a mitochondrial DNA perspective. Int J Leg Med 126:497-503 (2012). 

152) Achilli A, Olivieri A, Soares P, Lancioni H, Hooshiar Kashani B, Perego UA, Nergadze SG, Carossa V, Santagostino M, Capomaccio S, Felicetti M, Al-Achkar W, Penedo MC, Verini-Supplizi A, Houshmand M, Woodward SR, Semino O, Silvestrelli M, Giulotto E, L. Pereira, Bandelt H-J, Torroni A. Mitochondrial genomes from modern horses reveal the major haplogroups that underwent domestication. Proc Natl Acad Sci USA 109:2449-2454 (2012).

153) Bodner M, Perego UA, Huber G, Fendt L, Röck AW, Zimmermann B, Olivieri A, Gómez-Carballa A, Lancioni H, Angerhofer N, Bobillo MC, Corach D, Woodward SR, Salas A, Achilli A, Torroni A, Bandelt JH, Parson W. Rapid coastal spread of First Americans: novel insights from South America’s Southern Cone mitochondrial genomes. Genome Res 22: 811-820 (2012).

154) Gómez-Carballa A, Olivieri A, Behar DM, Achilli A, Torroni A, Salas A. Genetic continuity in the Franco-Cantabrian region: new clues from autochthonous mitogenomes.  PLoS One 7:e32851 (2012).

155) Achilli A, Iommarini L, Olivieri A, Pala M, Hooshiar Kashani B, Reynier P, La Morgia C, Valentino ML, Liguori R, Pizza F, Barboni P, Sadun F, De Negri AM, Zeviani M, Dollfus H, Moulignier A, Ducos G, Orssaud C, Bonneau D, Procaccio P, Leo-Kottler B, Fauser S, Wissinger B, Amati-Bonneau P, Torroni A, Carelli V. Rare primary mtDNA mutations and synergistic variants in Leber’s Hereditary Optic Neuropathy. PLoS One (in press).

156) Cerezo M, Achilli A, Olivieri A, Perego UA, Gómez-Carballa A, Brisighelli F, Lancioni H, Woodward SR, López-Soto M, Carracedo A, Capelli C, Torroni A, Salas A. Reconstructing ancient mitochondrial DNA links between Africa and Europe. Genome Res 22: 821-826 (2012).

157) Behar DM, van Oven M, Rosset S, Metspalu M, Loogväli E-L, Silva NM, Kivisild T, Torroni A, Villems R. A "Copernican" reassessment of the human mitochondrial DNA tree from its root. Am J Hum Genet 90: 675-684 (2012).

158) Pala M, Olivieri A, Achilli A, Accetturo M, Metspalu E, Reidla M, Tamm E, Karmin M, Reisberg T, Hooshiar Kashani B, Perego UA, Carossa V, Gandini F, Pereira JB, Soares P, Angerhofer N, Rychkov S, Al-Zahery N, Carelli V, Sanati MH, Houshmand M, Hatina J, Macaulay V, Pereira L, Woodward SR, Davies W, Gamble C, Baird D, Semino O, Villems R, Torroni A, Richards MB. Mitochondrial DNA signals of Late Glacial recolonisation of Europe from Near Eastern refugia. Am J Hum Genet 90:915-924 (2012).

159) Colonna V, Pistis G, Bomba L, Mona S, Matullo G, Boano R, Sala C, Vigano F, Torroni A, Achilli A, Hooshiar Kashani B, Malerba G, Soranzo N, Toniolo D. Small effective population size and genetic homogeneity in the Val Borbera isolate.  Eur J Hum Genet (2012, in press).

160) Bonfiglio S, Ginja C, De Gaetano A, Alessandro Achilli A, Olivieri A, Colli L, Tesfaye K, Agha SH, Gama LT, Cattonaro F, Penedo MCT, Ajmone-Marsan P, Torroni A, Ferretti L. Origin and spread of Bos taurus: new clues from mitochondrial genomes belonging to haplogroup T1. PLoS One 7:e38601 (2012).

161) Grugni V, Battaglia V, Hooshiar Kashani B, Parolo S, Al-Zahery N, Achilli A, Olivieri A, Gandini F, Houshmand M, Hossein Sanati M, Torroni A, Semino O. Ancient migratory events in the Middle East: new clues from the Y-chromosome variation of modern Iranians. PLoS One (2012, in press).

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