Laboratory of Human Genetics

Antonio Torroni CV

Complete mtDNA Sequences Versione Italiana

Full Professor of Genetics

Head of the Ph.D. Program in Genetic and Biomolecular Sciences, Pavia University

Collaborators:

Ornella Semino, A. Silvana Santachiara - Benerecetti, Alessandro Achilli, Vincenza Battaglia, Anna Olivieri

RESEARCH PROJECTS

1) Human mtDNA and Y chromosome as markers of ethnical/geographical origin and ancient interactions between populations

At fertilization, half of the DNA of the mother and half of that of the father are brought together in the zygote. The sperm contribution differs from that of the egg in two complementary ways: (a) it does not contribute viable mitochondria, which harbor their own circular genomes (~16570 base pairs), thus the mitochondrial DNA (mtDNA) is maternally-transmitted; (b) only the sperm contributes a Y chromosome in half of the fertilizations (giving rise to male embryos), thus the Y chromosome is paternally-inherited. The mtDNA and the non-recombining portion of the Y chromosome (NRY) do not recombine at meiosis, and this means that, in the case of humans, the first is a molecular record of the "history" of women who transmitted it through the generations, while the latter recapitulates the "history" of men. Thus, these two uniparentally-transmitted systems provide complementary genetic information, which can be compared to each other, and to that provided by the autosomes and the X chromosome.
Because of the lack of recombination, the sequence differentiation of the mtDNA and the NRY have been generated only by the sequential accumulation of new mutations along radiating maternal and paternal lineages, respectively. In the course of time, this process of molecular divergence has given rise to the monophyletic units that are now called haplogroups. Because this process of molecular differentiation occurred mainly during and after the process of human colonization and diffusion into the different regions and continents, haplogroups and sub-haplogroups tend to be restricted to specific geographic areas and population groups. Therefore, haplogroup (and sub-haplogroup) identification, quantitation of their internal variation, and analyses of their geographic/ethnic distribution can provide major insights about human origin and the genetic and demographic processes that have given rise to modern human populations.

2) "Natural" sequence variation of mtDNA and its role in disease/phenotype expression: complete sequence analysis of mtDNAs representative of all human haplogroups

Mitochondrial ATP production via oxidative phosphorylation is essential for normal function and maintenance of human organ systems, and numerous mutations of mitochondrial DNA (mtDNA) are known to cause serious maternally transmitted diseases. However, it is now a rather general opinion in mtDNA disease studies that these mutations were probably the easiest to detect, and represent the emerging tip of the bulk constituted by mutations which are "natural", and possibly also rather common, but not necessary "neutral". Indeed, a possible role of mtDNA variation has been recently postulated for many complex phenotypes, including aging and fertility, in which a clear-cut pattern of inheritance is lacking, and it has been suggested that "natural" mtDNA genotypes (which are very divergent from each other because of the high evolution rate of mtDNA) could modulate the expression not only of pathological mtDNA mutations, but also of nuclear genotypes. One of the obstacles in studying the associations between pathologies and mtDNA variation is the lack of complete sequence data for the candidate haplogroups. Therefore mtDNA mutations that either alone or in specific combinations could be the cause of the association itself cannot be identified and studied. To address this issue, we have begun a large project aimed to the complete sequencing of hundreds of mtDNAs belonging to all haplogroups and sub-haplogroups and that are representative of the whole range of the "natural" mtDNA variation in our species.

PUBLICATIONS

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

2) Ascenzi P, Aducci P, Torroni A, Amiconi G, Ballio A, Menegatti E, Guarnieri M (1987) 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.

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

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

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

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

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

8) Torroni A, Semino O, Rose G, De Benedictis G, Brancati C, Santachiara-Benerecetti AS (1990) Mitochondrial DNA polymorphisms in the Albanian population of Calabria (Southern Italy). Int J Anthropol 5(2):97-104.

9) Torroni A, Semino O, Scozzari R, Sirugo G, Spedini G, Casanova M, Fellous M, Santachiara-Benerecetti AS (1990) 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.

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

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

12) Semino O, Torroni A, Ferretti L, Santachiara-Benerecetti AS (1991) Two additional MspI RFLPs revealed by MC.34 (D2S63). Nucl Acids Res 19: (22):6345.

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

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

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

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

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

18) Brown MD, Yang C-C, Trounce I, Torroni A, Lott MT, Wallace DC (1992) 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.

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

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

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

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 (1992) Mitochondrial oxidative phosphorylation defects in Parkinson's disease. Ann Neurol 32:113-114.

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 (1993) Mitochondrial DNA variants observed in Alzheimer and Parkinson disease patients. Genomics 17:171-184.

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

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

27) Haraguchi Y, Chung AB, Torroni A, Stepien G, Shoffner JM, Wasmuth JJ, Costigan DA, Polak M, Altherr R, Winokur ST, Wallace DC (1993) 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.

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

29) Moore LG, Zamudio S, Curran-Everett L, Torroni A, Jorde LB, Shohet RV, Thupten, Drolkar T (1993) 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.

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

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

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

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

34) Torroni A, Miller JA, Moore LG, Zamudio S, Zhuang J, Droma T, Wallace DC (1994) 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.

35) Torroni A, Neel JV, Barrantes R, Schurr TG, Wallace DC (1994) 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.

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

37) Wallace DC, Lott MT, Torroni A, Brown MD, Shoffner JM (1994) 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.

38) Torroni A, Lott MT, Cabell MF, Chen Y-S, Lavergne L, Wallace DC (1994) 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.

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

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

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

42) Wallace DC, Lott MT, Brown MD, Huoponen K, Torroni A (1995) 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. 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 (1995) Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations. Hum Mutation 6:311-325.

44) Torroni A, Brown MD, Lott MT, Newman NJ, Wallace DC and the Cuban National Operative Group on Epidemic Neuropathy (1995) 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 Mutation 5:310-317.

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

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 (1995) Cuban optic neuropathy. Neurology 45:397.

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

49) Torroni A, Carelli C, Petrozzi M, Terracina M, Barboni P, Malpassi P, Wallace DC, Scozzari R (1996) 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.

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

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

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

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

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 (1997) 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.

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

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

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 (1997) Differential structuring of human populations for homologous X and Y microsatellite loci. Am J Hum Genet 61:719-733.

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

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

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

61) Estivill X, Govea N, Barcelo A, Perello E, Badenas C, Romero E, Moral L, Scozzari R, D'Urbano L, Zeviani M, Torroni A (1998) 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.

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

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 (1998) MtDNA analysis reveals a major late Palaeolithic population expansion from southwestern to northeastern Europe. Am J Hum Genet 62:1137-1152.

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

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

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 (1999) Combined use of biallelic and microsatellite Y chromosome polymorphisms to infer genetic affinities among African human populations. Am J Hum Genet 65:829-846.

67) [AT1]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 (1999) 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.

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

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

70) Torroni A (2000) 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 Archaelogical Research, chapter 6, pp. 75-87.

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

72) McMahon FJ, Chen Y-S, Patel S, Kokoszka J, Brown MD, Torroni A, DePaulo JR, Wallace DC (2000) Mitochondrial DNA sequence diversity in bipolar affective disorder. Am J Psychiatry 157:1058-1064.

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 (2000) Patterns of male-specific inter-population divergence in Europe, West Asia and North Africa. Ann Hum Genet 64:395-412.

74) Malaspina P, Cruciani F, Torroni A, Terrenato L, Novelletto A, Scozzari R (2000) 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 Archaelogical Research, Cambridge. Chapter 16, pp. 163-165.

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, Calì F, Vona G, Demaine A, Papiha S, Triantaphyllidis C, Stefanescu G, Hatina J, Belledi M, Di Rienzo A, Novelletto A, Oppenheim A, Nørby S, Al-Zaheri N, Santachiara-Benerecetti A.S, Scozzari R, Torroni A, Bandelt H-J (2000) Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet 67:1251-1276.

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

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

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 (2001) Human Y-chromosome variation in the western Mediterranean area: Implications for the peopling of the region. Hum Immunol 62:871-884.

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 (2001) Phylogeography of the human mitochondrial haplogroup L3e: a snapshot of African prehistory and Atlantic slave trade. Ann Hum Genet 65:549-563.

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

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

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 (2001) A signal, from human mtDNA, of postglacial recolonization in Europe. Am J Hum Genet 69:844-852.

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 (2001) Do the four clades of the mtDNA haplogroup L2 evolve at different rates? Am J Hum Genet 69:1348-1356.

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 (2002) 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.

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 (2002) Founding mothers of Jewish communities: geographically separated Jewish groups were independently founded by very few female ancestors. Am J Hum Genet 70:1411-1420.

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

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

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

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

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

91) Al-Zahery N, Semino O, Benuzzi G, Magri C, Passarino G, Torroni A, Santachiara-Benerecetti AS (2003) 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.

92) Cruciani F, Bernardini L, Santolamazza P, Modiano D, Torroni A, Scozzari R (2003) 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.

93) 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 (2003) Identification of Native American founder mtDNAs through the analysis of complete mtDNA sequences: some caveats. Ann Hum Genet 67:512-524.

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 (2003) Origin and diffusion of mtDNA haplogroup X. Am J Hum Genet 73:1178-1190.

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

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 (2004) Where West meets East: The complex mtDNA landscape of the Southwest and Central Asian corridor. Am J Hum Genet 74:827-845.

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 (2004) 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.

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 (2004) 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.

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 (2004) Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in Europe. Am J Hum Genet 75:128-137.

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

101) 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 (2004) 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.

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

103) 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 (2004) A novel LHON mutation 3733G>A (E143K) of mtDNA reveals that ND1 gene of complex I is an additional mutational hot spot. Ann Neurol 56:631-641.

104) Achilli A, Rengo C, Battaglia V, Pala M, Olivieri A, Fornarino S, Magri C, Scozzari R, Babudri N, Santachiara-Benerecetti AS, Bandelt HJ, Semino O, Torroni A (2005) Saami and Berbers - An Unexpected Mitochondrial DNA Link. Am J Hum Genet 76:Epub ahead of print.