Genetic history of some western Mediterranean human isolates through mtDNA HVR1 polymorphisms

Journal of Human Genetics

Volumn 51, Issue 1, 2006, Pages 9-14

  Falchi, Alessandra ^a   Giovannoni, Laurianne ^a   Calo, Carla Maria ^b   Piras, Ignazio Stefano ^b   Moral, Pedro ^c   Paoli, Giorgio ^d   Vona, Giuseppe ^b   Varesi, Laurent ^a  

^a UNIVERSITÉ DE CORSE   (France)

^b UNIVERSITY OF CAGLIARI   (Italy)

^c UNIVERSITY OF BARCELONA   (Spain)

^d UNIVERSITY OF PISA   (Italy)

Author keywords

D loop; Isolates; Mediterranean populations; MtDNA; Paleolithic

Indexed keywords

MITOCHONDRIAL DNA; VIRUS DNA;

DNA POLYMORPHISM; GENE FLOW; GENE SEQUENCE; GENETIC DIFFERENCE; GENETIC SIMILARITY; GENETIC TRAIT; GENETIC VARIABILITY; HAPLOTYPE; HISTORICAL GEOGRAPHIC NAMES; HUMAN; MIGRATION; NUCLEOTIDE SEQUENCE; PALEONTOLOGY; SHORT SURVEY;

BASE SEQUENCE; DNA PRIMERS; DNA, MITOCHONDRIAL; HUMANS; POLYMORPHISM, GENETIC;

EID: 31544479841     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-005-0324-y     Document Type: Short Survey

References (51)

1. Anderson S, Bankier AT, Barrell BG, De Bruijn MHL, Coulson AP, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJH, Staden R, Young IG (1981) Sequence and organisation of the human mitochondrial genome. Nature 290:457-465
2. Bertranpetit J, Sala J, Calafell F, Underhill PA, Moral P, Comas D (1995) Human mitochondrial DNA variation and the origin of Basques. Ann Hum Genet 59:63-81
3. Cavalli-Sforza LL, Menozzi P, Piazza A (1994) History and geography of human genes. Princeton University Press, Princeton, NJ
4. Comas D, Calafell F, Mateu E, Perez-Lezaun A, Bertranpetit J (1996) Geographic variation in human mitochondrial DNA control region sequence: the population history of Turkey and its relationship to the European populations. Mol Biol Evol 13:1067-1077
5. Comas D, Calafell F, Benchemsi N, Helal A, Lefranc G, Stoneking M, Batzer MA, Bertranpetit J, Sajantila A (2000) Alu insertion polymorphisms in NW Africa and the Iberian Peninsula: evidence for a strong genetic boundary through the Gibraltar Straits. Hum Genet 107:312-319
6. Côrte-Real HB, Macaulay VA, Richards MB, Hariti G, Issad MS, Cambon-Thomsen A, Papiha S, Bertranpetit J, Sykes BC (1996) Genetic diversity in the Iberian Peninsula determined from mitochondrial sequence analysis. Am Hum Genet 60:331-350
7. Di Rienzo A, Wilson AC (1991) Branching pattern in the evolutionary tree for human mitochondrial DNA. Proc Natl Acad Sci USA 88:1597-1601
8. Esteban E, Gonzalez-Perez E, Harich N, Lopez-Alomar A, Via M, Luna F, Moral P (2004) Genetic relationships among Berbers and South Spaniards based on CD4 microsatellite/Alu haplotypes. Ann Hum Biol 31:202-212
9. Excoffier L, Yang Z (1999) Substitution rate among sites in mitochondrial hypervariable region I of humans and chimpanzees. Mol Biol Evol 16:1357-1358
10. Fadhlaoui-Zid K, Plaza S, Calafell F, Ben Amor M, Comas D, Bennamar Elgaaied A (2004) Mitochondrial DNA heterogeneity in Tunisian Berbers. Ann Hum Genet 68:222-233
11. Falchi A, Giovannoni L, Vacca L, Latini V, Vona G, Varesi L (2005) Beta-globin gene cluster haplotypes associate with beta-thalassemia on Corsica island. Am J Hematol 78:27-32
12. Felsenstein J (1989) Phylip - phylogeny inference package (version 3.2). Cladistics 5:164-166
13. Flores C, Maca-Meyer N, Gonzalez AM, Oefner PJ, Shen P, Perez JA, Rojas A, Larruga JM, Underhill PA (2004) Reduced genetic structure of the Iberian peninsula revealed by Y-chromosome analysis: implications for population demography. Eur J Hum Genet 12:855-863
14. Fox CL, Gonzalez Martin A, Vives Civit S (1996) Cranial variation in the Iberian Peninsula and the Balearic Islands: inferences about the history of the population. Am J Phys Anthropol 99:413-428
15. Francalacci P, Bertranpetit J, Calafell F, Underhill PA (1996) Sequence diversity of the control region of mitochondrial DNA in Tuscany and its implications for the peopling of Europe. Am J Phys Anthropol 100:443-460
16. Jorde LB, Bamshad MJ, Watkins WS, Zenger R, Fraley AE, Krakowiak PA, Carpenter KD, Soodyall H, Jenkins T, Rogers AR (1995) Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic data. Am J Hum Genet 57:523-538
17. Krings M, Salem AE, Bauer K, Geisert H, Malek AK, Chaix L, Simon C, Welsby D, Di Rienzo A, Utermann G, Sajantila A, Paabo S, Stoneking M (1999) mtDNA analysis of Nile River Valley populations: a genetic corridor or a barrier to migration? Am J Hum Genet 64:1166-1176
18. Kumar S, Tamura K, Nei M (2004) MEGA3: integrated software for Molecular Evolutionary Genetics Analysis and sequence alignment. Brief Bioinform 5:150-163
19. Malaspina P, Cruciani F, Santolamazza P, Torroni A, Pangrazio A, Akar N, Bakalli V, Brdicka R, Jaruzelska J, Kozlov A, Malyarchuk B, Medhi 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
20. Massanet MF, Castro JA, Picornell A, Misericordia RM (1997) Study of the population of the Balearic Islands (Spain) using mtDNA RFLPs. Hum Biol 69:483-498
21. Menozzi P, Piazza A, Cavalli-Sforza L (1978) Synthetic maps of human gene frequencies in Europeans. Science 201:786-792
22. Miguel A, Castro JA, Ramon MM, Petipierre E (1990) Red cell enzyme polymorphisms in the Balearic Islands. A comparison based multivariate analysis. Gene Geogr 4:89-98
23. Moral P (1985) Estudio antropogenético de diversos polimorfismos hematologicos in la isla de Menorca. PhD thesis, Universitat de Barcelona, Barcelona, Spain
24. Mountain JL, Herbert JM, Bhattacharyya S, Underhill PA, Ottolenghi C, Gadgil M, Cavalli-Sforza LL (1995) Demographic history of India and mtDNA-sequence diversity. Am J Hum Genet 56:979-992
25. Nei M (1984) On the positive identification of paternity. Hum Hered 34:258-260
26. Nei M, Kumar S (2000) Molecular evolution and phylogenetics. Oxford University Press, New York, NY
27. Picornell A, Miguel A, Castro JA, Misericordia RM, Arya R, Crawford MH (1996) Genetic variation in the population of Ibiza (Spain): genetic structure, geography and language. Hum Biol 68:899-913
28. Picornell A, Gomez-Barbeito L, Tomas C, Castro JA, Ramon MM (2005) Mitochondrial DNA HVR1 variation in Balearic populations. Am J Phys Anthropol 128:119-130
29. Plaza S, Calafell F, Helal A, Bouzerna N, Lefranc G, Bertranpetit J, Comas D (2003) Joining the pillars of Hercules: mtDNA sequences show multidirectional gene flow in the western Mediterranean. Ann Hum Genet 67:312-328
30. Rando JC, Pinto F, Gonzalez AM, Hernandez M, Larruga JM, Cabrera VM, Bandelt HJ (1998) Mitochondrial DNA analysis of northwest African populations reveals genetic exchanges with European, near-eastern, and sub-Saharan populations. Ann Hum Genet 62:531-550
31. Richards M, Corte-Real H, Forster P, Macaulay V, Wilkinson-Herbots H, Demaine A, Papiha S, Hedges R, Bandelt HJ, Sykes B (1996) Paleolithic and neolithic lineages in the european mitochondrial gene pool. Am J Hum Genet 59:185-203
32. 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, Golge M, Dimitrov D, Hill E, Bradley D, Romano V, Cali F, Vona G, Demaine A, Papiha S, Triantaphyllidis C, Stefanescu G, Hatina J, Belledi M, Di Rienzo A, Novelletto A, Oppenheim A, Norby S, Al-Zaheri N, Santachiara- Benerecetti S, Scozzari R, Torroni A, Bandelt HJ (2000) Tracing european founder lineages in the near eastern mtDNA pool. Am J Hum Genet 67:1251-1276
33. Saitou N, Nei M (1987) The neighbor-joining method: a new method for reconstructing phylogenetic trees. Mol Biol Evol 4:406-425
34. Salas A, Comas D, Lareu MV, Bertranpetit J, Carracedo A (1998) mtDNA analysis of the Galician population: a genetic edge of European variation. Eur J Hum Genet 6:365-375
35. Semino O, Passarino G, Brega A, Fellous M, Santachiara-Benerecetti AS (1996) A view of the Neolithic demic diffusion in Europe through two Y chromosome-specific markers. Am J Hum Genet 59:964-968
36. Sokal RR, Menozzi P (1982) Spatial autocorrelation of HLA frequencies in Europe support demic diffusion of early farmers. Am Nat 119:1-17
37. Sokal RR, Harding RM, Oden NL (1989) Spatial patterns of human gene frequencies in Europe. Am J Phys Anthropol 80:267-294
38. Stenico M, Nigro L, Bertorelle G, Calafell F, Capitanio M, Corrain C, Barbujani G (1996) High mitochondrial sequence diversity in linguistic isolates of the Alps. Am J Hum Genet 59:1363-1375
39. Tambets K, Rootsi S, Kivisild T, Help H, Serk P, Loogvali EL, Tolk HV, Reidla M, Metspalu E, Pliss L, Balanovsky O, Pshenichnov A, Balanovska E, Gubina M, Zhadanov S, Osipova L, Damba L, Voevoda M, Kutuev I, Bermisheva M, Khusnutdinova E, Gusar V, Grechanina E, Parik J, Pennarun E, Richard C, Chaventre A, Moisan JP, Barac L, Pericic M, Rudan P, Terzic R, Mikerezi I, Krumina A, Baumanis V, Koziel S, Rickards O, De Stefano GF, Anagnou N, Pappa KI, Michalodimitrakis E, Ferak V, Furedi S, Komel R, Beckman L, Villems R (2004) The western and eastern roots of the Saami - the story of genetic "outliers" told by mitochondrial DNA and Y chromosomes. Am J Hum Genet 74:661-682
40. Tofanelli S, Taglioli L, Varesi L, Paoli G (2004) Genetic history of the population of Corsica (western Mediterranean) as inferred from autosomal STR analysis. Hum Biol 76:229-251
41. Tomas C, Picornell A, Castro JA, Ramon MM, Gusmao L, Lareu MV, Carracedo A (2000) Genetic variability at nine STR loci in the chueta (Majorean Jews) and the Balearics populations investigated by a simple multiplex reaction. Int J Legal Med 113:263-267
42. Torroni A, Bandelt HJ, Macaulay V, Richards M, Cruciani F, Rengo C, Martinez-Cabrera V, Villems R, Kivisild T, Metspalu E, Parik J, Tolk HV, Tambets K, Forster P, Karger B, Francalacci P, Rudan P, Janicijevic B, Rickards O, Savontaus ML, Huoponen K, Laitinen V, Koivumaki 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
43. Varesi L, Memmi M, Cristofari MC, Mameli GE, Calo CM, Vona G (2000) Mitochondrial control region sequence variation in Corsican population (France). Am J Hum Biol 12:339-351
44. Vigilant L, Stoneking M, Harpending H, Hawkes K, Wilson AC (1991) African populations and the evolution of mitochondrial DNA. Science 253:1503-1507
45. Vona G, Memmi MR, Varesi L, Mameli GE, Succa V (1995) A study of several genetic markers in the corsican population (France). Anthropol Anz 53:125-132
46. Vona G, Calo CM, Lucia G, Mameli GE, Succa V, Esteban E, Moral P (1996) Genetics, geography, and culture: the population of S. Pietro Island (Sardinia, Italy). Am J Phys Anthropol 100:461-471
47. Vona G, Ghiani ME, Calo CM, Memmi M, Varesi L (2001) Mitochondrial DNA sequence analysis in Sicily. Am J Hum Biol 13:576-589
48. Vona G, Memmi M, Calo CM, Latini V, Vacca L, Succa V, Ghiani ME, Moral P, Varesi L (2002) Genetic structure of the Corsican population (France): a review. Rec Res Dev Hum Genet 1:147-164
49. Vona G, Moral P, Memmi M, Ghiani ME, Varesi L (2003) Genetic structure and affinities of the Corsican population (France): classical genetic markers analysis. Am J Hum Biol 15:151-163
50. Ward RH, Frazier BL, Dew-jager K, Paabo S (1991) Extensive mitochondrial diversity within a single amerindian tribe. Proc Natl Acad Sci USA 88:8720-8724
51. Wittig H, Aschenbrenner A, Poetsch M, Krause D, Lignitz E (2003) Variability of mitochondrial DNA in a population sample from Iceland. Leg Med (Tokyo) 5:173-176