Ethiopian mitochondrial DNA heritage: Tracking gene flow across and around the gate of tears

American Journal of Human Genetics

Volumn 75, Issue 5, 2004, Pages 752-770

  Kivisild, Toomas ^a,e   Reidla, Maere ^a   Metspalu, Ene ^a   Rosa, Alexandra ^a   Brehm, Antonio ^b   Pennarun, Erwan ^a   Parik, Jüri ^a   Geberhiwot, Tarekegn ^c   Usanga, Esien ^d   Villems, Richard ^a  

^a UNIVERSITY OF TARTU   (Estonia)

^b UNIVERSITY OF MADEIRA   (Portugal)

^c Department of Interventional Radiology   (United Kingdom)

^d UNIVERSITY OF CALABAR   (Nigeria)

^e UNIVERSITY OF TARTU   (Estonia)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; CONTROLLED STUDY; GENE CLUSTER; GENE FLOW; GENETIC LINE; HAPLOTYPE; HUMAN; INHERITANCE; NUCLEOTIDE SEQUENCE; PHYLOGENY; PRIORITY JOURNAL;

EID: 6344237725     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/425161     Document Type: Article

References (77)

1. 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
2. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turn-bull DM, Howell N (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23:147
3. Bamshad M, Kivisild T, Watkins WS, Dixon ME, Ricker CE, Rao BB, Naidu JM, Prasad BV, Reddy PG, Rasanayagam A, Papiha SS, Villems R, Redd AJ, Hammer MF, Nguyen SV, Carroll ML, Batzer MA, Jorde LB (2001) Genetic evidence on the origins of Indian caste populations. Genome Res 11: 994-1004
4. Bandelt H-J, Forster P, Röhl A (1999) Median-joining networks for inferring intraspecific phylogenies. Mol Biol Evol 16:37-48
5. Brakez Z, Bosch E, Izaabel H, Akhayat O, Comas D, Bertranpetit J, Calafell F (2001) Human mitochondrial DNA sequence variation in the Moroccan population of the Souss area. Ann Hum Biol 28:295-307
6. Cavalli-Sforza LL (1997) Genes, peoples, and languages. Proc Natl Acad Sci USA 94:7719-7724
7. Cavalli-Sforza LL, Menozzi P, Piazza A (1994) The history and geography of human genes. Princeton University Press, Princeton, NJ
8. Chen Y-S, Olckers A, Schurr TG, Kogelnik AM, Huoponen K, Wallace DC (2000) mtDNA variation in the South African Kung and Khwe - and their genetic relationships to other African populations. Am J Hum Genet 66:1362-1383
9. Chen Y-S, Torroni A, Excoffier L, Santachiara-Benerecetti AS, Wallace DC (1995) Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups. Am J Hum Genet 57:133-149
10. Clark JD, Beyene Y, WoldeGabriel G, Hart WK, Renne PR, Gilbert H, Defleur A, Suwa G, Katoh S, Ludwig KR, Boisserie JR, Asfaw B, White TD (2003) Stratigraphic, chronological and behavioural contexts of Pleistocene Homo sapiens from Middle Awash, Ethiopia. Nature 423:747-752
11. Coble MD, Just RS, O'Callaghan JE, Letmanyi IH, Peterson CT, Irwin JA, Parsons TJ (2004) Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians. Int J Legal Med 118:137-146
12. Corbo RM, Scacchi R, Rickards O, Martinez-Labarga C, De Stefano GF (1999) An investigation of human apolipoproteins B and E polymorphisms in two African populations from Ethiopia and Benin. Am J Hum Biol 11:297-304
13. Corte-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. Ann Hum Genet 60: 331-350
14. 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
15. Derbeneva OA, Starikovskaia EB, Volod'ko NV, Wallace DC, Sukernik RI (2002) [Mitochondrial DNA variation in Kets and Nganasans and the early peoples of Northern Eurasia]. Genetika 38:1554-1560
16. Diakonoff IM (1988) Afrasian languages. Nauka Press, Moscow
17. Di Rienzo A, Wilson AC (1991) Branching pattern in the evolutionary tree for human mitochondrial DNA. Proc Natl Acad Sci USA 88:1597-1601
18. Dupanloup I, Bertorelle G (2001) Inferring admixture proportions from molecular data: extension to any number of parental populations. Mol Biol Evol 18:672-675
19. Ehret C (1995) Reconstructing proto-Afroasiatic: consonants, vowels, tone and vocabulary. University of California Press, Berkeley
20. Finnilä S, Lehtonen MS, Majamaa K (2001) Phylogenetic network for European mtDNA. Am J Hum Genet 68:1475-1484
21. Forster P (2004) Ice Ages and the mitochondrial DNA chronology of human dispersals: a review. Philos Trans R Soc Lond B Biol Sci 359:255-264
22. 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
23. Fort M, de Stefano GF, Cambon-Thomsen A, Giraldo-Alvarez P, Dugoujon JM, Ohayon E, Scano G, Abbal M (1998) HLA class II allele and haplotype frequencies in Ethiopian Amhara and Oromo populations. Tissue Antigens 51:327-336
24. Graven L, Passarino G, Semino O, Boursot P, Santachiara-Benerecetti S, Langaney A, Excoffier L (1995) Evolutionary correlation between control region sequence and restriction polymorphisms in the mitochondrial genome of a large Senegalese Mandenka sample. Mol Biol Evol 12:334-345
25. Hanotte O, Bradley DG, Ochieng JW, Verjee Y, Hill EW, Rege JE (2002) African pastoralism: genetic imprints of origins and migrations. Science 296:336-339
26. Harris J (1971) The African presence in Asia: consequences of the East African slave trade. Northwestern University Press, Evanston, IL
27. Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, Anderson C, Ghosh SS, Olefsky JM, Beal MF, Davis RE, Howell N (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. Am J Hum Genet 70:1152-1171
28. Howell N, Elson JL, Turnbull DM, Herrnstadt C (2004) African haplogroup L mtDNA sequences show violations of clock-like evolution. Mol Biol Evol 21:1843-1854
29. Ingman M, Kaessmann H, Pääbo S, Gyllensten U (2000) Mitochondrial genome variation and the origin of modern humans. Nature 408:708-713
30. Kivisild T, Bamshad MJ, Kaldma K, Metspalu M, Metspalu E, Reidla M, Laos S, Parik J, Watkins WS, Dixon ME, Papiha SS, Mastana SS, Mir MR, Ferak V, Villems R (1999) Deep common ancestry of Indian and western-Eurasian mitochondrial DNA lineages. Curr Biol 9:1331-1334
31. Kivisild T, Rootsi S, Metspalu M, Mastana S, Kaldma K, Parik J, Metspalu E, Adojaan M, Tolk H-V, Stepanov V, Gölge M, Usanga E, Papiha SS, Cinnioǧlu C, King R, Cavalli-Sforza L, Underbill PA, Villems R (2003a) The genetic heritage of the earliest settlers persists both in Indian tribal and caste populations. Am J Hum Genet 72:313-332
32. Kivisild T, Rootsi S, Metspalu M, Metspalu E, Parik J, Kaldma K, Usanga E, Mastana S, Papiha S, Villems R (2003b) The genetics of language and farming spread in India. In: Bellwood P, Renfrew C (eds) Examining the farming/language dispersal hypothesis. McDonald Institute for Archaeological Research, Cambridge, UK, pp 215-222
33. Knight A, Underhill PA, Mortensen HM, Zhivotovsky LA, Lin AA, Henn BM, Louis D, Ruhlen M, Mountain JL (2003) African Y chromosome and mtDNA divergence provides insight into the history of click languages. Curr Biol 13:464-473
34. Krings M, Salem A-eH, Bauer K, Geisert H, Malek AK, Chaix L, Simon C, Welsby D, Di Rienzo A, Utermann G, Sajantila A, Pääbo 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
35. Lahr M, Foley R (1994) Multiple dispersals and modern human origins. Evol Anthropol 3:48-60
36. Levine DN (1974) Greater Ethiopia: the evolution of multiethnic society. University of Chicago Press, Chicago
37. Luis JR, Rowold DJ, Regueiro M, Caeiro B, Cinnioǧlu C, Roseman C, Underhill PA, Cavalli-Sforza LL, Herrera RJ (2004) The Levant versus the Horn of Africa: evidence for bidirectional corridors of human migrations. Am J Hum Genet 74:532-544
38. Maca-Meyer N, Gonzalez AM, Larruga JM, Flores C, Cabrera VM (2001) Major genomic mitochondrial lineages delineate early human expansions. BMC Genet 2:13
39. Maca-Meyer N, Gonzalez AM, Pestano J, Flores C, Larruga JM, Cabrera VM (2003) Mitochondrial DNA transit between West Asia and North Africa inferred from U6 phylogeography. BMC Genet 4:15
40. Macaulay VA, Richards MB, Hickey E, Vega E, Cruciani F, Guida V, Scozzari R, Bonné-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
41. McMahon FJ, Chen YS, 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
42. Metspalu E, Kivisild T, Kaldma K, Parik J, Reidla M, Tambets K, Villems R (1999) The Trans-Caucasus and the expansion of the Caucasoid-specific human mitochondrial DNA. In: Papiha S, Deka R, Chakraborty R (eds) Genomic diversity: application in human population genetics. Kluwer Academic/ Plenum Publishers, New York, pp 121-134
43. Militarev A (2003) Prehistory of dispersal: proto-Afrasian (Afroasiatic) farming lexicon. In: Bellwood P, Renfrew C (eds) Examining the farming/language dispersal hypothesis. McDonald Institute for Archaeological Research, Cambridge, UK, pp 135-151
44. Mishmar D, Ruiz-Pesini E, Golik P, Macaulay V, Clark AG, Hosseini S, Brandon M, Easley K, Chen E, Brown MD, Sukernik RI, Olckers A, Wallace DC (2003) Natural selection shaped regional mtDNA variation in humans. Proc Natl Acad Sci USA 100:171-176
45. Mountain JL, Hebert JM, Bhattacharyya S, Underbill PA, Ortolenghi C, Gadgil M, Cavalli-Sforza LL (1995) Demographic history of India and mtDNA-sequence diversity. Am J Hum Genet 56:979-992
46. Munro-Hay S (1991) Aksum: an African civilisation of late antiquity. Edinburgh University Press, Edinburgh
47. Nei M (1987) Molecular evolutionary genetics. Columbia University Press, New York
48. Passarino G, Semino O, Quintana-Murci L, Excoffier L, Hammer M, Santachiara-Benerecetti AS (1998) Different genetic components in the Ethiopian population, identified by mtDNA and Y-chromosome polymorphisms. Am J Hum Genet 62:420-434
49. 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
50. 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
51. Quintana-Murci L, Chaix R, Wells RS, Behar DM, Sayar H, 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
52. Quintana-Murci L, Semino O, Bandelt H-J, Passarino G, McElreavey K, Santachiara-Benerecetti AS (1999) Genetic evidence of an early exit of Homo sapiens sapiens from Africa through eastern Africa. Nat Genet 23:437-441
53. 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
54. Reidla M, Kivisild T, Metspalu E, Kaldma K, Tambets K, Tolk H-V, Parik J, et al (2003) Origin and diffusion of mtDNA haplogroup X. Am J Hum Genet 73:1178-1190
55. Richards M, Macaulay V, Hickey E, Vega E, Sykes B, Guida V, Rengo C, et al (2000) Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet 67:1251-1276
56. 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. AmJ Hum Genet 72:1058-1064
57. Rosa A, Brehm A, Kivisild T, Metspalu E, Villems R (2004) mtDNA profile of West Africa Guineans: towards a better understanding of the Senegambia region. Ann Hum Genet 68:340-352
58. Saillard J, Forster P, Lynnerup N, Bandelt H-J, Nørby S (2000) mtDNA variation among Greenland Eskimos: the edge of the Beringian expansion. Am J Hum Genet 67:718-726
59. Salas A, Richards M, De Ia Fe T, Lareu M-V, Sobrino B, Sánchez-Diz P, Macaulay V, Carracedo A (2002) The making of the African mtDNA landscape. Am J Hum Genet 71:1082-1111
60. Salas A, Richards M, Lareu M-V, 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
61. Sauer C (1962) Seashore: primitive home of man? Proc Am Phil Soc 106:41-47
62. Schneider S, Roessli D, Excoffier L (2000) Arlequin version 2.000: a software for population genetics data analysis. University of Geneva, Genetics and Biochemistry Laboratory, Geneva
63. 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
64. Semino O, Santachiara-Benerecetti A, Falaschi F, Cavalli-Sforza LL, Underhill PA (2002) Ethiopians and Khoisan share the deepest clades of the human Y-chromosome phylogeny. Am J Hum Genet 70:265-268
65. Shen P, Lavi T, Kivisild T, Chou V, Sengun D, Gefel D, Shpirer I, Woolf E, Hillel J, Feldman M, Oefner P (2004) Reconstruction of patri- and matri-lineages of Samaritans and other Israeli populations from Y-chromosome and mitochondrial DNA sequence variation. Hum Mut 24: 248-260
66. Soodyall H, Vigilant L, Hill AV, Stoneking M, Jenkins T (1996) mtDNA control-region sequence variation suggests multiple independent origins of an "Asian-specific" 9-bp deletion in sub-Saharan Africans. Am J Hum Genet 58:595-608
67. Stevanovitch A, Gilles A, Bouzaid E, Kefi R, Paris F, Gayraud RP, Spadoni JL, El-Chenawi F, Beraud-Colomb E (2004) Mitochondrial DNA sequence diversity in a sedentary population from Egypt. Ann Hum Genet 68:23-39
68. Stringer C (2000) Coasting out of Africa. Nature 405:24-25, 27
69. Tambets K, Tolk HV, Kivisild T, Metspalu E, Parik J, Reidla M, Voevoda M, Damba L, Bermisheva M, Khusnutdinova E, Golubenko M, Stepanov V, Puzyrev V, Usanga E, Rudan P, Beckmann L, Villems R (2003) Complex signals for population expansions in Europe and beyond. In: Bellwood P, Renfrew C (eds) Examining the farming/language dispersal hypothesis. McDonald Institute for Archaeological Research Monograph Series, Cambridge University Press, Cambridge UK, pp 449-458
70. Thomas MG, Parfitt T, Weiss DA, Skorecki K, Wilson JF, le Roux M, Bradman N, Goldstein DB (2000) Y chromosomes traveling south: the Cohen modal haplotype and the origins of the Lemba - the "Black Jews of southern Africa." Am J Hum Genet 66:674-686
71. 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
72. Torroni A, Rengo C, Guida V, Cruciani F, Sellitto D, Coppa A, Calderon FL, 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
73. Underhill PA, Shen P, Lin AA, Jin L, Passarino G, Yang WH, Kauffman E, Bonne-Tamir B, Bertranpetit J, Francalacci P, Ibrahim M, Jenkins T, Kidd JR, Mehdi SQ, Seielstad MT, Wells RS, Piazza A, Davis RW, Feldman MW, Cavalli-Sforza LL, Oefner PJ (2000) Y chromosome sequence variation and the history of human populations. Nat Genet 26:358-361
74. Walter RC, Buffler RT, Bruggemann JH, Guillaume MM, Berhe SM, Negassi B, Libsekal Y, Cheng H, Edwards RL, von Cosel R, Neraudeau D, Gagnon M (2000) Early human occupation of the Red Sea coast of Eritrea during the last interglacial. Nature 405:65-69
75. Watson E, Forster P, Richards M, Bandelt H-J (1997) Mitochondrial footprints of human expansions in Africa. Am J Hum Genet 61:691-704
76. White TD, Asfaw B, DeGusta D, Gilbert H, Richards GD, Suwa G, Howell FC (2003) Pleistocene Homo sapiens from Middle Awash, Ethiopia. Nature 423:742-747
77. Vigilant L, Stoneking M, Harpending H, Hawkes K, Wilson AC (1991) African populations and the evolution of human mitochondrial DNA. Science 253:1503-1507