Skip to main content
SpringerLink
Log in
Book cover

Human Mitochondrial DNA and the Evolution of Homo sapiens pp 149–179Cite as

The World mtDNA Phylogeny

  • Chapter

Part of the book series: Nucleic Acids and Molecular Biology ((NUCLEIC,volume 18))

This is a preview of subscription content, log in via an institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   129.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD   169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Achilli A, Rengo C, Magri C et al. (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

    PubMed  CAS  Google Scholar 

  • Alves-Silva J, da Silva Santos M, Guimarães PE, Ferreira AC, Bandelt H-J, Pena SD, Prado VF (2000) The ancestry of Brazilian mtDNA lineages. Am J Hum Genet 67:444–461 (erratum 67:775)

    PubMed  CAS  Google Scholar 

  • Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457–465

    PubMed  CAS  Google Scholar 

  • Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23:147

    PubMed  CAS  Google Scholar 

  • Avise JC (2000) Phylogeography: The history and formation of species. Harvard University Press, Cambridge

    Google Scholar 

  • Bandelt H-J, Forster P, Sykes BC, Richards MB (1995) Mitochondrial portraits of human populations using median networks. Genetics 141:743–753

    PubMed  CAS  Google Scholar 

  • Bandelt H-J, Forster P (1997) The myth of bumpy hunter-gatherer mismatch distributions. Am J Hum Genet 61:980–983

    PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  • Bandelt H-J, Macaulay V, Richards M (2003b) What molecules can’t tell us about the spread of languages and the Neolithic. In: Bellwood P, Renfrew C (eds) Examining the farming/language dispersal hypothesis. McDonald Institute for Archaeological Research, Cambridge, pp 99–111

    Google Scholar 

  • Barbujani G, Bertorelle G (2001) Genetics and the population history of Europe. Proc Natl Acad Sci USA 98:22–25

    PubMed  CAS  Google Scholar 

  • Cann RL, Stoneking M, Wilson AC (1987) Mitochondrial DNA and human evolution. Nature 325:31–36

    PubMed  CAS  Google Scholar 

  • Cavalli-Sforza LL, Menozzi P, Piazza A (1994) The history and geography of human genes. Princeton University Press, Princeton

    Google Scholar 

  • Chen YS, 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

    PubMed  CAS  Google Scholar 

  • Chen YS, 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

    PubMed  CAS  Google Scholar 

  • Chikhi L, Nichols RA, Barbujani G, Beaumont MA (2002) Y genetic data support the Neolithic demic diffusion model. Proc Natl Acad Sci USA 99:11008–11013

    PubMed  CAS  Google Scholar 

  • 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 118:137–146

    Google Scholar 

  • Cordaux R, Saha N, Bentley GR, Aunger R, Sirajuddin SM, Stoneking M (2003) Mitochondrial DNA analysis reveals diverse histories of tribal populations from India. Eur J Hum Genet 11:253–264

    PubMed  CAS  Google Scholar 

  • Coskun PE, Beal MF, Wallace DC (2004) Alzheimer’s brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication. Proc Natl Acad Sci USA 101:10726–10731

    PubMed  CAS  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • Dalton R (2003) The coast road. Nature 422:10–12

    PubMed  CAS  Google Scholar 

  • Denaro M, Blanc H, Johnson MJ, Chen KH, Wilmsen E, Cavalli-Sforza LL, Wallace DC (1981) Ethnic variation in Hpa 1 endonuclease cleavage patterns of human mitochondrial DNA. Proc Natl Acad Sci USA 78:5768–5772

    PubMed  CAS  Google Scholar 

  • Elson JL, Andrews RM, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N (2001) Analysis of European mtDNAs for recombination. Am J Hum Genet 68:145–153

    PubMed  CAS  Google Scholar 

  • Elson JL, Turnbull DM, Howell N (2004) Comparative genomics and the evolution of human mitochondrial DNA: assessing the effects of selection. Am J Hum Genet 74:229–238

    PubMed  CAS  Google Scholar 

  • Finnilä S, Lehtonen MS, Majamaa K (2001) Phylogenetic network for European mtDNA. Am J Hum Genet 68:1475–1484

    PubMed  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • Friedlaender J, Schurr T, Gentz F, Koki G, Friedlaender F, Horvat G, Babb P, Cerchio S, Kaestle F, Schanfield M, Deka R, Yanagihara R, Merriwether DA (2005) Expanding southwest Pacific mitochondrial haplogroups P and Q. Mol Biol Evol 22:1506–1517

    PubMed  CAS  Google Scholar 

  • Giacchetti M, Monticelli A, De Biase I, Pianese L, Turano M, Filla A, De Michele G, Cocozza S (2004) Mitochondrial DNA haplogroups influence the Friedreich’s ataxia phenotype. J Med Genet 41:293–295

    PubMed  CAS  Google Scholar 

  • Giles RE, Blanc H, Cann HM, Wallace DC (1980) Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci USA 77:6715–6719

    PubMed  CAS  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • Hasegawa M, Di Rienzo A, Kocher TD, Wilson AC (1993) Toward a more accurate time scale for the human mitochondrial DNA tree. J Mol Evol 37:347–354

    PubMed  CAS  Google Scholar 

  • 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 (erratum 71:448-449)

    PubMed  CAS  Google Scholar 

  • Hewitt G (2000) The genetic legacy of the Quaternary ice ages. Nature 405:907–913

    PubMed  CAS  Google Scholar 

  • Hey J (1998) Population genetics and human origins—haplotypes are key! Trends Genet 14:303–305

    PubMed  CAS  Google Scholar 

  • Heyer E, Zietkiewicz E, Rochowski A, Yotova V, Puymirat J, Labuda D (2001) Phylogenetic and familial estimates of mitochondrial substitution rates: study of control region mutations in deep-rooting pedigrees. Am J Hum Genet 69:1113–1126

    PubMed  CAS  Google Scholar 

  • Howell N, Smejkal CB, Mackey DA, Chinnery PF, Turnbull DM, Herrnstadt C (2003) The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates. Am J Hum Genet 72:659–670

    PubMed  CAS  Google Scholar 

  • Huerta C, Castro MG, Coto E, Blázquez M, Ribacoba R, Guisasola LM, Salvador C, Martínez C, Lahoz CH, Alvarez V (2005) Mitochondrial DNA polymorphisms and risk of Parkinson’s disease in Spanish population. J Neurol Sci 236:49–54

    PubMed  CAS  Google Scholar 

  • Ingman M, Kaessmann H, Pääbo S, Gyllensten U (2000) Mitochondrial genome variation and the origin of modern humans. Nature 408:708–713

    PubMed  CAS  Google Scholar 

  • Ingman M, Gyllensten U (2003) Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines. Genome Res 13:1600–1606

    PubMed  CAS  Google Scholar 

  • Kivisild T, Villems R (2000) Questioning evidence for recombination in human mitochondrial DNA. Science 288:1931a

    Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • Kivisild T, Tolk H-V, Parik J, Wang Y, Papiha SS, Bandelt H-J, Villems R (2002) The emerging limbs and twigs of the East Asian mtDNA tree. Mol Biol Evol 19:1737–1751 (erratum 20:162)

    PubMed  CAS  Google Scholar 

  • 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, Cinnioğlu C, King R, Cavalli-Sforza L, Underhill PA, Villems R (2003) The genetic heritage of the earliest settlers persists both in Indian tribal and caste populations. Am J Hum Genet 72:313–332

    PubMed  CAS  Google Scholar 

  • Kivisild T, Reidla M, Metspalu E, Rosa A, Brehm A, Pennarun E, Parik J, Geberhiwot T, Usanga E, Villems R (2004) Ethiopian mitochondrial DNA heritage: tracking gene flows across and around the Strait of Tears. Am J Hum Genet 75:752–770

    PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  • Klein J, Takahata N (2001) Where do we come from? The molecular evidence for human descent. Springer, Berlin Heidelberg New York

    Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • Kong Q-P, Yao Y-G, Sun C, Bandelt H-J, Zhu C-L, Zhang Y-P (2003) Phylogeny of East Asian mitochondrial DNA lineages inferred from complete sequences. Am J Hum Genet 73:671–676 (erratum 75:157)

    PubMed  CAS  Google Scholar 

  • Kraytsberg Y, Schwartz M, Brown TA, Ebralidse K, Kunz WS, Clayton DA, Vissing J, Khrapko K (2004) Recombination of human mitochondrial DNA. Science 304:981

    PubMed  CAS  Google Scholar 

  • Krings M, Stone A, Schmitz RW, Krainitzki H, Stoneking M, Paabo S (1997) Neandertal DNA sequences and the origin of modern humans. Cell 90:19–30

    PubMed  CAS  Google Scholar 

  • Kumar S, Tamura K, Jakobsen IB, Nei M (2001) MEGA2: molecular evolutionary genetics analysis software. Arizona State University, Tempe

    Google Scholar 

  • Loogväli EL, Roostalu U, Malyarchuk BA, Derenko MV, Kivisild T, Metspalu E, Tambets K, et al. (2004) Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia. Mol Biol Evol 21:2012–2021

    PubMed  Google Scholar 

  • Lynch M (1996) Mutation accumulation in transfer RNAs: molecular evidence for Muller’s ratchet in mitochondrial genomes. Mol Biol Evol 13:209–220

    PubMed  CAS  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • Macaulay V (2002) Book review of: Relethford JH (2001) Genetics and the search for modern human origins. Wiley, New York, Heredity 89:160

    Google Scholar 

  • Malyarchuk BA, Rogozin IB (2004) Mutagenesis by transient misalignment in the human mitochondrial DNA control region. Ann Hum Genet 68:324–339

    PubMed  CAS  Google Scholar 

  • Mandryk CAS, Josenhans H, Fedje DW, Mathewes RW (2001) Late Quaternary paleoenvironments of northwestern North America: implications for inland versus coastal migration routes. Quat Sci Rev 20:301–314

    Google Scholar 

  • McEvoy B, Richards M, Forster P, Bradley DG (2004) The longue durée of genetic ancestry: multiple genetic marker systems and Celtic origins on the Atlantic facade of Europe. Am J Hum Genet 75:693–702

    PubMed  CAS  Google Scholar 

  • Merriwether DA, Hodgson JA, Friedlaender FR, Allaby R, Cerchio S, Koki G, Friedlaender JS (2005) Ancient mitochondrial M haplogroups identified in the Southwest Pacific. Proc Natl Acad Sci USA 102:13034–13039

    PubMed  CAS  Google Scholar 

  • 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 (2004) 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 5:26 (erratum 6:41)

    PubMed  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • Moilanen JS, Majamaa K (2003) Phylogenetic network and physicochemical properties of nonsynonymous mutations in the protein-coding genes of human mitochondrial DNA. Mol Biol Evol 20:1195–1210

    PubMed  CAS  Google Scholar 

  • Moilanen JS, Finnil lack of polymorphisms in a segment of MTND5 gene in haplogroup. J Mol Biol Evol 20:2132–2142

    Google Scholar 

  • Myers G, Korber B, Hahn B, Jeang KT, Mellors J, McCutchan FE, Henderson L, Pavlakis G (1995) Human retroviruses and AIDS: a compilation and analysis of nucleic acid and amino acid sequences. Los Alamos National Laboratory, Los Alamos

    Google Scholar 

  • Pakendorf B, Stoneking M (2005) Mitochondrial DNA and human evolution. Annu Rev Genomics Hum Genet 6:165–183

    PubMed  CAS  Google Scholar 

  • Palanichamy Mg, Sun C, Agrawal S et al. (2004) Phylogeny of mtDNA macrohaplogroup N in India based on complete sequencing: implications for the peopling of South Asia. Am J Hum Genet 75:966–978

    PubMed  CAS  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • Pereira L, Dupanloup I, Rosser ZH, Jobling MA, Barbujani G (2001a) Y-chromosome mismatch distributions in Europe. Mol Biol Evol 18:1259–1271

    PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  • Pitulko VV, Nikolsky PA, Girya EY, Basilyan AE, Tumskoy VE, Koulakov SA, Astakhov SN, Pavlova EY, Anisimov MA (2004) The Yana RHS site: humans in the Arctic before the last glacial maximum. Science 303:52–56

    PubMed  CAS  Google Scholar 

  • Pyle A, Foltynie T, Tiangyou W, Lambert C, Keers SM, Allcock LM, Davison J et al. (2005) Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD. Ann Neurol 57:564–567

    PubMed  Google Scholar 

  • Quintana-Murci L, Chaix R, Wells S, Behar D, Sayar H, Scozzari R, Rengo C, Al-Zahery N, Semino O, Santachiara-Benerecetti A, Coppa A, Ayub Q, Mohyuddin A, Tyler-Smith C, Mehdi Q, 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

    PubMed  CAS  Google Scholar 

  • Quintáns B, Álvarez-Iglesias V, Salas A, Phillips C, Lareu MV, Carracedo A (2004) Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing. Forensic Sci Int 140:251–25

    PubMed  Google Scholar 

  • Rando JC, Pinto F, González AM, Hernández M, Larruga JM, Cabrera VM, Bandelt H-J (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

    PubMed  CAS  Google Scholar 

  • Richards M, Côrte-Real H, Forster P, Macaulay V, Wilkinson-Herbots H, Demaine A, Papiha S, Hedges R, Bandelt H-J, Sykes B (1996) Paleolithic and neolithic lineages in the European mitochondrial gene pool. Am J Hum Genet 59:185–203

    PubMed  CAS  Google Scholar 

  • Richards MB, Macaulay VA, Bandelt H-J, Sykes BC (1998) Phylogeography of mitochondrial DNA in western Europe. Ann Hum Genet 62:241–260

    PubMed  CAS  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  • Richards M, Macaulay V, Bandelt H-J (2003a) Analyzing genetic data in a model-based framework: inferences about European prehistory. In: Bellwood P, Renfrew C (eds) Examining the farming/language dispersal hypothesis. McDonald Institute for Archaeological Research, Cambridge, pp 459–466

    Google Scholar 

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

    PubMed  CAS  Google Scholar 

  • Rootsi S, Magri C, Kivisild T, Benuzzi G, Help H, Bermisheva M, Kutuev I et al. (2004) Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in Europe. Am J Hum Genet 75:128–137

    PubMed  CAS  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • Rosser ZH, Zerjal T, Hurles ME, Adojaan M, Alavantic D, Amorim A, Amos W et al. (2000) Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language. Am J Hum Genet 67:1526–1543

    PubMed  CAS  Google Scholar 

  • Ruiz-Pesini E, Lapeña A-C, Díez-Sánchez C, Pérez-Martos A, Montoya J, Alvarez E, Díaz M, Urriés A, Montoro L, López-Pérez MJ, Enríquez JA (2000) Human mtDNA haplogroups associated with high or reduced spermatozoa motility. Am J Hum Genet 67:682–696

    PubMed  CAS  Google Scholar 

  • Ruiz-Pesini E, Mishmar D, Brandon M, Procaccio V, Wallace DC (2004) Effects of purifying and adaptive selection on regional variation in humanmtDNA. Science 303:223–226

    PubMed  CAS  Google Scholar 

  • Saillard J, Magalhaes P, Schwartz M, Rosenberg T, Nørby S (2000) Mitochondrial DNA variant 11719G is a marker for the mtDNA haplogroup cluster HV. Hum Biol 72:1065–1068

    PubMed  CAS  Google Scholar 

  • Salas A, Richards M, De la Fe T, Lareu MV, Sobrino B, Sánchez-Diz P, Macaulay V, Carracedo Á (2002) The making of the African mtDNA landscape. Am J Hum Genet 71:1082–1111

    PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  • Semino O, Passarino G, Quintana-Murci L, Liu A, Beres J, Czeizel A, Santachiara-Benerecetti AS (2000) MtDNA and Y chromosome polymorphisms in Hungary: inferences from the palaeolithic, neolithic and Uralic influences on the modern Hungarian gene pool. Eur J Hum Genet 8:339–346

    PubMed  CAS  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • Shen P, Lavi T, Kivisild T, Chou V, Sengun D, Gefel D, Shpirer I, Woolf E, Hillel J, Oefner P, Feldman M (2004) Reconstruction of patrilineages and matrilineages of Samaritans and other Israeli populations from Y-chromosome and mitochondrial DNA sequence variation. Hum Mut 24:248–260

    PubMed  CAS  Google Scholar 

  • Soodyall H, Jenkins T (1992) Mitochondrial DNA polymorphisms in Khoisan populations from southern Africa. Ann Hum Genet 56:315–324

    PubMed  CAS  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • 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 the southern extent of Siberia, and the origins of Native American haplogroups. Ann Hum Genet 69:67–89

    PubMed  CAS  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • Sykes B (2001) Seven daughters of Eve. Norton, New York

    Google Scholar 

  • Tajima A, Hamaguchi K, Terao H et al. (2004) Genetic background of people in the Dominican Republic with or without obese type 2 diabetes revealed by mitochondrial DNA polymorphism. J Hum Genet 49:495–499

    PubMed  CAS  Google Scholar 

  • Tambets K, Rootsi S, Kivisild T, Help H, Serk P, Loogväli EL, Tolk H-V et al (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

    PubMed  CAS  Google Scholar 

  • Tanaka M, Cabrera VM, González AM, Larruga JM, Takeyasu T, Fuku N, Guo LJ et al. (2004) Mitochondrial genome variation in eastern Asia and the peopling of Japan. Genome Res 14:1832–1850

    PubMed  CAS  Google Scholar 

  • Tang H, Siegmund DO, Shen P, Oefner PJ, Feldman MW (2002) Frequentist estimation of coalescence times from nucleotide sequence data using a tree-based partition. Genetics 161:447–459

    PubMed  CAS  Google Scholar 

  • Torroni A, Schurr TG, Yang CC, Szathmary EJ, Williams RC, Schanfield MS, Troup GA, Knowler WC, Lawrence DN, Weiss KM et al (1992) Native American mitochondrial DNA analysis indicates that the Amerind and the Nadene populations were founded by two independent migrations. Genetics 130:153–162

    PubMed  CAS  Google Scholar 

  • 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 mtDNAs. Am J Hum Genet 53:563–590

    PubMed  CAS  Google Scholar 

  • Torroni A, Lott MT, Cabell MF, Chen YS, Lavergne L, Wallace DC (1994a) mtDNA and the origin of Caucasians: identification of ancient Caucasianspecific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region. Am J Hum Genet 55:760–776

    PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • Torroni A, Bandelt H-J, Macaulay V, Richards M, Cruciani F, Rengo C, Martinez-Cabrera V et al (2001a) A signal, from human mtDNA, of postglacial recolonization in Europe. Am J Hum Genet 69:844–852

    PubMed  CAS  Google Scholar 

  • Torroni A, Rengo C, Guida V, Cruciani F, Sellitto D, Coppa A, Calderon FL, Simionati B, Valle G, Richards M, Macaulay V, Scozzari R (2001b) Do the four clades of the mtDNA haplogroup L2 evolve at different rates? Am J Hum Genet 69:1348–1356

    PubMed  CAS  Google Scholar 

  • Trejaut JA, Kivisild T, Loo JH, Lee CL, He CL, Xi JR, Li ZY, Lin M (2005) Traces of archaic mitochondrial lineages persist in Austronesian-speaking Formosan populations. PLoS Biol 3(8):e247

    PubMed  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • Wallace DC, Brown MD, Lott MT (1999) Mitochondrial DNA variation in human evolution and disease. Gene 238:211–230

    PubMed  CAS  Google Scholar 

  • Wallace DC (2005) A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine. Annu Rev Genet 39:359–407

    PubMed  CAS  Google Scholar 

  • Watson E, Forster P, Richards M, Bandelt H-J (1997) Mitochondrial footprints of human expansions in Africa. Am J Hum Genet 61:691–704

    PubMed  CAS  Google Scholar 

  • Weale ME, Shah T, Jones AL, Greenhalgh J, Wilson JF, Nymadawa P, Zeitlin D, Connell BA, Bradman N, Thomas MG (2003) Rare deep-rooting Y chromosome lineages in humans: lessons for phylogeography. Genetics 165:229–234

    PubMed  CAS  Google Scholar 

  • Weiss G, von Haeseler A (1998) Inference of population history using a likelihood approach. Genetics 149:1539–1546

    PubMed  CAS  Google Scholar 

  • Yao Y-G, Kong Q-P, Bandelt H-J, Kivisild T, Zhang Y-P (2002) Phylogeographic differentiation of mitochondrial DNA in Han Chinese. Am J Hum Genet 70:635–651

    PubMed  CAS  Google Scholar 

  • YCC (2002) A nomenclature system for the tree of human Y-chromosomal binary haplogroups. Genome Res 12:339–348

    Google Scholar 

  • Zerjal T, Dashnyam B, Pandya A, Kayser M, Roewer L, Santos FR, Schiefenhovel W, Fretwell N, Jobling MA, Harihara S, Shimizu K, Semjidmaa D, Sajantila A, Salo P, Crawford MH, Ginter EK, Evgrafov OV, Tyler-Smith C (1997) Genetic relationships of Asians and northern Europeans, revealed by Y-chromosomal DNA analysis. Am J Hum Genet 60:1174–1183

    PubMed  CAS  Google Scholar 

  • Zischler H, Geisert H, von Haeseler A, Pääbo S (1995) A nuclear fossil of the mitochondrial D-loop and the origin of modern humans. Nature 378:489–492

    PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institute of Molecular and Cell Biology, Tartu University and Estonian Biocentre, Ria 23, 51010, Tartu, Estonia

    Toomas Kivisild, Mait Metspalu, Hans-Jürgen Bandelt, Martin Richards & Richard Villems

Authors
  1. Toomas Kivisild
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Mait Metspalu
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Hans-Jürgen Bandelt
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Martin Richards
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Richard Villems
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Department of Mathematics, University of Hamburg, Bundestr. 55, 20146, Hamburg, Germany

    Hans-Jürgen Bandelt

  2. Department of Statistics, University of Glasgow, University Avenue, Glasgow, G12 8QQ, UK

    Vincent Macaulay

  3. Institute of Integrative & Comparative Biology Faculty of Biological Sciences, University of Leeds, Leeds, LS2 9JT, UK

    Martin Richards

Rights and permissions

Reprints and permissions

Copyright information

© 2006 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Kivisild, T., Metspalu, M., Bandelt, HJ., Richards, M., Villems, R. (2006). The World mtDNA Phylogeny. In: Bandelt, HJ., Macaulay, V., Richards, M. (eds) Human Mitochondrial DNA and the Evolution of Homo sapiens . Nucleic Acids and Molecular Biology, vol 18. Springer, Berlin, Heidelberg . https://doi.org/10.1007/3-540-31789-9_7

Download citation

Publish with us

Policies and ethics

Search

Navigation