Research Article
Full Access
Reconstructing the population history of Puerto Rico by means of mtDNA phylogeographic analysis
Juan C. Martínez-Cruzado,
Gladys Toro-Labrador,
Jorge Viera-Vera,
Michelle Y. Rivera-Vega,
Jennifer Startek,
Magda Latorre-Esteves,
Alicia Román-Colón,
Rebecca Rivera-Torres,
Iris Y. Navarro-Millán,
Enid Gómez-Sánchez,
Héctor Y. Caro-González,
Patricia Valencia-Rivera,
Corresponding Author
Juan C. Martínez-Cruzado
Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico 00680
Department of Biology, University of Puerto Rico at Mayagüez, PO Box 9012, Mayagüez, PR 00681-9012Search for more papers by this authorGladys Toro-Labrador
Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico 00680
Search for more papers by this authorJorge Viera-Vera
Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico 00680
Search for more papers by this authorMichelle Y. Rivera-Vega
Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico 00680
Escuela de Medicina, Universidad Autónoma de Guadalajara, Guadalajara, Jalisco CP45110, Mexico
Search for more papers by this authorJennifer Startek
Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico 00680
Search for more papers by this authorMagda Latorre-Esteves
Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico 00680
Department of Pathology, Harvard Medical School, Harvard University, Boston, Massachusetts 02115
Search for more papers by this authorAlicia Román-Colón
Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico 00680
Medical Sciences Campus, University of Puerto Rico, San Juan, Puerto Rico 00936
Search for more papers by this authorRebecca Rivera-Torres
Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico 00680
Department of Comparative Pathology, University of California at Davis, Davis, California 95616
Search for more papers by this authorIris Y. Navarro-Millán
Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico 00680
Escuela de Medicina, Universidad Autónoma de Guadalajara, Guadalajara, Jalisco CP45110, Mexico
Search for more papers by this authorEnid Gómez-Sánchez
Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico 00680
Search for more papers by this authorHéctor Y. Caro-González
Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico 00680
Department of Biological Sciences, Stanford University, Stanford, California 94305
Search for more papers by this authorPatricia Valencia-Rivera
Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico 00680
Department of Cell Biology, Harvard Medical School, Harvard University, Boston, Massachusetts 02115
Search for more papers by this authorJuan C. Martínez-Cruzado,
Gladys Toro-Labrador,
Jorge Viera-Vera,
Michelle Y. Rivera-Vega,
Jennifer Startek,
Magda Latorre-Esteves,
Alicia Román-Colón,
Rebecca Rivera-Torres,
Iris Y. Navarro-Millán,
Enid Gómez-Sánchez,
Héctor Y. Caro-González,
Patricia Valencia-Rivera,
Corresponding Author
Juan C. Martínez-Cruzado
Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico 00680
Department of Biology, University of Puerto Rico at Mayagüez, PO Box 9012, Mayagüez, PR 00681-9012Search for more papers by this authorGladys Toro-Labrador
Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico 00680
Search for more papers by this authorJorge Viera-Vera
Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico 00680
Search for more papers by this authorMichelle Y. Rivera-Vega
Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico 00680
Escuela de Medicina, Universidad Autónoma de Guadalajara, Guadalajara, Jalisco CP45110, Mexico
Search for more papers by this authorJennifer Startek
Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico 00680
Search for more papers by this authorMagda Latorre-Esteves
Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico 00680
Department of Pathology, Harvard Medical School, Harvard University, Boston, Massachusetts 02115
Search for more papers by this authorAlicia Román-Colón
Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico 00680
Medical Sciences Campus, University of Puerto Rico, San Juan, Puerto Rico 00936
Search for more papers by this authorRebecca Rivera-Torres
Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico 00680
Department of Comparative Pathology, University of California at Davis, Davis, California 95616
Search for more papers by this authorIris Y. Navarro-Millán
Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico 00680
Escuela de Medicina, Universidad Autónoma de Guadalajara, Guadalajara, Jalisco CP45110, Mexico
Search for more papers by this authorEnid Gómez-Sánchez
Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico 00680
Search for more papers by this authorHéctor Y. Caro-González
Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico 00680
Department of Biological Sciences, Stanford University, Stanford, California 94305
Search for more papers by this authorPatricia Valencia-Rivera
Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico 00680
Department of Cell Biology, Harvard Medical School, Harvard University, Boston, Massachusetts 02115
Search for more papers by this authorAbstract
The haplogroup identities of 800 mtDNAs randomly and systematically selected to be representative of the population of Puerto Rico were determined by restriction fragment length polymorphism (RFLP), revealing maternal ancestries in this highly mixed population of 61.3% Amerindian, 27.2% sub-Saharan African, and 11.5% West Eurasian. West Eurasian frequencies were low in all 28 municipalities sampled, and displayed no geographic patterns. Thus, a statistically significant negative correlation was observed between the Amerindian and African frequencies of the municipalities. In addition, a statistically highly significant geographic pattern was observed for Amerindian and African mtDNAs. In a scenario in which Amerindian mtDNAs prevailed on either side of longitude 66°16′ West, Amerindian mtDNAs were more frequent west of longitude 66°16′ West than east of it, and the opposite was true for African mtDNAs. Haplogroup A had the highest frequency among Amerindian samples (52.4%), suggesting its predominance among the native Taínos. Principal component analysis showed that the sub-Saharan African fraction had a strong affinity to West Africans. In addition, the magnitudes of the Senegambian and Gulf of Guinea components in Puerto Rico were between those of Cape Verde and São Tomé. Furthermore, the West Eurasian component did not conform to European haplogroup frequencies. HVR-I sequences of haplogroup U samples revealed a strong North African influence among West Eurasian mtDNAs and a new sub-Saharan African clade. Am J Phys Anthropol 128:131-155, 2005. © 2005 Wiley-Liss, Inc.
LITERATURE CITED
- Abbad FI. 1959. Historia geográfica, civil y natural de la Isla de San Juan Bautista de Puerto Rico. San Juan, Puerto Rico: Ediciones de la Universidad de Puerto Rico.
- Alegr´a RE. 1985. Notas sobre la procedencia cultural de los esclavos negros de Puerto Rico durante la segunda mitad del siglo XVI. Rev Centro Estud Avanzados Puerto Rico Caribe 1: 58–79.
- Alegr´a M, McGuire T, Vera M, Canino G, Mat´as L, Calderón J. 2001. Changes in access to mental health care among the poor and nonpoor: results from the health care reform in Puerto Rico. Am J Public Health 91: 1431–1434.
- Álvarez-Nazario M. 1974. El elemento afronegroide en el español de Puerto Rico. San Juan, Puerto Rico: Instituto de Cultura Puertorriqueña.
- Alves-Silva J, da Silva Santos M, Guimarães PEM, Ferreira ACS, Bandelt HJ, Peña SDJ, Ferreira Prado V. 2000. The ancestry of Brazilian mtDNA lineages. Am J Hum Genet 67: 444–461.
- Anderson S, Bankier AT, Barrell BG, de Bruijn MHL, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJH, Staden R, Young IG. 1981. Sequence and organization of the human mitochondrial genome. Nature 290: 457–465.
- 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.
- Bailliet G, Rothhammer F, Carnese FR, Bravi CM, Bianchi NO. 1994. Founder mitochondrial haplotypes in Amerindian populations. Am J Hum Genet 54: 27–33.
- Ballinger SW, Schurr TG, Torroni A, Gan YY, Hodge JA, Hassan K, Chen KH, Wallace DC. 1992. Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient Mongoloid migrations. Genetics 130: 139–152.
- Bamshad M, Kivisild T, Watkins WS, Dixon ME, Ricker CE, Rao BB, Naidu JM, Prasad BVR, 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.
- Batista O, Kolman CJ, Bermingham E. 1995. Mitochondrial DNA diversity in the Kuna Amerinds of Panamá. Hum Mol Genet 4: 921–929.
-
Batista dos Santos SE,
Rodrigues JD,
Ribeiro dos Santos AKC,
Zago MA.
1999.
Differential contribution of indigenous men and women to the formation of an urban population in the Amazon region as revealed by mtDNA and Y-DNA.
Am J Phys Anthropol
109:
175–180.
10.1002/(SICI)1096-8644(199906)109:2<175::AID-AJPA3>3.0.CO;2-# CAS PubMed Web of Science® Google Scholar
- Bert F, Corella A, Gené M, Pérez-Pérez A, Turbón D. 2001. Major mitochondrial DNA haplotype heterogeneity in highland and lowland Amerindian populations from Bolivia. Hum Biol 73: 1–16.
- Betty DJ, Chin-Atkins AN, Croft L, Sraml M, Easteal S. 1996. Multiple independent origins of the COII/tRNALys intergenic 9-bp mtDNA deletion in Aboriginal Australians. Am J Hum Genet 58: 428–433.
- Bortolini MC, Salzano FM, Bau CHD, Layrisse Z, Petzl-Erler ML, Tsuneto LT, Hill K, Hurtado AM, Castro-de-Guerra D, Bedoya G, Ruiz-Linares A. 2002. Y-chromosome biallelic polymorphisms and Native American population structure. Ann Hum Genet 66: 255–259.
- Bortolini MC, Salzano FM, Thomas MG, Stuart S, Nasanen SPK, Bau CHD, Hutz MH, Layrisse Z, Petzl-Erler ML, Tsuneto LT, Hill K, Hurtado AM, Castro-de-Guerra D, Torres MM, Groot H, Michalski R, Nymadawa P, Bedoya G, Bradman N, Labuda D, Ruiz-Linares A. 2003. Y-chromosome evidence for differing ancient demographic histories in the Americas. Am J Hum Genet 73: 524–539.
-
Bortolini MC,
Da Silva WA,
Zago MA,
Elion J,
Krishnamoorthy R,
Gonçalves VF,
Pena SOJ.
2004.
The phylogeography of mitochondrial DNA haplogroup L3g in Africa and the Atlantic slave trade.
Am J Hum Genet
75:
523–524.
10.1086/423823 Google Scholar
- 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.
- Brau S. 1904. Historia de Puerto Rico. New York: Appleton and Co.
- Brehm A, Pereira L, Bandelt HJ, Prata MJ, Amorim A. 2002. Mitochondrial portrait of the Cabo Verde archipelago: the Senegambian outpost of Atlantic slave trade. Ann Hum Genet 66: 49–60.
- Brown MD, Sun F, Wallace DC. 1997. Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am J Hum Genet 60: 381–387.
- Brown MD, Hosseini SH, Torroni A, Bandelt HJ, Allen JC, Schurr TG, Scozzari R, Cruciani F, Wallace DC. 1998. mtDNA haplogroup X: an ancient link between Europe/Western Asia and North America? Am J Hum Genet 63: 1852–1861.
- Carvajal-Carmona LG, Soto ID, Pineda N, Ortiz-Barrientos D, Duque C, Ospina-Duque J, McCarthy M, Montoya P, Álvarez VM, Bedoya G, Ruiz-Linares A. 2000. Strong Amerind/white sex bias and a possible Sephardic contribution among the founders of a population in Northwest Colombia. Am J Hum Genet 67: 1287–1295.
- Carvalho-Silva DR, Santos FR, Rocha J, Peña SDJ. 2001. The phylogeography of Brazilian Y-chromosome lineages. Am J Hum Genet 68: 281–286.
- 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.
- 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.
- Clark VJ, Sivendren S, Saha N, Bentley GR, Aunger R, Sirajuddin SM, Stoneking M. 2000. The 9-bp deletion between the mitochondrial lysine tRNA and COII genes in tribal populations of India. Hum Biol 72: 273–285.
- Colón HM, Robles RR, Canino G, Sahai H. 2001. Prevalence and correlates of DSM-IV substance use disorders in Puerto Rico. Bol Asoc Med P R 93: 12–22.
- Comas D, Calafell F, Mateu E, Pérez-Lezaun A, Bosch E, Mart´nez-Arias R, Clarimon J, Facchini F, Fiori G, Luiselli D, Pettener D, Bertranpetit J. 1998. Trading genes along the silk road: mtDNA sequences and the origin of Central Asian populations. Am J Hum Genet 63: 1824–1838.
- Côrte-Real HBSM, 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.
- 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.
- Demarchi DA, Panzetta-Dutari GM, Motran CC, López de Basualdo MA, Marcellino AJ. 2001. Mitochondrial DNA haplogroups in Amerindian populations from the Gran Chaco. Am J Phys Anthropol 115: 199–203.
- D´az-Soler LM. 2000. Historia de la esclavitud negra en Puerto Rico. San Juan, Puerto Rico: Editorial de la Universidad de Puerto Rico.
- Fernández-Cobo M, Jobes DV, Yanagihara R, Nerurkar VR, Yamamura Y, Ryschkewitsch CF, Stoner GL. 2001. Reconstructing population history using JC virus: Amerinds, Spanish, and Africans in the ancestry of modern Puerto Ricans. Hum Biol 73: 385–402.
- Fernández-Méndez E. 1970. Historia cultural de Puerto Rico. San Juan, Puerto Rico: Ediciones El Cem´.
- Fernández-Méndez E. 2000. Desarrollo histórico de la sociedad puertorriqueña. In: C Padilla-Rodríguez, editor. ?Qué somos? San Juan, Puerto Rico: Instituto de Cultura Puertorriqueña. p 51–80.
- Finnilä S, Hassinen IE, Ala-Kokko L, Majamaa K. 2000. Phylogenetic network of the mtDNA haplogroup U in northern Finland based on sequence analysis of the complete coding region by conformative-sensitive gel electrophoresis. Am J Hum Genet 66: 1017–1026.
- Finnilä S, Lehtonen MS, Majamaa K. 2001. Phylogenetic network for European mtDNA. Am J Hum Genet 68: 1475–1484.
- 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.
- Fuselli S, Tarazona-Santos E, Dupanloup I, Soto A, Luiselli D, Pettener D. 2003. Mitochondrial DNA diversity in South America and the genetic history of Andean highlanders. Mol Biol Evol 20: 1682–1691.
- Gelpí-Baíz E. 2000. Siglo en blanco. San Juan, Puerto Rico: Editorial de la Universidad de Puerto Rico.
- Ginther C, Corach D, Penacino GA, Rey JA, Carnese FR, Hutz MH, Anderson A, Just J, Salzano FM, King MC. 1993. Genetic variation among the Mapuche Indians from the Patagonian region of Argentina: mitochondrial DNA sequence variation and allele frequencies of several nuclear genes. In: SDJ Peña, R Chakraborty, JT Epplen, AJ Jeffreys, editors. DNA fingerprinting: state of the science. Basel: Birkhäuser Verlag. p 211–219.
- 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.
- Green LD, Derr JN, Knight A. 2000. mtDNA affinities of the peoples of north-central Mexico. Am J Hum Genet 66: 989–998.
- Hammer MF, Karafet TM, Redd AJ, Jarjanazi H, Santachiara-Benerecetti S, Soodyall H, Zegura SL. 2001. Hierarchical patterns of global human Y-chromosome diversity. Mol Biol Evol 18: 1189–1203.
- Hanis CL, Hewett-Emmett D, Bertin TK, Schull WJ. 1991. Origins of US Hispanics: implications for diabetes. Diabetes Care 14: 618–627.
- 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.
- Hofmann S, Jaksch M, Bezold R, Mertens S, Aholt S, Paprotta A, Gerbitz KD. 1997. Population genetics and disease susceptibility: characterization of Central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease. Hum Mol Genet 6: 1835–1846.
- Horai S, Kondo R, Nakagawa-Hattori Y, Hayashi S, Sonoda S, Tajima K. 1993. Peopling of the Americas, founded by four major lineages of mitochondrial DNA. Mol Biol Evol 10: 23–47.
- Howell N, Oostra RJ, Bolhuis PA, Spruijt L, Clarke LA, Mackey DA, Preston G, Herrnstadt C. 2003. Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 72: 1460–1469.
- 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.
- Hurles ME, Irven C, Nicholson J, Taylor PG, Santos FR, Loughlin J, Jobling MA, Sykes BC. 1998. European Y-chromosomal lineages in Polynesians: a contrast to the population structure revealed by mtDNA. Am J Hum Genet 63: 1793–1806.
- Hutchin T, Cortopassi G. 1995. A mitochondrial DNA clone is associated with increased risk for Alzheimer disease. Proc Natl Acad Sci USA 92: 6892–6895.
- Johns DR, Berman J. 1991. Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Biochem Biophys Res Commun 174: 1324–1330.
- Kaestle FA, Smith DG. 2001. Ancient mitochondrial DNA evidence for prehistoric population movement: the Numic expansion. Am J Phys Anthropol 115: 1–12.
- Karafet T, Xu L, Du R, Wang W, Feng S, Wells RS, Redd AJ, Zegura SL, Hammer MF. 2001. Paternal population history of East Asia: sources, patterns, and microevolutionary processes. Am J Hum Genet 69: 615–628.
- Kayser M, Brauer S, Weiss G, Schiefenhövel W, Underhill PA, Stoneking M. 2001. Independent histories of human Y chromosomes from Melanesia and Australia. Am J Hum Genet 68: 173–190.
- Keegan WF. 1997. “No man [or woman] is an island”: elements of Taíno social organization. In: SM Wilson, editor. The indigenous people of the Caribbean. Gainesville: University Press of Florida. p 111–117.
- Keyeux G, Rodas C, Gelvez N, Carter D. 2002. Possible migration routes into South America deduced from mitochondrial DNA studies in Colombian Amerindian populations. Hum Biol 74: 211–233.
- 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 lineages. Curr Biol 9: 1331–1334.
- Kivisild T, Tolk HV, Parik J, Wang Y, Papiha SS, Bandelt HJ, Villems R. 2002. The emerging limbs and twigs of the East Asian mtDNA tree. Mol Biol Evol 19: 1737–1751.
- Kolman CJ, Bermingham E. 1997. Mitochondrial and nuclear DNA diversity in the Chocó and Chibcha Amerinds of Panamá. Genetics 147: 1289–1302.
- Kolman CJ, Bermingham E, Cooke R, Ward RH, Arias TD, Guionneau-Sinclair F. 1995. Reduced mtDNA diversity in the Ngöbé Amerinds of Panamá. Genetics 140: 275–283.
- Kong QP, Yao YG, Sun C, Bandelt HJ, Zhu CL, Zhang YP. 2003. Phylogeny of East Asian mitochondrial DNA lineages inferred from complete sequences. Am J Hum Genet 73: 671–676.
- Krings M, Salem AH, 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.
- Lalueza-Fox C, Luna-Calderón F, Calafell F, Morera B, Bertranpetit J. 2001. MtDNA from extinct Taínos and the peopling of the Caribbean. Ann Hum Genet 65: 137–151.
- Lalueza-Fox C, Gilbert MTP, Martínez-Fuentes AJ, Calafell F, Bertranpetit J. 2003. Mitochondrial DNA from pre-Columbian Ciboneys from Cuba and the prehistoric colonization of the Caribbean. Am J Phys Anthropol 121: 97–108.
- Lamminen T, Huoponen K, Sistonen P, Juvonen V, Lahermo P, Aula P, Nikoskelainen E, Savontaus ML. 1997. mtDNA haplotype analysis in Finnish families with Leber hereditary optic neuropathy. Eur J Hum Genet 5: 271–279.
- Lell JT, Sukernik RI, Starikovskaya YB, Su B, Jin L, Schurr TG, Underhill PA, Wallace DC. 2002. The dual origin and Siberian affinities of Native American Y chromosomes. Am J Hum Genet 70: 192–206.
-
Lorenz JG,
Smith DG.
1996.
Distribution of four founding mtDNA haplogroups among Native North Americans.
Am J Phys Anthropol
101:
307–323.
10.1002/(SICI)1096-8644(199611)101:3<307::AID-AJPA1>3.0.CO;2-W CAS PubMed Web of Science® Google Scholar
- Maca-Meyer N, González AM, Larruga JM, Flores C, Cabrera VM. 2001. Major genomic mitochondrial lineages delineate early human expansions. BMC Genet 2: 13.
- Macaulay V, Richards M, 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.
- Malaspina P, Tsopanomichalou M, Duman T, Stefan M, Silvestri A, Rinaldi B, García O, Giparaki M, Plata E, Kozlov AI, Barbujani G, Vernesi C, Papola F, Ciavarella G, Kovatchev D, Kerimova MG, Anagnou N, Gavrila L, Veneziano L, Akar N, Loutradis A, Michalodimitrakis EN, Terrenato L, Novelletto A. 2001. A multistep process for the dispersal of a Y chromosomal lineage in the Mediterranean area. Ann Hum Genet 65: 339–349.
- Malhi RS, Schultz BA, Smith DG. 2001. Distribution of mitochondrial DNA lineages among Native American tribes of northeastern North America. Hum Biol 73: 17–55.
- Malhi RS, Mortensen HM, Eshleman JA, Kemp BM, Lorenz JG, Kaestle FA, Johnson JR, Gorodezky C, Smith DG. 2003. Native American mtDNA prehistory in the American Southwest. Am J Phys Anthropol 120: 108–124.
- Malyarchuk BA, Grzybowski T, Derenko MV, Czarny J, Woźniak M, Miścicka-Śliwka D. 2002. Mitochondrial DNA variability in Poles and Russians. Ann Hum Genet 66: 261–283.
- Martínez-Cruzado JC, Toro-Labrador G, Ho-Fung V, Estévez-Montero M, Lobaina-Manzanet A, Padovani-Claudio DA, Sánchez-Cruz H, Ortiz-Bermúdez P, Sánchez-Crespo A. 2001. Mitochondrial DNA analysis reveals substantial Native American ancestry in Puerto Rico. Hum Biol 73: 491–511.
- Mateu E, Comas D, Calafell F, Pérez-Lezaun A, Abade A, Bertranpetit J. 1997. A tale of two islands: population history and mitochondrial DNA sequence variation of Bioko and São Tomé, Gulf of Guinea. Ann Hum Genet 61: 507–518.
- Merriwether DA, Ferrell RE. 1996. The four founding lineage hypothesis for the New World: a critical reevaluation. Mol Phylogenet Evol 5: 241–246.
- Merriwether DA, Rothhammer F, Ferrell RE. 1995. Distribution of the four founding lineage haplotypes in Native Americans suggests a single wave of migration for the New World. Am J Phys Anthropol 98: 411–430.
- Mesa NR, Mondragón MC, Soto ID, Parra MV, Duque C, Ortiz-Barrientos D, García LF, Vélez ID, Bravo ML, Múnera JG, Bedoya G, Bortolini MC, Ruiz-Linares A. 2000. Autosomal, mtDNA, and Y-chromosome diversity in Amerinds: pre- and post-Columbian patterns of gene flow in South America. Am J Hum Genet 67: 1277–1286.
- 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.
- Moraga ML, Rocco P, Miquel JF, Nervi F, Llop E, Chakraborty R, Rothhammer F, Carvallo P. 2000. Mitochondrial DNA polymorphisms in Chilean aboriginal populations: implications for the peopling of the southern cone of the continent. Am J Phys Anthropol 113: 19–29.
- Negrón-Portillo M, Mayo-Santana R. 1992. La esclavitud urbana en San Juan de Puerto Rico: estudio del registro de esclavos de 1872. Río Piedras, Puerto Rico: Ediciones Huracán.
- Nooyen RH. 1965. Millefiori di Aruba. Aruba: Stitching Aruba Nostra.
- Oota H, Kitano T, Jin F, Yuasa I, Wang L, Shintaroh U, Saitou N, Stoneking M. 2002. Extreme mtDNA homogeneity in continental Asian populations. Am J Phys Anthropol 118: 146–153.
- O'Rourke DH, Hayes MG, Carlyle SW. 2000. Spatial and temporal stability of mtDNA haplogroup frequencies in native North America. Hum Biol 72: 15–34.
- Pereira L, Gusmão L, Alves C, Amorim A, Prata MJ. 2002. Bantu and European Y-lineages in sub-Saharan Africa. Ann Hum Genet 66: 369–378.
- Pinto F, González AM, Hernández M, Larruga JM, Cabrera VM. 1996. Genetic relationship between the Canary Islanders and their African and Spanish ancestors inferred from mitochondrial DNA sequences. Ann Hum Genet 60: 321–330.
- Quintana-Murci L, Semino O, Bandelt HJ, Passarino G, McElreavey K, Santachiara-Benerecetti S. 1999. Genetic evidence of an early exit of Homo sapiens sapiens from Africa through eastern Africa. Nat Genet 23: 437–441.
- Rando JC, Pinto F, González AM, Hernández 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.
- Rando JC, Cabrera VM, Larruga JM, Hernández M, González AM, Pinto F, Bandelt HJ. 1999. Phylogeographic patterns of mtDNA reflecting the colonization of the Canary Islands. Ann Hum Genet 63: 413–428.
- Reidla M, Kivisild T, Metspalu E, Kaldma K, Tambets K, Tolk HV, Parik J, Loogväli EL, 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 JP, 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.
- 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 AS, Scozzari R, Torroni A, Bandelt HJ. 2000. Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet 67: 1251–1276.
- Richards M, Macaulay V, Torroni A, Bandelt HJ. 2002. In search of geographical patterns in European mitochondrial DNA. Am J Hum Genet 71: 1168–1174.
- Rickards O, Martínez-Labarga C, Lum JK, De Stefano GF, Cann RL. 1999. mtDNA history of the Cayapa Amerinds of Ecuador: detection of additional founding lineages for the Native American populations. Am J Hum Genet 65: 519–530.
- Rodas C, Gelvez N, Keyeux G. 2003. Mitochondrial DNA studies show asymmetrical Amerindian admixture in Afro-Colombian and mestizo populations. Hum Biol 75: 13–30.
- Rosser ZH, Zerjal T, Hurles ME, Adojaan M, Alavantic D, Amorim A, Amos W, Armenteros M, Arroyo E, Barbujani G, Beckman G, Beckman L, Bertranpetit J, Bosch E, Bradley D, Brede G, Cooper G, Côrte-Real HBSM, de Knijff P, Decorte R, Dubrova YE, Evgrafov O, Gilissen A, Glisic S, Gölge M, Hill EW, Jeziorowska A, Kalaydjieva L, Kayser M, Kivisild T, Kravchenko SA, Krumina A, Kučinskas V, Lavinha J, Livshits LA, Malaspina P, Maria S, McElreavey K, Meitinger TA, Mikelsaar AV, Mitchell RJ, Nafa K, Nicholson J, Nørby S, Pandya A, Parik J, Patsalis PC, Pereira L, Peterlin B, Pielberg G, Prata MJ, Previderé C, Roewer L, Rootsi S, Rubinsztein DC, Saillard J, Santos FR, Stefanescu G, Sykes BC, Tolun A, Villems R, Tyler-Smith C, Jobling MA. 2000. Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language. Am J Hum Genet 67: 1526–1543.
- Rouse I. 1992. The Taínos: rise and decline of the people who greeted Columbus. New Haven: Yale University Press.
- Ruiz-Pesini E, Lapeña AC, Diez-Sánchez C, Pérez-Martos A, Montoya J, Álvarez 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.
- Salas A, Richards M, De la Fe T, Lareu MV, Sobrino B, Sánchez-Diz P, Macaulay V, Carracedo A. 2002. The making of the African mtDNA landscape. Am J Hum Genet 71: 1082–1111.
- Salas A, Torroni A, Richards M, Quintana-Murci L, Hill C, Macaulay V, Carracedo A. 2004a. Reply to Bertolini et al. Am J Hum Genet 75: 524–526.
- Salas A, Richards M, Lareu MV, Scozzari R, Coppa A, Torroni A, Macaulay V, Carracedo A. 2004b. The African diaspora: mitochondrial DNA and the Atlantic slave trade. Am J Hum Genet 74: 454–465.
- Sánchez-Crespo A. 1999. Variación genética en una población indígena en Puerto Rico. M.Sc. thesis. Mayagüez, Puerto Rico: University of Puerto Rico.
- Sanger JP, Gannett H, Wilcox WF. 1900. 1899 census report of Puerto Rico. Washington, DC: Government Printing Office.
- Santos M, Ward RH, Barrantes R. 1994. mtDNA variation in the Chibcha Amerindian Huetar from Costa Rica. Hum Biol 66: 963–977.
- Schurr TG, Wallace DC. 2002. Mitochondrial DNA diversity in Southeast Asian populations. Hum Biol 74: 431–452.
- 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.
- Semino O, Santachiara-Benerecetti AS, 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.
- Silva WA, Bonatto SL, Holanda AJ, Ribeiro-dos-Santos AK, Paixao BM, Goldman GH, Abe-Sandes K, Rodriguez-Delfin L, Barbosa M, Pacó-Larson ML, Petzl-Erler ML, Valente V, Santos SEB, Zago MA. 2002. Mitochondrial genome diversity of Native Americans supports a single early entry of founder populations into America. Am J Hum Genet 71: 187–192.
- 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.
- Starikovskaya YB, Sukernik RI, Schurr TG, Kogelnik AM, Wallace DC. 1998. mtDNA diversity in Chukchi and Siberian Eskimos: implications for the genetic history of ancient Beringia and the peopling of the New World. Am J Hum Genet 63: 1473–1491.
- Sued-Badillo J. 1995. The theme of the indigenous in the national projects of the Hispanic Caribbean. In: PR Schmidt, TC Patterson, editors. Making alternative histories: the practice of archaeology and history in non-Western settings. Santa Fe, NM: School of American Research Press. p 25–46.
- Tajima F. 1989. Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics 123: 585–595.
- Tapia A. 1945. Biblioteca histórica de Puerto Rico. San Juan, Puerto Rico: Instituto de Literatura Puertorriqueña.
- Thomas H. 1997. The slave trade: the story of the Atlantic slave trade: 1440–1870. New York: Simon & Schuster.
- Tomás G, Seco L, Seixas S, Faustino P, Lavinha J, Rocha J. 2002. The peopling of São Tomé (Gulf of Guinea): origins of slave settlers and admixture with the Portuguese. Hum Biol 74: 397–411.
- Toro-Labrador G, Wever OR, Martínez-Cruzado JC. 2003. Mitochondrial DNA analysis in Aruba: strong maternal ancestry of closely related Amerindians and implications for the peopling of northwestern Venezuela. Carib J Sci 39: 11–22.
- Torroni A, Schurr TG, Yang CC, 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.
- Torroni A, Schurr TG, Cabell MF, Brown MD, Neel JV, Larsen M, Smith DG, Vullo CM, Wallace DC. 1993a. Asian affinities and continental radiation of the four founding Native American mtDNAs. Am J Hum Genet 53: 563–590.
- Torroni A, Sukernik RI, Schurr TG, Starikovskaya YB, Cabell MF, Crawford MH, Comuzzie AG, Wallace DC. 1993b. mtDNA variation of aboriginal Siberians reveals distinct genetic affinities with Native Americans. Am J Hum Genet 53: 591–608.
- Torroni A, Chen YS, Semino O, Santachiara-Benerecetti AS, Scott CR, Lott MT, Winter M, Wallace DC. 1994a. mtDNA and Y-chromosome polymorphisms in four Native American populations from Southern Mexico. Am J Hum Genet 54: 303–318.
- Torroni A, Lott MT, Cabell MF, Chen YS, Lavergne L, Wallace DC. 1994b. mtDNA 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.
- Torroni A, Miller JA, Moore LG, Zamudio S, Zhuang J, Droma T, Wallace DC. 1994c. 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.
- Torroni A, Neel JV, Barrantes R, Schurr TG, Wallace DC. 1994d. Mitochondrial DNA “clock” for the Amerinds with its implications for timing their entry into North America. Proc Natl Acad Sci USA 91: 1158–1162.
- 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.
- 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 analysis 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.
- Torroni A, Bandelt HJ, Macaulay V, Richards M, Cruciani F, Rengo C, Martínez-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, Koivumäki S, Sykes B, Hickey E, Novelletto A, Moral P, Sellitto D, Coppa A, Al-Zaheri N, Santachiara-Benerecetti AS, Semino O, Scozzari R. 2001a. A signal, from human mtDNA, of postglacial recolonization in Europe. Am J Hum Genet 69: 844–852.
- Torroni A, Rengo C, Guida V, Cruciani F, Sellitto D, Coppa A, Luna-Calderón F, 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.
- Underhill PA, Passarino G, Lin AA, Shen P, Lahr MM, Foley RA, Oefner PJ, Cavalli-Sforza LL. 2001. The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations. Ann Hum Genet 65: 43–62.
- van der Walt JM, Nicodemus KK, Martin ER, Scott WK, Nance MA, Watts RL, Hubble JP, Haines JL, Koller WC, Lyons K, Pahwa R, Stern MB, Colcher A, Hiner BC, Jankovic J, Ondo WG, Allen FH Jr, Goetz CG, Small GW, Mastaglia F, Stajich JM, McLaurin AC, Middleton LT, Scott BL, Schmechel DE, Pericak-Vance MA, Vance JM. 2003. Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am J Hum Genet 72: 804–811.
- Veloz-Maggiolo M. 1991. Panorama histórico del Caribe precolombino. Santo Domingo, Dominican Republic: Banco Central de la República Dominicana.
-
Ward RH,
Salzano FM,
Bonatto SL,
Hutz MH,
Coimbra CEA Jr,
Santos RV.
1996.
Mitochondrial DNA polymorphism in three Brazilian Indian tribes.
Am J Hum Biol
8:
317–323.
10.1002/(SICI)1520-6300(1996)8:3<317::AID-AJHB2>3.0.CO;2-X CAS PubMed Web of Science® Google Scholar
-
Watkins WS,
Bamshad M,
Dixon ME,
Bhaskara R,
Naidu JM,
Reddy PG,
Prasad BVR,
Das PK,
Reddy PC,
Gai PB,
Bhanu A,
Kusuma YS,
Lum JK,
Fischer P,
Jorde LB.
1999.
Multiple origins of the mtDNA 9-bp deletion in populations of South India.
Am J Phys Anthropol
109:
147–158.
10.1002/(SICI)1096-8644(199906)109:2<147::AID-AJPA1>3.0.CO;2-C CAS PubMed Web of Science® Google Scholar
- Watson E, Forster P, Richards M, Bandelt HJ. 1997. Mitochondrial footprints of human expansions in Africa. Am J Hum Genet 61: 691–704.
- Weiss DA, Smith DG. 2003. Unexpected patterns of mitochondrial DNA variation among Native Americans from the southeastern United States. Am J Phys Anthropol 122: 336–354.
- Wrischnik L, Higuchi RG, Stoneking M, Erlich HA, Arnhelm N, Wilson AC. 1987. Length mutations in human mitochondrial DNA: direct sequencing of enzymatically amplified DNA. Nucl Acids Res 15: 529–542.
- Yao YG, Kong QP, Bandelt HJ, Kivisild T, Zhang YP. 2002a. Phylogeographic differentiation of mitochondrial DNA in Han Chinese. Am J Hum Genet 70: 635–651.
- Yao YG, Nie L, Harpending H, Fu YX, Yuan ZG, Zhang YP. 2002b. Genetic relationship of Chinese ethnic populations revealed by mtDNA sequence diversity. Am J Phys Anthropol 118: 63–76.
- Zavala S. 1948. Estudios indianos. Mexico City: Publicaciones del Colegio de México.
- Zegura SL, Karafet TM, Zhivotovsky LA, Hammer MF. 2004. High-resolution SNPs and microsatellite haplotypes point to a single, recent entry of Native American Y chromosomes into the Americas. Mol Biol Evol 21: 164–175.
- Zerjal T, Wells RS, Yuldasheva N, Ruzibakiev R, Tyler-Smith C. 2002. A genetic landscape reshaped by recent events: Y-chromosomal insights into Central Asia. Am J Hum Genet 71: 466–482.
- Zerjal T, Xue Y, Bertorelle G, Wells RS, Bao W, Zhu S, Qamar R, Ayub Q, Mohyuddin A, Fu S, Li P, Yuldasheva N, Ruzibakiev R, Xu J, Shu Q, Du R, Yang H, Hurles ME, Robinson E, Gerelsaikhan T, Dashnyam B, Mehdi SQ, Tyler-Smith C. 2003. The genetic legacy of Mongols. Am J Hum Genet 72: 717–721.
