Research Article
Reconstructing the population history of Puerto Rico by means of mtDNA phylogeographic analysis
Abstract
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.
Citing Literature
Number of times cited: 45
- M. Katherine Spradley and Kyra E. Stull, Advancements in Sex and Ancestry Estimation, New Perspectives in Forensic Human Skeletal Identification, 10.1016/B978-0-12-805429-1.00003-X, (13-21), (2018).
- Steven E. Massey, Strong Amerindian Mitonuclear Discordance in Puerto Rican Genomes Suggests Amerindian Mitochondrial Benefit, Annals of Human Genetics, 81, 2, (59-77), (2017).
- Antonio Castanha, Caribbean Indigenous Cultures, The Encyclopedia of Postcolonial Studies, (1-8), (2016).
- Jorge Duconge, Alga S. Ramos, Karla Claudio-Campos, Giselle Rivera-Miranda, Luis Bermúdez-Bosch, Jessicca Y. Renta, Carmen L. Cadilla, Iadelisse Cruz, Juan F. Feliu, Cunegundo Vergara, Gualberto Ruaño and Min-Han Tan, A Novel Admixture-Based Pharmacogenetic Approach to Refine Warfarin Dosing in Caribbean Hispanics, PLOS ONE, 11, 1, (e0145480), (2016).
- Jada Benn Torres, Genetic Anthropology and Archaeology: Interdisciplinary Approaches to Human History in the Caribbean, PaleoAmerica, 2, 1, (1), (2016).
- Theodore G. Schurr, Jada Benn Torres, Miguel G. Vilar, Jill B. Gaieski and Carlalynne Melendez, An emerging history of indigenous Caribbean and circum‐Caribbean populations: insights from archaeological, ethnographic, genetic, and historical studies, New Directions in Biocultural Anthropology, (385-402), (2016).
- Mónica Sans, Pablo Mones, Gonzalo Figueiro, Isabel Barreto, Josefina M.B. Motti, Michael D. Coble, Claudio M. Bravi and Pedro C. Hidalgo, The mitochondrial DNA history of a former native American village in northern Uruguay, American Journal of Human Biology, 27, 3, (407-416), (2014).
- Carolina Bonilla, Bernardo Bertoni, Pedro C Hidalgo, Nora Artagaveytia, Elizabeth Ackermann, Isabel Barreto, Paula Cancela, Mónica Cappetta, Ana Egaña, Gonzalo Figueiro, Silvina Heinzen, Stanley Hooker, Estela Román, Mónica Sans and Rick A Kittles, Breast cancer risk and genetic ancestry: a case–control study in Uruguay, BMC Women's Health, 15, 1, (2015).
- Samiah A. Al‐Zaidy, Vinod Malik, Kelley Kneile, Xiomara Q. Rosales, Ana Maria Gomez, Sarah Lewis, Sayaka Hashimoto, Julie Gastier‐Foster, Peter Kang, Basil Darras, Louis Kunkel, Jose Carlo, Zarife Sahenk, Steven A. Moore, Robert Pyatt and Jerry R. Mendell, A slowly progressive form of limb‐girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics, Molecular Genetics & Genomic Medicine, 3, 2, (92-98), (2015).
- Marcia Cruz-Correa, Yaritza Diaz-Algorri, Julyann Pérez-Mayoral, Wasilah Suleiman-Suleiman, Maria del Mar Gonzalez-Pons, Carlos Bertrán, Nicolás Casellas, Natalia Rodríguez, Sherly Pardo, Keyla Rivera, Rafael Mosquera and Segundo Rodriguez-Quilichini, Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch syndrome, Familial Cancer, 10.1007/s10689-015-9795-y, 14, 3, (415-425), (2015).
- Miguel G. Vilar, Carlalynne Melendez, Akiva B. Sanders, Akshay Walia, Jill B. Gaieski, Amanda C. Owings and Theodore G. Schurr, Genetic diversity in Puerto Rico and its implications for the peopling of the Island and the West Indies, American Journal of Physical Anthropology, 155, 3, (352-368), (2014).
- Jada Benn Torres, Prospecting the past: genetic perspectives on the extinction and survival of indigenous peoples of the Caribbean, New Genetics and Society, 10.1080/14636778.2013.873245, 33, 1, (21-41), (2014).
- F. Mendisco, M. H. Pemonge, E. Leblay, T. Romon, G. Richard, P. Courtaud and M. F. Deguilloux, Where are the Caribs? Ancient DNA from ceramic period human remains in the Lesser Antilles, Philosophical Transactions of the Royal Society B: Biological Sciences, 370, 1660, (20130388), (2014).
- Jada Benn Torres, Anne C. Stone and Rick Kittles, An anthropological genetic perspective on creolization in the anglophone caribbean, American Journal of Physical Anthropology, 151, 1, (135-143), (2013).
- PETER WADE, Blackness, Indigeneity, Multiculturalism and Genomics in Brazil, Colombia and Mexico, Journal of Latin American Studies, 45, 02, (205), (2013).
- Andrés Moreno-Estrada, Simon Gravel, Fouad Zakharia, Jacob L. McCauley, Jake K. Byrnes, Christopher R. Gignoux, Patricia A. Ortiz-Tello, Ricardo J. Martínez, Dale J. Hedges, Richard W. Morris, Celeste Eng, Karla Sandoval, Suehelay Acevedo-Acevedo, Paul J. Norman, Zulay Layrisse, Peter Parham, Juan Carlos Martínez-Cruzado, Esteban González Burchard, Michael L. Cuccaro, Eden R. Martin, Carlos D. Bustamante and Eduardo Tarazona-Santos, Reconstructing the Population Genetic History of the Caribbean, PLoS Genetics, 9, 11, (e1003925), (2013).
- G. Gourjon, Les enjeux anthropologiques du mélange génétiqueAnthropological issues in genetic admixture, Bulletins et mémoires de la Société d'anthropologie de Paris, 10.1007/s13219-012-0071-5, 25, 1-2, (65-82), (2012).
- M. Leigh Anne Daniels, Margaret W. Leigh, Stephanie D. Davis, Michael C. Armstrong, Johnny L. Carson, Milan Hazucha, Sharon D. Dell, Maria Eriksson, Francis S. Collins, Michael R. Knowles and Maimoona A. Zariwala, Founder Mutation in RSPH4A Identified in Patients of Hispanic Descent with Primary Ciliary Dyskinesia, Human Mutation, 34, 10, (1352-1356), (2013).
- Bogdan Pasaniuc, Sriram Sankararaman, Dara G. Torgerson, Christopher Gignoux, Noah Zaitlen, Celeste Eng, William Rodriguez-Cintron, Rocio Chapela, Jean G. Ford, Pedro C. Avila, Jose Rodriguez-Santana, Gary K. Chen, Loic Le Marchand, Brian Henderson, David Reich, Christopher A. Haiman, Esteban Gonzàlez Burchard and Eran Halperin, Analysis of Latino populations from GALA and MEC studies reveals genomic loci with biased local ancestry estimation, Bioinformatics, 29, 11, (1407), (2013).
- Julie Dutil, Jose L. Colon-Colon, Jaime L. Matta, Rebecca Sutphen and Miguel Echenique, Identification of the prevalent BRCA1 and BRCA2 mutations in the female population of Puerto Rico, Cancer Genetics, 205, 5, (242), (2012).
- Tanya M. Simms, Marisil R. Wright, Michelle Hernandez, Omar A. Perez, Evelyn C. Ramirez, Emanuel Martinez and Rene J. Herrera, Y‐chromosomal diversity in Haiti and Jamaica: Contrasting levels of sex‐biased gene flow, American Journal of Physical Anthropology, 148, 4, (618-631), (2012).
- Monica Sans, Gonzalo Figueiro and Pedro C. Hidalgo, A New Mitochondrial C1 Lineage from the Prehistory of Uruguay: Population Genocide, Ethnocide, and Continuity, Human Biology, 84, 3, (287), (2012).
- Tony Castanha, Jíbaro Resistance and Continuity, The Myth of Indigenous Caribbean Extinction, 10.1057/9780230116405_4, (67-88), (2011).
- M. Sans, G. Figueiro, E. Ackermann, I. Barreto, A. Egaña, B. Bertoni, E. Poittevin-Gilmet, D. Maytia and P. C. Hidalgo, Mitochondrial DNA in Basque Descendants from the City of Trinidad, Uruguay: Uruguayan- or Basque-like Population?, Human Biology, 10.3378/027.083.0104, 83, 1, (55-70), (2011).
- Tony Castanha, Early Resistance and Survival in Borikén, The Myth of Indigenous Caribbean Extinction, 10.1057/9780230116405_3, (51-66), (2011).
- Jill B. Gaieski, Amanda C. Owings, Miguel G. Vilar, Matthew C. Dulik, David F. Gaieski, Rachel M. Gittelman, John Lindo, Lydia Gau and Theodore G. Schurr, Genetic ancestry and indigenous heritage in a Native American Descendant Community in Bermuda, American Journal of Physical Anthropology, 146, 3, (392-405), (2011).
- Tanya M. Simms, Emanuel Martinez, Kristian J. Herrera, Marisil R. Wright, Omar A. Perez, Michelle Hernandez, Evelyn C. Ramirez, Quinn McCartney and Rene J. Herrera, Paternal lineages signal distinct genetic contributions from British Loyalists and continental Africans among different Bahamian islands, American Journal of Physical Anthropology, 146, 4, (594-608), (2011).
- Klara Stefflova, Matthew C. Dulik, Jill S. Barnholtz-Sloan, Athma A. Pai, Amy H. Walker, Timothy R. Rebbeck and Michael Knapp, Dissecting the Within-Africa Ancestry of Populations of African Descent in the Americas, PLoS ONE, 6, 1, (e14495), (2011).
- Marc Via, Christopher R. Gignoux, Lindsey A. Roth, Laura Fejerman, Joshua Galanter, Shweta Choudhry, Gladys Toro-Labrador, Jorge Viera-Vera, Taras K. Oleksyk, Kenneth Beckman, Elad Ziv, Neil Risch, Esteban González Burchard, Juan Carlos Martínez-Cruzado and John Relethford, History Shaped the Geographic Distribution of Genomic Admixture on the Island of Puerto Rico, PLoS ONE, 6, 1, (e16513), (2011).
- David Villagra, Jorge Duconge, Andreas Windemuth, Carmen L. Cadilla, Mohan Kocherla, Krystyna Gorowski, Kali Bogaard, Jessica Y. Renta, Irelys A. Cruz, Sara Mirabal, Richard L. Seip and Gualberto Ruaño, CYP2C9 and VKORC1 genotypes in Puerto Ricans: A case for admixture-matching in clinical pharmacogenetic studies, Clinica Chimica Acta, 411, 17-18, (1306), (2010).
- Maribel Torres-Serrant, Sonia I. Ramirez, Carmen L. Cadilla, Gilberto Ramos-Valencia and Pedro J. Santiago-Borrero, Newborn Screening for Hermansky-Pudlak Syndrome Type 3 in Puerto Rico, Journal of Pediatric Hematology/Oncology, 32, 6, (448), (2010).
- Tirtsa Porrata-Doria, Jaime L. Matta and Summer F. Acevedo, Apolipoprotein E Allelic Frequency Altered in Women with Early-onset Breast Cancer, Breast Cancer: Basic and Clinical Research, 4, (117822341000400), (2010).
- Sergey I. Zhadanov, Matthew C. Dulik, Michael Markley, George W. Jennings, Jill B. Gaieski, George Elias and Theodore G. Schurr, Genetic heritage and native identity of the Seaconke Wampanoag tribe of massachusetts, American Journal of Physical Anthropology, 142, 4, (579-589), (2010).
- Tanya M. Simms, Carol E. Rodriguez, Rosa Rodriguez and Rene J. Herrera, The genetic structure of populations from Haiti and Jamaica reflect divergent demographic histories, American Journal of Physical Anthropology, 142, 1, (49-66), (2009).
- Chao-Qiang Lai, Katherine L. Tucker, Shweta Choudhry, Laurence D. Parnell, Josiemer Mattei, Bibiana García-Bailo, Kenny Beckman, Esteban González Burchard and José M. Ordovás, Population admixture associated with disease prevalence in the Boston Puerto Rican health study, Human Genetics, 125, 2, (199), (2009).
- Gualberto Ruaño, Jorge Duconge, Andreas Windemuth, Carmen L Cadilla, Mohan Kocherla, David Villagra, Jessica Renta, Theodore Holford and Pedro J Santiago-Borrero, Physiogenomic analysis of the Puerto Rican population, Pharmacogenomics, 10.2217/pgs.09.5, 10, 4, (565-577), (2009).
- Irene López, Puerto Rican Phenotype, Hispanic Journal of Behavioral Sciences, 30, 2, (161), (2008).
- Gabriel Haslip‐Viera, The Taíno Identity Movement Among Caribbean Latinas/os in the United States, A Companion to Latina/o Studies, (417-426), (2017).
- M.E. Delgado-Burbano, Population affinities of African Colombians to Sub-Saharan Africans based on dental morphology, HOMO - Journal of Comparative Human Biology, 58, 4, (329), (2007).
- Loredana Castrì, Flory Otárola, Mwenza Blell, Ernesto Ruiz, Ramiro Barrantes, Donata Luiselli, Davide Pettener and Lorena Madrigal, Indentured migration and differential gender gene flow: The origin and evolution of the East‐Indian community of Limón, Costa Rica, American Journal of Physical Anthropology, 134, 2, (175-189), (2007).
- Raul A Montenegro and Carolyn Stephens, Indigenous health in Latin America and the Caribbean, The Lancet, 367, 9525, (1859), (2006).
- Theodore G Schurr, The Peopling of the Americas as Revealed by Molecular Genetic Studies, eLS, (2008).
- Peter Wade, References, Degrees of Mixture, Degrees of Freedom, 10.1215/9780822373070-013, (273-313), (2017).
- Jada Benn Torres, Miguel G. Vilar, Gabriel A. Torres, Jill B. Gaieski, Ricardo Bharath Hernandez, Zoila E. Browne, Marlon Stevenson, Wendell Walters, Theodore G. Schurr and Francesc Calafell, Genetic Diversity in the Lesser Antilles and Its Implications for the Settlement of the Caribbean Basin, PLOS ONE, 10.1371/journal.pone.0139192, 10, 10, (e0139192), (2015).
- Simon Gravel, Fouad Zakharia, Andres Moreno-Estrada, Jake K. Byrnes, Marina Muzzio, Juan L. Rodriguez-Flores, Eimear E. Kenny, Christopher R. Gignoux, Brian K. Maples, Wilfried Guiblet, Julie Dutil, Marc Via, Karla Sandoval, Gabriel Bedoya, Taras K. Oleksyk, Andres Ruiz-Linares, Esteban G. Burchard, Juan Carlos Martinez-Cruzado, Carlos D. Bustamante and Scott M. Williams, Reconstructing Native American Migrations from Whole-Genome and Whole-Exome Data, PLoS Genetics, 10.1371/journal.pgen.1004023, 9, 12, (e1004023), (2013).
