Genetic diversity in Puerto Rico and its implications for the peopling of the Island and the West Indies

the Genographic Consortium, Miguel G. Vilar, Carlalynne Melendez, Akiva B. Sanders, Akshay Walia, Jill B. Gaieski, Amanda C. Owings, Theodore G. Schurr, Syama Adhikarla, Christina J. Adler, Elena Balanovska, Oleg Balanovsky, Jaume Bertranpetit, Andrew C. Clarke, David Comas, Alan Cooper, Clio S I Der Sarkissian, ArunKumar GaneshPrasad, Wolfgang Haak, Marc Haber & 27 others Angela Hobbs, Asif Javed, Li Jin, Matthew E. Kaplan, Shilin Li, Begoña Martínez-Cruz, Elizabeth A. Matisoo-Smith, Marta Melé, Nirav C. Merchant, R. John Mitchell, Laxmi Parida, Ramasamy Pitchappan, Daniel E. Platt, Lluis Quintana-Murci, Colin Renfrew, Daniela R. Lacerda, Ajay K. Royyuru, Fabrício R. Santos, Himla Soodyall, David F. Soria Hernanz, Pandikumar Swamikrishnan, Chris Tyler-Smith, Arun Varatharajan Santhakumari, Pedro Paulo Vieira, R. Spencer Wells, Pierre A. Zalloua, Janet S. Ziegle

Research output: Contribution to journalArticle

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Abstract

Puerto Rico and the surrounding islands rest on the eastern fringe of the Caribbean's Greater Antilles, located less than 100 miles northwest of the Lesser Antilles. Puerto Ricans are genetic descendants of pre-Columbian peoples, as well as peoples of European and African descent through 500 years of migration to the island. To infer these patterns of pre-Columbian and historic peopling of the Caribbean, we characterized genetic diversity in 326 individuals from the southeastern region of Puerto Rico and the island municipality of Vieques. We sequenced the mitochondrial DNA (mtDNA) control region of all of the samples and the complete mitogenomes of 12 of them to infer their putative place of origin. In addition, we genotyped 121 male samples for 25 Y-chromosome single nucleotide polymorphism and 17 STR loci. Approximately 60% of the participants had indigenous mtDNA haplotypes (mostly from haplogroups A2 and C1), while 25% had African and 15% European haplotypes. Three A2 sublineages were unique to the Greater Antilles, one of which was similar to Mesoamerican types, while C1b haplogroups showed links to South America, suggesting that people reached the island from the two distinct continental source areas. However, none of the male participants had indigenous Y-chromosomes, with 85% of them instead being European/Mediterranean and 15% sub-Saharan African in origin. West Eurasian Y-chromosome short tandem repeat haplotypes were quite diverse and showed similarities to those observed in southern Europe, North Africa and the Middle East. These results attest to the distinct, yet equally complex, pasts for the male and female ancestors of modern day Puerto Ricans.

LanguageEnglish (US)
Pages352-368
Number of pages17
JournalAmerican Journal of Physical Anthropology
Volume155
Issue number3
DOIs
StatePublished - Nov 1 2014

Fingerprint

West Indies
Puerto Rico
Caribbean Region
Islands
Y Chromosome
Haplotypes
Mitochondrial DNA
Hispanic Americans
varespladib methyl
Southern Europe
North Africa
Northern Africa
Middle East
municipality
South America
Microsatellite Repeats
migration
Single Nucleotide Polymorphism

Keywords

  • Caribbean
  • Haplogroup
  • Haplotype
  • Migration
  • mtDNA
  • Y-chromosome

ASJC Scopus subject areas

  • Anthropology
  • Anatomy
  • Medicine(all)

Cite this

Genetic diversity in Puerto Rico and its implications for the peopling of the Island and the West Indies. / the Genographic Consortium.

In: American Journal of Physical Anthropology, Vol. 155, No. 3, 01.11.2014, p. 352-368.

Research output: Contribution to journalArticle

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AU - Walia,Akshay

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