A mainly circum-mediterranean origin for west eurasian and north African mtdnas in puerto rico with strong contributions from the canary Islands and West Africa

Héctor J. Díaz-Zabala, Maria A. Nieves-Cólon, Juan C. Martínez-Cruzado

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Maternal lineages of West Eurasian and North African origin account for 11.5% of total mitochondrial ancestry in Puerto Rico. Historical sources suggest that this ancestry arrived mostly from European migrations that took place during the four centuries of the Spanish colonization of Puerto Rico. This study analyzed 101 mitochondrial control region sequences and diagnostic coding region variants from a sample set randomly and systematically selected using a census-based sampling frame to be representative of the Puerto Rican population, with the goal of defijining West Eurasian-North African maternal clades and estimating their possible geographical origin. Median-joining haplotype networks were constructed using hypervariable regions 1 and 2 sequences from various reference populations in search of shared haplotypes. A posterior probability analysis was performed to estimate the percentage of possible origins across wide geographic regions for the entire sample set and for the most common haplogroups on the island. Principal component analyses were conducted to place the Puerto Rican mtDNA set within the variation present among all reference populations. Our study shows that up to 38% of West Eurasian and North African mitochondrial ancestry in Puerto Rico most likely migrated from the Canary Islands. However, most of those haplotypes had previously migrated to the Canary Islands from elsewhere, and there are substantial contributions from various populations across the circum-Mediterranean region and from West African populations related to the modern Wolof and Serer peoples from Senegal and the nomad Fulani who extend up to Cameroon. In conclusion, the West Eurasian mitochondrial ancestry in Puerto Ricans is geographically diverse. However, haplotype diversity seems to be low, and frequencies have been shaped by population bottlenecks, migration waves, and random genetic drift. Consequently, approximately 47% of mtDNAs of West Eurasian and North African ancestry in Puerto Rico probably arrived early in its colonial history.

Original languageEnglish (US)
Pages (from-to)125-155
Number of pages31
JournalHuman Biology
Issue number2
StatePublished - Mar 1 2017
Externally publishedYes

Bibliographical note

Funding Information:
We thank the people who, after being randomly selected, received us at their homes and willingly participated in the study with informed consent. This study was supported by the National Science Foundation Physical Anthropology Program grant SBR-9904252 to JCMC and the Faculty of Arts and Sciences of the University of Puerto Rico at Mayagüez.

Publisher Copyright:
© 2018 Wayne State University Press.

Copyright 2018 Elsevier B.V., All rights reserved.


  • Canary Islands
  • Haplotype networks
  • Mitochondrial DNA
  • Posterior probability analysis
  • Principal component analysis
  • Puerto rican population
  • Tajima’s d test
  • West eurasian-North African-West African ancestry


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