Blog author Rajiv McCoy is a graduate student in the lab of Dmitri Petrov.
In the Author Summary of their paper, “Reconstructing the Population Genetic History of the Caribbean”, Andrés Moreno-Estrada and colleagues point out that Latinos are often falsely depicted as a homogeneous ethnic or cultural group. In reality, however, Latinos, including inhabitants of the Caribbean basin, represent a diverse mixture of previously separate human populations, such as indigenous groups, European colonists, and West Africans brought over during the Atlantic slave trade. This mixing process, which geneticists call “admixture”, left a distinct footprint on genetic variation within and between Caribbean populations. By surveying genotypes of 330 Caribbean individuals and comparing to a database of variation from more than 3000 individuals from European, African, and Native American populations, Moreno et al., explore the genomic outcomes of this complex admixture process and reveal intriguing demographic patterns that could not be obtained from the historical record alone. The paper, featured in the latest edition of PLOS Genetics, represents a collaborative project with co-senior authorship by Stanford CEHG professor Carlos Bustamante and Professor Eden Martin from the University of Miami Miller School of Medicine.
Reconstructing the demographic history of admixed populations
Because parental DNA is only moderately shuffled before being incorporated into gametes (the process of meiotic recombination), admixture results in discrete genomic segments that can be traced to a particular ancestral population. In early generations after the onset of admixture, these segments are large. However, after many generations, segments will be quite small. By investigating the distribution of sizes of these ancestry “tracts”, Moreno and colleagues inferred the timing of various waves of migration and admixture. For Caribbean Island populations, they infer that European gene flow first occurred ~16-17 generations ago, which matches very closely to the historical record of ~500 years, assuming ~30 years per generation. In contrast, for neighboring mainland populations from Colombia and Honduras, they find that European gene flow occurred in waves, starting more recently (~14 generations ago).
Identifying sub-continental ancestry of admixed individuals
Those familiar with human population genetics will recognize principal component analysis (PCA), which transforms a matrix of correlated observed genotypes into a set of uncorrelated variables where the first component explains the most possible variance, the second variable explains the second most variance, and so on. Individuals’ transformed genotypes can be plotted on the first two principle components, and when performed on a worldwide scale, distinct clusters appear which represent populations of ancestry. On conventional PCA plots, admixed individuals fall between their different ancestral populations, as they possess sets of genotypes diagnostic of multiple ancestral groups. As virtually all Caribbean individuals are admixed to some degree, this pattern is apparent for Caribbean populations (see Figure 1B from the paper, reproduced below).
While interesting, this means that the sub-continental ancestry of these admixed individuals is difficult to ascertain. An individual may want to know which Native American, West African, and European populations contribute to his or her ancestry, and this analysis does not have sufficient resolution to answer these questions.
Moreno and colleagues therefore devised a new version of PCA called ancestry-specific PCA (ASPCA), which extracts genomic segments assigned to Native American, West African, and European ancestry, then analyzes these segments separately, dealing with the large proportions of missing data that result. In the case of Native American ASPCA, they observe two overlapping clusters. The first represents mostly Colombians and Hondurans, who cluster most closely with indigenous groups from Western Colombia and Central America and have a greater overall proportion of Native American ancestry. The second cluster represents mostly Cubans, Dominicans, and Puerto Ricans, who cluster most closely with Eastern Colombian and Amazonian indigenous groups. This makes sense in light of the fact that Amazonian populations from the Lower Orinoco Valley settled on rivers and streams, which could have facilitated their migration. Because indigenous ancestry proportions were relatively consistent and closely clustered across different Caribbean Islands, the authors posit that there was a single pulse of expansion of Amazonian natives across the Caribbean prior to European arrival, along with gene flow among the islands.
In the case of European ASPCA, Moreno et al. found that Caribbean samples clustered closest to, but clearly distinct from, present day individuals from the Iberian Peninsula in Southern Europe. In fact, the differentiation between this “Latino-specific component” and Southern Europe is at least as great as the differentiation between Northern and Southern Europe. The authors hypothesize that this is due to very small population sizes among European colonists, which would have introduced noise into patterns of genomic variation through the process of random genetic drift.
Finally, the authors demonstrate that Caribbean populations have a higher proportion of African ancestry compared to mainland American populations, a result of admixture during and after the Atlantic slave trade. Surprisingly, the authors found that all samples tightly clustered with present day Yoruba samples from Nigeria rather than being dispersed throughout West Africa. However, because other analyses suggested that there might have been two major waves of migration from West Africa, the authors decided to analyze “old” and “young” blocks of African ancestry separately. This analysis revealed that “older” segments are primarily derived from groups from the Senegambia region of Northwest Africa, while “younger” segments likely trace to groups from the Gulf of Guinea and Equatorial West Africa (including the Yoruba).
Conclusions and perspectives
This groundbreaking study has immediate implications for the field of personalized medicine, especially due to the discovery of a distinct Latino-specific component of European ancestry. The hypothesis that European colonists underwent a demographic bottleneck (a process termed the “founder effect”) has expected consequences for the frequency of damaging mutations contributing to genetic disease. The observation of extensive genetic differences among Caribbean populations also argues for more such studies characterizing genetic variation on a smaller geographic scale. The newly developed ASPCA method will surely be valuable for other admixed populations. In addition to medical implications, studies such as this help dispel simplistic notions of race and ethnicity and inform cultural identities based on unique and complex demographic history.
Citation: Moreno-Estrada A, Gravel S, Zakharia F, McCauley JL, Byrnes JK, et al. (2013) Reconstructing the Population Genetic History of the Caribbean. PLoS Genet 9(11): e1003925. doi:10.1371/journal.pgen.1003925
Paper author Andrés Moreno-Estrada is a research associate in the lab of Carlos Bustamante.