Continent-wide decoupling of Y-chromosomal genetic variation from language and geography in native South Americans

LUTZ ROEWER; MICHAEL NOTHNAGEL; LEONOR GUSMA?O; VERONICA GOMES; MIGUEL GONZA´ LEZ; DANIEL CORACH; ANDREA SALA; EVGUENIA ALECHINE

PLOS GENETICS

PUBLIC LIBRARY SCIENCE

Lugar: San Francisco; Año: 2013 vol. 9 p. 1 - 16

1553-7390

Numerous studies of human populations in Europe and Asia have revealed a concordance between their extant geneticstructure and the prevailing regional pattern of geography and language. For native South Americans, however, suchevidence has been lacking so far. Therefore, we examined the relationship between Y-chromosomal genotype on the onehand, and male geographic origin and linguistic affiliation on the other, in the largest study of South American natives todate in terms of sampled individuals and populations. A total of 1,011 individuals, representing 50 tribal populations from81 settlements, were genotyped for up to 17 short tandem repeat (STR) markers and 16 single nucleotide polymorphisms(Y-SNPs), the latter resolving phylogenetic lineages Q and C. Virtually no structure became apparent for the extant Ychromosomalgenetic variation of South American males that could sensibly be related to their inter-tribal geographic andlinguistic relationships. This continent-wide decoupling is consistent with a rapid peopling of the continent followed bylong periods of isolation in small groups. Furthermore, for the first time, we identified a distinct geographical cluster of YSNPlineages C-M217 (C3*) in South America. Such haplotypes are virtually absent from North and Central America, butoccur at high frequency in Asia. Together with the locally confined Y-STR autocorrelation observed in our study as a whole,the available data therefore suggest a late introduction of C3* into South America no more than 6,000 years ago, perhapsvia coastal or trans-Pacific routes. Extensive simulations revealed that the observed lack of haplogroup C3* among extantNorth and Central American natives is only compatible with low levels of migration between the ancestor populations ofC3* carriers and non-carriers. In summary, our data highlight the fact that a pronounced correlation between genetic andgeographic/cultural structure can only be expected under very specific conditions, most of which are likely not to have beenmet by the ancestors of native South Americans.