title: Continent-wide decoupling of Y-chromosomal genetic variation from language and geography in native South Americans.
abstract: Numerous studies of human populations in Europe and Asia have revealed a concordance between their extant genetic structure and the prevailing regional pattern of geography and language. For native South Americans, however, such evidence has been lacking so far. Therefore, we examined the relationship between Y-chromosomal genotype on the one hand, and male geographic origin and linguistic affiliation on the other, in the largest study of South American natives to date in terms of sampled individuals and populations. A total of 1,011 individuals, representing 50 tribal populations from 81 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 Y-chromosomal genetic variation of South American males that could sensibly be related to their inter-tribal geographic and linguistic relationships. This continent-wide decoupling is consistent with a rapid peopling of the continent followed by long periods of isolation in small groups. Furthermore, for the first time, we identified a distinct geographical cluster of Y-SNP lineages C-M217 (C3*) in South America. Such haplotypes are virtually absent from North and Central America, but occur 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, perhaps via coastal or trans-Pacific routes. Extensive simulations revealed that the observed lack of haplogroup C3* among extant North and Central American natives is only compatible with low levels of migration between the ancestor populations of C3* carriers and non-carriers. In summary, our data highlight the fact that a pronounced correlation between genetic and geographic/cultural structure can only be expected under very specific conditions, most of which are likely not to have been met by the ancestors of native South Americans.
authors.affiliation: Institute of Legal Medicine and Forensic Sciences, Department of Forensic Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany. lutz.roewer@charite.de
authors.forename: Lutz
authors.initials: L
authors.lastname: Roewer
authors.forename: Michael
authors.initials: M
authors.lastname: Nothnagel
authors.forename: Leonor
authors.initials: L
authors.lastname: Gusmão
authors.forename: Veronica
authors.initials: V
authors.lastname: Gomes
authors.forename: Miguel
authors.initials: M
authors.lastname: González
authors.forename: Daniel
authors.initials: D
authors.lastname: Corach
authors.forename: Andrea
authors.initials: A
authors.lastname: Sala
authors.forename: Evguenia
authors.initials: E
authors.lastname: Alechine
authors.forename: Teresinha
authors.initials: T
authors.lastname: Palha
authors.forename: Ney
authors.initials: N
authors.lastname: Santos
authors.forename: Andrea
authors.initials: A
authors.lastname: Ribeiro-Dos-Santos
authors.forename: Maria
authors.initials: M
authors.lastname: Geppert
authors.forename: Sascha
authors.initials: S
authors.lastname: Willuweit
authors.forename: Marion
authors.initials: M
authors.lastname: Nagy
authors.forename: Sarah
authors.initials: S
authors.lastname: Zweynert
authors.forename: Miriam
authors.initials: M
authors.lastname: Baeta
authors.forename: Carolina
authors.initials: C
authors.lastname: Núñez
authors.forename: Begoña
authors.initials: B
authors.lastname: Martínez-Jarreta
authors.forename: Fabricio
authors.initials: F
authors.lastname: González-Andrade
authors.forename: Elizeu
authors.initials: E
authors.lastname: Fagundes de Carvalho
authors.forename: Dayse Aparecida
authors.initials: DA
authors.lastname: da Silva
authors.forename: Juan José
authors.initials: JJ
authors.lastname: Builes
authors.forename: Daniel
authors.initials: D
authors.lastname: Turbón
authors.forename: Ana Maria
authors.initials: AM
authors.lastname: Lopez Parra
authors.forename: Eduardo
authors.initials: E
authors.lastname: Arroyo-Pardo
authors.forename: Ulises
authors.initials: U
authors.lastname: Toscanini
authors.forename: Lisbeth
authors.initials: L
authors.lastname: Borjas
authors.forename: Claudia
authors.initials: C
authors.lastname: Barletta
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Ewart
authors.forename: Sidney
authors.initials: S
authors.lastname: Santos
authors.forename: Michael
authors.initials: M
authors.lastname: Krawczak
mesh_terms: D002489:Central America; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005060:Europe; D005838:Genotype; D005843:Geography; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007199:Indians, South American / Q000235:genetics*; D007802:Language; D008037:Linguistics; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide; D044382:Population Groups / Q000235:genetics; D013020:South America