New native South American Y chromosome lineages

Marilza S. Jota, Daniela R. Lacerda, José R. Sandoval, Pedro Paulo R. Vieira, Dominique Ohasi, José E. Santos-Jnior, Oscar Acosta, Cinthia Cuellar, Susana Revollo, Cesar Paz-y-Mi'o, Ricardo Fujita, Gustavo A. Vallejo, Theodore G. Schurr, Eduardo M. Tarazona-Santos, Sergio D.J. Pena, Qasim Ayub, Chris Tyler-Smith, Fabr'cio R. Santos

Resultado de la investigación: Contribución a una revistaArtículorevisión exhaustiva

22 Citas (Scopus)


Many single-nucleotide polymorphisms (SNPs) in the non-recombining region of the human Y chromosome have been described in the last decade. High-coverage sequencing has helped to characterize new SNPs, which has in turn increased the level of detail in paternal phylogenies. However, these paternal lineages still provide insufficient information on population history and demography, especially for Native Americans. The present study aimed to identify informative paternal sublineages derived from the main founder lineage of the Americas - haplogroup Q-L54 - in a sample of 1841 native South Americans. For this purpose, we used a Y-chromosomal genotyping multiplex platform and conventional genotyping methods to validate 34 new SNPs that were identified in the present study by sequencing, together with many Y-SNPs previously described in the literature. We updated the haplogroup Q phylogeny and identified two new Q-M3 and three new Q-L54∗(xM3) sublineages defined by five informative SNPs, designated SA04, SA05, SA02, SA03 and SA29. Within the Q-M3, sublineage Q-SA04 was mostly found in individuals from ethnic groups belonging to the Tukanoan linguistic family in the northwest Amazon, whereas sublineage Q-SA05 was found in Peruvian and Bolivian Amazon ethnic groups. Within Q-L54∗, the derived sublineages Q-SA03 and Q-SA02 were exclusively found among Coyaima individuals (Cariban linguistic family) from Colombia, while Q-SA29 was found only in Maxacali individuals (Jean linguistic family) from southeast Brazil. Furthermore, we validated the usefulness of several published SNPs among indigenous South Americans. This new Y chromosome haplogroup Q phylogeny offers an informative paternal genealogy to investigate the pre-Columbian history of South America.Journal of Human Genetics advance online publication, 31 March 2016; doi:10.1038/jhg.2016.26.

Idioma originalInglés
Páginas (desde-hasta)593-603
Número de páginas11
PublicaciónJournal of Human Genetics
EstadoPublicada - 1 jul. 2016

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Publisher Copyright:
© 2016 The Japan Society of Human Genetics.


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