Discovery of phylogenetically informative Y-chromosomal variants in Argentine Amerindians Q haplogroup using next-generation sequencing data

PAULA B. PAZ SEPÚLVEDA,; ALFARO EL; MARINA MUZZIO; P. HALLAST; DIPIERRI JE; BAILLIET GRACIELA; J.J. ZAIAT; C.M. BRAVI

San Diego

Congreso; American Society of Human Genetics 68th Annual Meeting; 2018

American Society of Human Genetics

The human Y-chromosomal Haplogroup Q is the most frequent haplogroupin Amerindian people of South America. Haplogroup Q-M3 and Q-Z780 aresubclades of Haplogroup Q-L54. Haplogroup Q-M3 (Q1b1a1a) is defi ned bythe presence of M3 Single Nucleotide Polymorphism (SNP) and HaplogroupQ-Z780 (Q1b1a2) by SNP Z780. The sub-haplogroups of Q-M3 and Q-Z780have the highest frequency within the autochthonous lineages in Argentina.Currently the research of both sub-haplogroups is limited due to poor resolutionof Y-chromosomal phylogenetic tree constructed from the classical SNPmarkers. Here, we analysed four amerindian whole Y chromosomes from GranChaco, Patagonia and Northwest Argentina generated using next-generationsequencing (NGS). We compare these with previously published Q-M3 andQ-Z780 sequences with the aim to discover new phylogenetically informativevariants and increase the resolution of this branch of the Y Phylogenetic tree.Those new variants will improve our understanding of the geographic structuringof the genetic diversity of the Y chromosome in South America