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

PAZ SEPÚLVEDA PB; HALLAST P; ZAIAT JJ; ALFARO GOMEZ EL; DIPIER I JE; MUZZIO M; BAILLIET G

San Diego

Congreso; ASHG2018; 2018

The American Society of Human Genetics

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 resolution of 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 structuring of the genetic diversity of the Y chromosome in South America.