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

PILLE HALLAST; JOSE E. DIPIERRI; GRACIELA BAILLIET; JONATHAN ZAIAT; CLAUDIO M. BRAVI; PAULA B. PAZ SEPÚLVEDA; EMMA L. ALFARO; MARINA MUZZIO

San Diego, California

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

American Society of Human Genetics

The current Argentine territory was occupied by diverse pre-Columbian cultures throughout history until the arrival of the European conquerors in the late 16th century. Uniparental markers such as the Y-chromosome allow the historical reconstruction of ancestral populations by paternal lineages. The human Y-chromosomal Haplogroup Q is the most frequent haplogroup in Amerindian people of South America. Haplogroup Q-M3 (Q1b1a1a) is defined by the presence of M3 Single Nucleotide Polymorphism (SNP) and Haplogroup Q-Z780 (Q1b1a2) by SNP Z780. The sub-haplogroups of Q-M3 and Q-Z780 have the highest frequency within the autochthonous lineages in Argentina. Currently, research of both sub-haplogroups is limited due to the poor resolution of the Y-chromosomal phylogenetic tree constructed from classical SNP markers. Here, we analysed four Amerindian whole Y-chromosomes from Gran Chaco, Patagonia and Northwest Argentina using next-generation sequencing (NGS). We compare these with previously published Q-M3 and Q-Z780 sequences to discover new phylogenetically informative variants and increase the resolution of this branch of the Y Phylogenetic tree.