Increasing the resolution of Latin American haplogroup Q sub-lineages using massively parallel sequencing

ZEHRA KÖKSAL ETAL MARÍA LAURA PAROLIN, ETAL. LEONOR GUSMÃO, VANIA PEREIRA

Ferrara

Congreso; SMBE23; 2023

Society of Molecular Biology and Evolution

IntroductionY-chromosomal haplogroups are defined by SNPs, which have a characteristic geographical distribution depending on their place of origin and dispersion through human populations. Thus, the disclosure of their distribution patterns in populations makes it possible to reconstruct male migrations. However, within the Native American Q-M3 lineage, carried by the first settlers into South America, the currently available data restricts the haplogroup resolution and the determination of more specific migration routes within the continent. The aim of this study was to identify novel variants to increase the resolution of Q-lineages, with emphasis to the Q-M3 lineage. BodyUsing targeted-capture massively parallel sequencing, 8 Mb of the non-recombining portion of the Y chromosome were sequenced in 63 admixed, modern-day South Americans carrying haplogroup Q lineages. These data were combined with publicly available sequencing data of haplogroup Q from 218 modern/ancient indigenous/admixed Latin Americans.After stringent variant calling, a total of 4,176 variants with possible haplogroup Q origin were identified in the samples. Of these, 1,292 were novel, 1,900 were previously reported in the phylogeny, and 984 were published in databases without a phylogenetic context. The variants were sorted into a high-resolution phylogenetic tree by combining the new information of the (novel) haplogroup Q variants, the Y-DNA Haplogroup Tree 2019-2020 from ISOGG, and the Yfull YTree v11.01.00.ConclusionIn the present study, we identified (novel) variants that helped refining the phylogenetic tree of haplogroup Q. The resolved sub-lineages may help identify migration paths of the first settlers within South America.