Human Y chromosome sequences from Q Haplogroup reveal a South American settlement pre-18,000 years ago and a profound genomic impact during the Younger Dryas

PLoS One. 2022 Aug 17;17(8):e0271971. doi: 10.1371/journal.pone.0271971. eCollection 2022.

Abstract

The settlement of the Americas has been the focus of incessant debate for more than 100 years, and open questions regarding the timing and spatial patterns of colonization still remain today. Phylogenetic studies with complete human Y chromosome sequences are used as a highly informative tool to investigate the history of human populations in a given time frame. To study the phylogenetic relationships of Native American lineages and infer the settlement history of the Americas, we analyzed Y chromosome Q Haplogroup, which is a Pan-American haplogroup and represents practically all Native American lineages in Mesoamerica and South America. We built a phylogenetic tree for Q Haplogroup based on 102 whole Y chromosome sequences, of which 13 new Argentine sequences were provided by our group. Moreover, 1,072 new single nucleotide polymorphisms (SNPs) that contribute to its resolution and diversity were identified. Q-M848 is known to be the most frequent autochthonous sub-haplogroup of the Americas. The present is the first genomic study of Q Haplogroup in which current knowledge on Q-M848 sub-lineages is contrasted with the historical, archaeological and linguistic data available. The divergence times, spatial structure and the SNPs found here as novel for Q-Z780, a less frequent sub-haplogroup autochthonous of the Americas, provide genetic support for a South American settlement before 18,000 years ago. We analyzed how environmental events that occurred during the Younger Dryas period may have affected Native American lineages, and found that this event may have caused a substantial loss of lineages. This could explain the current low frequency of Q-Z780 (also perhaps of Q-F4674, a third possible sub-haplogroup autochthonous of the Americas). These environmental events could have acted as a driving force for expansion and diversification of the Q-M848 sub-lineages, which show a spatial structure that developed during the Younger Dryas period.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Y* / genetics
  • Genetics, Population*
  • Genomics
  • Haplotypes
  • Humans
  • Phylogeny

Grants and funding

MM was supported by funding from the Consejo Nacional de Investigación Científica y Tecnológica (CONICET; http://www.conicet.gov.ar/?lan=en); the PICT2014 #0396, Agencia Nacional de Promoción Científica y Tecnológica (http://www.agencia.mincyt.gob.ar/); and the Fundación Bunge y Born (https://www.fundacionbyb.org/), Argentina. GB was supported by funding from the PIP2013-2015 #325 of the Consejo Nacional de Investigación Científica y Tecnológica (CONICET; http://www.conicet.gov.ar/?lan=en); and the PICT 2013-2015 #424 of the Agencia Nacional de Promoción Científica y Tecnológica (http://www.agencia.mincyt.gob.ar/), Argentina. CMB was supported by funding from the PIP CONICET 2010 N°1 of the Consejo Nacional de Investigación Científica y Tecnológica (CONICET; http://www.conicet.gov.ar/?lan=en); the PICT 2005 #16-32450; PICT 2008 #715; PICT 2013 #1611; PICT 2015 #2167; and PICT 2017 #27 of the Agencia Nacional de Promoción Científica y Tecnológica (http://www.agencia.mincyt.gob.ar/), Argentina. PBPS, ACM, EJS, JJZ, MC, MS, DRG, EA and ELAG was supported by funding from the Consejo Nacional de Investigación Científica y Tecnológica (CONICET; http://www.conicet.gov.ar/?lan=en); PBPS, DRG, and EA was supported by funding from the Agencia Nacional de Promoción Científica y Tecnológica (http://www.agencia.mincyt.gob.ar/), Argentina. CS and MRS was supported by funding from the Comisión de Investigaciones Científicas de la Provincia de Buenos Aires (www.cic.gba.gob.ar), Argentina. JED was supported by funding from the Universidad Nacional de Jujuy, Argentina (www.unju.edu.ar). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.