ABO Genetic Variation in Neanderthals and Denisovans

Author:

Villanea Fernando A12,Huerta-Sanchez Emilia2,Fox Keolu3

Affiliation:

1. Anthropology, University of Colorado Boulder, Boulder, CO, USA

2. Ecology and Evolutionary Biology, Brown University, Providence, RI, USA

3. Anthropology and Global Health, University of California San Diego, San Diego, CA, USA

Abstract

Abstract Variation at the ABO locus was one of the earliest sources of data in the study of human population identity and history, and to this day remains widely genotyped due to its importance in blood and tissue transfusions. Here, we look at ABO blood type variants in our archaic relatives: Neanderthals and Denisovans. Our goal is to understand the genetic landscape of the ABO gene in archaic humans, and how it relates to modern human ABO variation. We found two Neanderthal variants of the O allele in the Siberian Neanderthals (O1 and O2), one of these variants is shared with an European Neanderthal, who is a heterozygote for this O1 variant and a rare cis-AB variant. The Denisovan individual is heterozygous for two variants of the O1 allele, functionally similar to variants found widely in modern humans. Perhaps more surprisingly, the O2 allele variant found in Siberian Neanderthals can be found at low frequencies in modern Europeans and Southeast Asians, and the O1 allele variant found in Siberian and European Neanderthal is also found at very low frequency in modern East Asians. Our genetic distance analyses suggest both alleles survive in modern humans due to inbreeding with Neanderthals. We find that the sequence backgrounds of the surviving Neanderthal-like O alleles in modern humans retain a higher sequence divergence than other surviving Neanderthal genome fragments, supporting a view of balancing selection operating in the Neanderthal ABO alleles by retaining highly diverse haplotypes compared with portions of the genome evolving neutrally.

Funder

U.S. National Institute of Health

Publisher

Oxford University Press (OUP)

Subject

Genetics,Molecular Biology,Ecology, Evolution, Behavior and Systematics

Reference41 articles.

1. Haplotype phasing: existing methods and new developments;Browning;Nat Rev Genet,2011

2. Analysis of human sequence data reveals two pulses of archaic Denisovan admixture;Browning;Cell,2018

3. Cis-ab, the blood group of many faces, is a conundrum to the novice eye;Chun;Ann Lab Med,2019

4. Blood group O alleles in native Americans: implications in the peopling of the Americas;Estrada-Mena;Am J Phys Anthropol,2010

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