Analysis of the blood group and erythropoiesis-related genes from the whole genome sequencing data of the archaic Altai Neanderthal hominin

Abstract

Homo neanderthalensis is an extinct hominin species and the closest cousins to the present-day human populations. Although they left sufficient fossil remains, and more recently, their whole genomes have been repeatedly sequenced, any further analysis of the blood group and erythropoiesis-related genes is sorely lacking. Therefore, this study aimed to analyse these sets of genes in the Altai Neanderthal and identify their predicted blood group phenotypes.

This was achieved by using freely available pre-loaded Next Generation Sequencing-generated data with the ancient genome browser embedded in the Max Planck Institute for Evolutionary Anthropology website.

Genes from 15 blood group systems were found to be no different from the ISBT reference alleles, namely MNS, Rh, Kidd, Scianna, Colton, Landsteiner-Wiener, Chido/Rodgers, Gerbich, Indian, I, Globoside, RhAG, Jr, CD59, and KANNO, suggesting that the Altai Neanderthal and modern-day humans are remarkably similar in terms of their blood group genotypes and predicted phenotypes. However, unique single nucleotide variations were observed in some genes, leading to the less common predicted phenotypes of Js(a+b-), YTLI-, JMHK–, KCAM–, and new alleles in the Xg, Lan and Augustine systems. Of the 15 selected erythropoiesis-associated genes, only five had mutations in exonic gene regions, namely VCAM-1, ITGAV, ITGB1, ITGA4 and CSF2RB, that would, or potentially cause alterations of the related protein.

This study should be regarded as unique and important because it is the first study to report the Altai Neanderthal genotypes and predicted phenotypes in relation to the specific area of transfusion medicine and erythrocyte biology.