Neanderthal ABO genotype calls

We inferred the ABO alleles according to the functional approach developed by [18, 19] for pure and chimeric A-B transferase cDNAs. In conformity with this approach, we identified the ABO alleles by 4 letters corresponding to the 4 main amino acid changes in the catalytic site of the glycosyltransferase of pure A or B allele positions, preceded by the presence or not of the G in position c.261 (rs8176719) (i.e. G-AAAA meaning 4 SNPs of A allele generating A phenotype) and the deletion or not of the C at position c.1061 (rs56392308) to differentiate the A1 and A2 alleles. We achieved the ABO allele identification with the screening of all exons and collected the genotypes at 39 additional loci previously identified as responsible for various ABO alleles [20] (S2 Table; Fig A in S1 File). Special attention has been taken to FUT2 whose amino acid numbering in NBCI and hg19 should be rectified to get the correct amino-acid changes as mentioned by the ISBT. This is due to the fact that the initiation codon is the third ATG at the beginning of exon 2 (19: 49,206,247) [21].

Identifying and Interpreting Apparent Neanderthal Ancestry in African Individuals