Primate ABO glycosyltransferases: Evidence for trans-species evolution

Abstract

The human ABO blood group system is controlled by alleles at a single locus on chromosome 9. The alleles encode glycosyltransferases, which add different sugar residues to the terminal part of the oligosaccharide core, thus generating the A or B antigens; an allele encoding enzymatically inactive protein is responsible for the blood group O. The A and B antigens are present not only in humans, but also in many other primate species and it has been proposed that the AB polymorphism was established long before these species diverged. Here we provide molecular evidence for the trans-species evolution of the AB polymorphism. Polymerase-chain reaction (PCR) amplification and sequencing has revealed that the critical substitutions differentiating the A and B genes occurred before the divergence of the lineages leading to humans, chimpanzees, gorillas, and orangutans. This polymorphism is therefore at least 13 million years old and is most likely maintained by selection. Comparison of the sequences derived from different species indicates that the difference in enzymatic activities between the A and B transferases is caused by two single nucleotide substitutions responsible for Leu-Met and Gly-Ala replacement at positions 265 and 267 in the polypeptide chains, respectively.

Murine Equivalent of the Human Histo-blood Group ABO Gene Is acis-AB Gene and Encodes a Glycosyltransferase with Both A and B Transferase Activity

“…The glycosyltransferases responsible for A or B phenotypes in primates were shown to conserve amino acid substitutions corresponding to codons 266 and 268 in humans. A similar study was also reported by others (18). Through comparative sequence analyses of the ABO genes from humans and apes, we and others proposed a convergent hypothesis of evolution that ABO genes arose from independent mutations after the speciation of humans and apes (19,20).…”

Evolution of the ABO blood group gene in Japanese macaque.

“…invokes parallel evolution as an explanation for the interspecific sharing of antigenic determinants. The former hypothesis was supported by Martinko et al (1993); the latter was proposed by Saitou and Yamamoto (1997) and is more consistent with partial intron 6 hominoid sequence data described by O'hUigin et al (1997). In Old World monkey, we should consider these two hypotheses.…”

“…Kominato et al (1992) determined the ABO group gene exon 7 sequences of chimpanzee, gorilla, orangutan, crabeating macaque, and yellow baboon. Martinko et al (1993) supported the trans-species polymorphism hypothesis in hominoids based on their sequence data. Saitou and Yamamoto (1997) analyzed sequence data of the ABO blood group gene exon 7 that determines the activity of the glycosyltransferase-encoding genes from the human, chimpanzee, gorilla, orangutan, and some Old World monkeys.…”

Scan of Human Genome Reveals No New Loci Under Ancient Balancing Selection

“…The initial suggestion of long-term balancing selection came from the fact that the AB antigen-antibody phenotype is present in many primates, including some New World monkeys (Blancher et al 2000). Furthermore, it has been shown biochemically that only two nucleotides, separated by 6 bp, differentiate the A allele from the B allele (Yamamoto and Hakomori 1990) and that these two nucleotides demonstrate apparent transspecies polymorphism within humans, chimpanzees, and gorillas (Martinko et al 1993). In contrast, the O allele appears to have arisen multiple times in humans but is rare in nonhuman primates.…”