Evolution of primate ABO blood group genes and their homologous genes

Mol Biol Evol. 1997 Apr;14(4):399-411. doi: 10.1093/oxfordjournals.molbev.a025776.

Abstract

There are three common alleles (A, B, and O) at the human ABO blood group locus. We compared nucleotide sequences of these alleles, and relatively large numbers of nucleotide differences were found among them. These differences correspond to the divergence time of at least a few million years, which is unusually large for a human allelic divergence under neutral evolution. We constructed phylogenetic networks of human and nonhuman primate ABO alleles, and at least three independent appearances of B alleles from the ancestral A form were observed. These results suggest that some kind of balancing selection may have been operating at the ABO locus. We also constructed phylogenetic trees of ABO and their evolutionarily related alpha-1,3-galactosyltransferase genes, and the divergence time between these two families was estimated to be roughly 400 MYA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ABO Blood-Group System / genetics*
  • Alleles
  • Amino Acid Sequence
  • Animals
  • Evolution, Molecular*
  • Humans
  • Molecular Sequence Data
  • Phylogeny
  • Primates / genetics*
  • Sequence Homology, Amino Acid
  • Species Specificity

Substances

  • ABO Blood-Group System

Associated data

  • GENBANK/J04989
  • GENBANK/J05175
  • GENBANK/L36152
  • GENBANK/M85153
  • GENBANK/S71333