In other species: crab-eating macaque , Japanese macaque , Rhesus monkey , olive baboon , agile gibbon , common gibbon , siamang , pig

Categories: Haematopoietic system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 110300 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal co-dominant

Disease-related: no

Key variant known: yes

Year key variant first reported: 1999

Cross-species summary: Each blood group system consists of a set of blood types, each of which corresponds to a particular antigen (usually a glycoprotein) on the surface of red blood cells. The different types within a system are the result of the action of different alleles at a locus that usually encodes an enzyme that catalyses the creation of the feature of the glycoprotein unique to that type, e.g. the presence of a particular sugar at the end of a short chain of sugars. The ABO blood group system arises from two alleles at a locus that encodes a glycosyltransferase: the A allele encodes alpha 1-3-N-acetylgalactosaminyltransferase; and the B allele encodes alpha 1-3-galactosyltransferase. The B allele transferase catalyses the addition of galactose to a chain of four sugars attached to a protein known as H antigen. The A allele ltransferase catalyses the addition of a derivative of galactose called N-acetylgalactosamine to the same short chain of sugars. The third allele at this locus (the O allele) results in no sugar being added to the chain.

Species-specific description: Unlike humans, chimpanzees have only two phenotypes at the ABO locus, reflecting the presence (A) or absence (O) of the A antigen.

Molecular basis: Kermarrec et al. (1999) reported two A alleles, differing only by a single synonymous substitution (A^1Ch = c.777C and A^2Ch = c.777T); and two O alleles, namely O^x (c.791A>G; p.Y264C) and O^del (c.514-522delGTGCTGGAG; p.172-174delVLE).

Associated gene: