OMIA 001089-9579 : Blood group system ABO in Hylobates agilis

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

Possibly relevant human trait(s) and/or gene(s) (MIM number): 110300

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Co-Dominant

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2009

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.

Molecular basis: Kitano et al. (2009) reported that the essential differences between the A and B alleles in this species are haplotypes arising from c.2178C>A and c.2185G>C, each of which is missense. Specifically, the A allele has haplotype c.2178C + c.2185G and the B allele has haplotype c.2178A + c.2185C.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ABO Hylobates agilis - no genomic information (-..-) ABO Ensembl

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Blood group system ABO ABO missense c.2178C>A and c.2185G>C 2009 19298858

Reference


2009 Kitano, T., Noda, R., Takenaka, O., Saitou, N. :
Relic of ancient recombinations in gibbon ABO blood group genes deciphered through phylogenetic network analysis. Mol Phylogenet Evol 51:465-71, 2009. Pubmed reference: 19298858. DOI: 10.1016/j.ympev.2009.02.023.

Edit History


  • Created by Frank Nicholas on 19 Oct 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 20 Mar 2012
  • Changed by Frank Nicholas on 27 Nov 2013