OMIA 001089-9598 : Blood group system ABO in Pan troglodytes

See the equivalent entry at NCBI

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

Possible human homologue (MIM number): 110300

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Co-Dominant

Considered a defect: no

Key mutation known: yes

Year key mutation 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.

Molecular basis: Kermarrec et al. (1999) reported that the key differences between functional (A or B) alleles and two O alleles are c.791A>C (p.Y264C) and c.514-522delGTGCTGGAG (p.172-174delVLE), respectively.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) Pan troglodytes 9 NC_006476.4 (111536370..111537060) ABO Homologene, Ensembl, NCBI gene
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) Pan troglodytes 9 NC_006476.4 (111563244..111544016) ABO Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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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 deletion, small (<=20) c.514_522delGTGCTGGAG p.172-174delVLE 1999 10380696
Blood group system ABO ABO missense c.791A>C p.Y264C 1999 10380696

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2000 Sumiyama, K., Kitano, T., Noda, R., Ferrell, R.E., Saitou, N. :
Gene diversity of chimpanzee ABO blood group genes elucidated from exon 7 sequences. Gene 259:75-9, 2000. Pubmed reference: 11163964.
1999 Kermarrec, N., Roubinet, F., Apoil, P.A., Blancher, A. :
Comparison of allele O sequences of the human and non-human primate ABO system. Immunogenetics 49:517-26, 1999. Pubmed reference: 10380696.

Edit History


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