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

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

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

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Co-Dominant

Considered a defect: 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:

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_036888.1 (105542142..105516107) ABO Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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
O (lack of antigen) ABO O^del deletion, small (<=20) c.514_522delGTGCTGGAG p.(V172-E174del) 1999 10380696
O (lack of antigen) ABO O^x 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.
2010 Gamble, K.C., Moyse, J.A., Lovstad, J.N., Ober, C.B., Thompson, E.E. :
Blood groups in the Species Survival PlanĀ®, European endangered species program, and managed in situ populations of bonobo (Pan paniscus), common chimpanzee (Pan troglodytes), gorilla (Gorilla ssp.), and orangutan (Pongo pygmaeus ssp.). Zoo Biol 30:427-44, 2010. Pubmed reference: 20853409. DOI: 10.1002/zoo.20348.
2000 Kitano, T., Noda, R., Sumiyama, K., Ferrell, R.E., Saitou, N. :
Gene diversity of chimpanzee ABO blood group genes elucidated from intron 6 sequences. J Hered 91:211-4, 2000. Pubmed reference: 10833046. DOI: 10.1093/jhered/91.3.211.
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.
1997 O'hUigin, C., Sato, A., Klein, J. :
Evidence for convergent evolution of A and B blood group antigens in primates. Hum Genet 101:141-8, 1997. Pubmed reference: 9402958. DOI: 10.1007/s004390050603.
1974 Wiener, A.S., Socha, W.W., Moor-Jankowski, J. :
Homologous of the human A-B-O blood groups in apes and monkeys. Haematologia (Budap) 8:195-216, 1974. Pubmed reference: 4142617.

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
  • Changed by Frank Nicholas on 31 Mar 2020