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
Categories: Haematopoietic system phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 110300 (gene)
Links to MONDO diseases: No links.
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).
|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_072407.1 (113687719..113661772)||ABO||Homologene, Ensembl , NCBI gene|
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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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|532||O (lack of antigen)||ABO||O^del||deletion, small (<=20)||Naturally occurring variant||c.514_522delGTGCTGGAG||p.(V172-E174del)||1999||10380696|
|24||O (lack of antigen)||ABO||O^x||missense||Naturally occurring variant||c.791A>C||p.(Y264C)||1999||10380696|
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.
|2023||Sano, R., Fukuda, H., Kubo, R., Oishi, T., Miyabe-Nishiwaki, T., Kaneko, A., Masato, H., Takahashi, Y., Hayakawa, A., Yazawa, S., Kominato, Y. :|
|Emergence of an erythroid cell-specific regulatory region in ABO intron 1 attributable to A- or B-antigen expression on erythrocytes in Hominoidea. Sci Rep 13:4947, 2023. Pubmed reference: 36973299 . DOI: 10.1038/s41598-023-31961-6.|
|2010||Gamble, K.C., Moyse, J.A., Lovstad, J.N., Ober, C.B., Thompson, E.E. :|
|Blood groups in the Species Survival Plan®, 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 .|
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