OMIA:001089-9544 : Blood group system ABO in Macaca mulatta
In other species: olive baboon , pig , Japanese macaque , chimpanzee , 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: 1998
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: Doxiadis et al. (1998) reported that the A and B alleles differ by just two missense mutations in codons 266 and 268. Thus allele A is a reflection of the peptide haplotype p.266Leu + p.268Gly, and allele B reflects the peptide haplotype p.266Met + p.268Ala
|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)||Macaca mulatta||15||NC_041768.1 (7086376..7107347)||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|
|21||Antigen A||ABO||haplotype||Naturally occurring variant||p.266L + p.268G||Allele A is reflected in the peptide haplotype p.266Leu + p.268Gly||1998||9583803|
|1174||Antigen B||ABO||haplotype||Naturally occurring variant||p.266M + p.268A||Allele B is a reflection of the peptide haplotype p.266Met + p.268Ala||1998||9583803|
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.
|2011||Premasuthan, A., Kanthaswamy, S., Satkoski, J., Smith, D.G. :|
|A simple multiplex polymerase chain reaction to determine ABO blood types of rhesus macaques (Macaca mulatta). Tissue Antigens 77:584-8, 2011. Pubmed reference: 21395559 . DOI: 10.1111/j.1399-0039.2010.01602.x.|
|2009||Chen, S., Wei, Q., Li, J., Xiang, Y., Guo, H., Ichim, T.E., Chen, S., Chen, G. :|
|A simple and reliable method to blood type monkeys using serum samples. Transpl Int 22:999-1004, 2009. Pubmed reference: 19298252 . DOI: 10.1111/j.1432-2277.2009.00859.x.|
|2008||Malaivijitnond, S., Sae-Low, W., Hamada, Y. :|
|The human-ABO blood groups of free-ranging long-tailed macaques (Macaca fascicularis) and parapatric rhesus macaques (M. mulatta) in Thailand. J Med Primatol 37:31-7, 2008. Pubmed reference: 18199070 . DOI: 10.1111/j.1600-0684.2007.00223.x.|
|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 .|
|1998||Doxiadis, G.G., Otting, N., Antunes, S.G., de Groot, N.G., Harvey, M., Doxiadis, I.I., Jonker, M., Bontrop, R.E. :|
|Characterization of the ABO blood group genes in macaques: evidence for convergent evolution. Tissue Antigens 51:321-6, 1998. Pubmed reference: 9583803 .|
|1980||Socha, W.W., Lasano, S.G. :|
|The A-B-O blood groups of rhesus monkeys: new observations. J Med Primatol 9:83-7, 1980. Pubmed reference: 6771406 . DOI: 10.1159/000460125.|
|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 .|
|1968||Moor-Jankowski, J., Wiener, A.S. :|
|Blood groups of non-human primates. Summary of the currently available information. Primates Med 1:49-67, 1968. Pubmed reference: 4135382 .|
- Changed by Frank Nicholas on 19 Oct 2011
- Created by Frank Nicholas on 19 Oct 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 31 Mar 2020