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
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: 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.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ABO||Hylobates agilis||-||no genomic information (-..-)||ABO||Ensembl|
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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|
|22||Alleles A and B||ABO||missense||Naturally occurring variant||c.2178C>A and c.2185G>C||Haplotype c.2178C + c.2185G is allele A; haplotype c.2178A + c.2185C is allele B||2009||19298858|
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.|
|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.|
- 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