ABO (gene)

ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)

PDB rendering based on 1lz0.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ABO ; A3GALNT; A3GALT1; GTB; NAGAT
External IDs OMIM: 110300 MGI: 2135738 HomoloGene: 69306 GeneCards: ABO Gene
EC number 2.4.1.37, 2.4.1.40
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 28 80908
Ensembl ENSG00000175164 ENSMUSG00000015787
UniProt P16442 P38649
RefSeq (mRNA) NM_020469 NM_001290444
RefSeq (protein) NP_065202 NP_001277373
Location (UCSC) Chr 9:
133.25 – 133.28 Mb		 Chr 2:
26.84 – 26.86 Mb
PubMed search

Histo-blood group ABO system transferase is an enzyme with glycosyltransferase activity, which is encoded by the ABO gene in humans.[1][2]

It determines the ABO blood group of an individual by modifying the oligosaccharides on cell surface glycoproteins. Variations in the sequence of the protein between individuals determine the type of modification and the blood group.

Function

This gene encodes a protein related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 in the gene which corresponds to a region near the N-terminus of the protein. This results in a frameshift and translation of an almost entirely different protein.[3] This mutation results in a protein unable to modify oligosaccharides which end in fucose linked to galactose. This sugar combination is termed the H antigen.

The A and B alleles of the ABO gene express enzymes with glycosyltransferase activities that differ, adding either N-acetyl galactosamine or galactose to the H antigen, converting it into the A or B antigen respectively. Individuals who are heterozygous for this gene express both proteins and so make both A and B antigens. Their blood group is AB. Remarkably, the difference between the A and B glycosyltransferase enzymes is only four amino acids.[3] Other minor alleles have been found for this gene.[2]

Common alleles

There are six common alleles in individuals of European descent. Nearly every living human's phenotype for the ABO gene is some combination of just these six alleles:[4][5]

  • A
    • A101 (A1)
    • A201 (A2)
  • B
    • B101 (B1)
  • O
    • O01 (O1)
    • O02 (O1v)
    • O03 (O2)

Many rare variants of these alleles have been found in human populations around the world.

Clinical signficance

A genome-wide association study has identified variants in the ABO locus associated with susceptibility to pancreatic cancer.[6]

References

  1. ↑ Ferguson-Smith MA, Aitken DA, Turleau C, de Grouchy J (Dec 1976). "Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34". Hum Genet 34 (1): 35–43. doi:10.1007/BF00284432. PMID 184030.
  2. 1 2 "Entrez Gene: ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)".
  3. 1 2 Yamamoto F, Clausen H, White T, Marken J, Hakomori S (May 1990). "Molecular genetic basis of the histo-blood group ABO system". Nature 345 (6272): 229–33. doi:10.1038/345229a0. PMID 2333095.
  4. ↑ Seltsam A, Hallensleben M, Kollmann A, Blasczyk R (2003). "The nature of diversity and diversification at the ABO locus". Blood 102 (8): 3035–42. doi:10.1182/blood-2003-03-0955. PMID 12829588.
  5. ↑ Ogasawara K, Bannai M, Saitou N; et al. (1996). "Extensive polymorphism of ABO blood group gene: three major lineages of the alleles for the common ABO phenotypes". Human Genetics 97 (6): 777–83. doi:10.1007/BF02346189. PMID 8641696.
  6. ↑ Amundadottir L, Kraft P, Stolzenberg-Solomon RZ, Fuchs CS, Petersen GM, Arslan AA, Bueno-de-Mesquita HB, Gross M, Helzlsouer K, Jacobs EJ; et al. (September 2009). "Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer". Nat. Genet. 41 (9): 986–90. doi:10.1038/ng.429. PMC: 2839871. PMID 19648918.

Further reading

  • Ferguson-Smith MA, Aitken DA, Turleau C, de Grouchy J (1976). "Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34.". Hum. Genet. 34 (1): 35–43. doi:10.1007/BF00284432. PMID 184030. 
  • Nagai M, Davè V, Kaplan BE, Yoshida A (1978). "Human blood group glycosyltransferases. I. Purification of n-acetylgalactosaminyltransferase.". J. Biol. Chem. 253 (2): 377–9. PMID 618875. 
  • Takeya A, Hosomi O, Shimoda N, Yazawa S (1992). "Biosynthesis of the blood group P antigen-like GalNAc beta 1→3Gal beta 1→4GlcNAc/Glc structure: a novel N-acetylgalactosaminyltransferase in human blood plasma.". J. Biochem. 112 (3): 389–95. PMID 1429528. 
  • Kominato Y, McNeill PD, Yamamoto M; et al. (1992). "Animal histo-blood group ABO genes.". Biochem. Biophys. Res. Commun. 189 (1): 154–64. doi:10.1016/0006-291X(92)91538-2. PMID 1449469. 
  • Yamamoto F, McNeill PD, Hakomori S (1992). "Human histo-blood group A2 transferase coded by A2 allele, one of the A subtypes, is characterized by a single base deletion in the coding sequence, which results in an additional domain at the carboxyl terminal.". Biochem. Biophys. Res. Commun. 187 (1): 366–74. doi:10.1016/S0006-291X(05)81502-5. PMID 1520322. 
  • Clausen H, White T, Takio K; et al. (1990). "Isolation to homogeneity and partial characterization of a histo-blood group A defined Fuc alpha 1----2Gal alpha 1----3-N-acetylgalactosaminyltransferase from human lung tissue.". J. Biol. Chem. 265 (2): 1139–45. PMID 2104827. 
  • Yamamoto F, Marken J, Tsuji T; et al. (1990). "Cloning and characterization of DNA complementary to human UDP-GalNAc: Fuc alpha 1----2Gal alpha 1----3GalNAc transferase (histo-blood group A transferase) mRNA.". J. Biol. Chem. 265 (2): 1146–51. PMID 2104828. 
  • Yamamoto F, Hakomori S (1990). "Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid substitutions.". J. Biol. Chem. 265 (31): 19257–62. PMID 2121736. 
  • Yamamoto F, Clausen H, White T; et al. (1990). "Molecular genetic basis of the histo-blood group ABO system.". Nature 345 (6272): 229–33. doi:10.1038/345229a0. PMID 2333095. 
  • Whitehead JS, Bella S, Kim YS (1974). "An N-acetylgalactosaminyltransferase from human blood group A plasma. II. Kinetic and physicochemical properties.". J. Biol. Chem. 249 (11): 3448–52. PMID 4831223. 
  • Whitehead JS, Bella A, Kim YS (1974). "An N-acetylgalactosaminyltransferase from human blood group A plasma. I. Purification and agarose binding properties.". J. Biol. Chem. 249 (11): 442–7. PMID 4831233. 
  • Kobata A, Ginsburg V (1970). "Uridine diphosphate-N-acetyl-D-galactosamine: D-galactose alpha-3-N-acetyl-D-galactosaminyltransferase, a product of the gene that determines blood type A in man.". J. Biol. Chem. 245 (6): 1484–90. PMID 5442829. 
  • Yoshida A, Yamaguchi H, Okubo Y (1980). "Genetic mechanism of cis-AB inheritance. I. A case associated with unequal chromosomal crossing over.". Am. J. Hum. Genet. 32 (3): 332–8. PMC: 1686052. PMID 6770676. 
  • Olsson ML, Thuresson B, Chester MA (1995). "An Ael allele-specific nucleotide insertion at the blood group ABO locus and its detection using a sequence-specific polymerase chain reaction.". Biochem. Biophys. Res. Commun. 216 (2): 642–7. doi:10.1006/bbrc.1995.2670. PMID 7488159. 
  • Bennett EP, Steffensen R, Clausen H; et al. (1995). "Genomic cloning of the human histo-blood group ABO locus.". Biochem. Biophys. Res. Commun. 206 (1): 318–25. doi:10.1006/bbrc.1995.1044. PMID 7598760. 
  • Yamamoto F, McNeill PD, Hakomori S (1995). "Genomic organization of human histo-blood group ABO genes.". Glycobiology 5 (1): 51–8. doi:10.1093/glycob/5.1.51. PMID 7772867. 
  • Bennett EP, Steffensen R, Clausen H; et al. (1995). "Genomic cloning of the human histo-blood group ABO locus.". Biochem. Biophys. Res. Commun. 211 (1): 347. doi:10.1006/bbrc.1995.1817. PMID 7779106. 
  • Yamamoto F, McNeill PD, Kominato Y; et al. (1993). "Molecular genetic analysis of the ABO blood group system: 2. cis-AB alleles.". Vox Sang. 64 (2): 120–3. doi:10.1111/j.1423-0410.1993.tb02529.x. PMID 8456556. 
  • Yamamoto F, McNeill PD, Yamamoto M; et al. (1993). "Molecular genetic analysis of the ABO blood group system: 3. A(X) and B(A) alleles.". Vox Sang. 64 (3): 171–4. doi:10.1111/j.1423-0410.1993.tb05157.x. PMID 8484250. 
  • Ogasawara K, Yabe R, Uchikawa M; et al. (1996). "Molecular genetic analysis of variant phenotypes of the ABO blood group system.". Blood 88 (7): 2732–7. PMID 8839869. 
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