ABO (gene)

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ABO
Protein ABO PDB 1lz0.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases ABO, A3GALNT, A3GALT1, GTB, NAGAT, ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
External IDs OMIM: 110300 MGI: 2135738 HomoloGene: 69306 GeneCards: 28
EC number 2.4.1.37 2.4.1.40, 2.4.1.37
Genetically Related Diseases
Disease Name References
malaria
Graves' disease
Putisima
duodenal ulcer
coronary artery disease
pancreatic cancer
RNA expression pattern
PBB GE ABO 214504 at tn.png

PBB GE ABO 216929 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_020469

NM_030718
NM_001290444

RefSeq (protein)

NP_065202.2

NP_001277373.1
NP_109643.3

Location (UCSC) Chr 9: 133.25 – 133.28 Mb Chr 2: 26.84 – 26.86 Mb
PubMed search [7] [8]
Wikidata
View/Edit Human View/Edit Mouse
The ABO gene is located on the long (q) arm of chromosome 9 at position 34.2.

Histo-blood group ABO system transferase is an enzyme with glycosyltransferase activity, which is encoded by the ABO gene in humans.[9][10]

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[edit]

The ABO locus encodes three alleles. The A allele produces α1,3-N-acetylgalactosamine transferase (A-transferase), which catalyzes the transfer of GalNAc residues from the UDP-GalNAc donor nucleotide to the Gal residues of the acceptor H antigen, converting the H antigen into A antigen in A and AB individuals. The B allele encodes α1,3-galactosaminyl transferase (B-transferase), which catalyzes the transfer of Gal residues from the UDP-Gal donor nucleotide to the Gal residues of the acceptor H-antigen, converting the H antigen into B antigen in B and AB individuals. Remarkably, the difference between the A and B glycosyltransferase enzymes is only four amino acids.[11] The O allele lacks both enzymatic activities because of the frame shift caused by a deletion of guanine-258 in the gene which corresponds to a region near the N-terminus of the protein.[12]This results in a frameshift and translation of an almost entirely different protein.[11] This mutation results in a protein unable to modify oligosaccharides which end in fucose linked to galactose. Thus no A or B antigen is found in O individuals. This sugar combination is termed the H antigen. Other minor alleles have been found for this gene.[10] These antigens play an important role in the match of blood transfusion and organ transplantation.[11]

Common alleles[edit]

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:[13][14]

  • 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[edit]

A genome-wide association study has identified variants in the ABO locus associated with susceptibility to pancreatic cancer.[15]

References[edit]

  1. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_12365&geneId=1002". 
  2. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_12361&geneId=1002". 
  3. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_9970&geneId=1002". 
  4. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_1724&geneId=1002". 
  5. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_3393&geneId=1002". 
  6. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_1793&geneId=1002". 
  7. ^ "Human PubMed Reference:". 
  8. ^ "Mouse PubMed Reference:". 
  9. ^ Ferguson-Smith MA, Aitken DA, Turleau C, de Grouchy J (September 1976). "Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34". Human Genetics. 34 (1): 35–43. doi:10.1007/BF00284432. PMID 184030. 
  10. ^ a b "Entrez Gene: ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)". 
  11. ^ a b c 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. 
  12. ^ Iwamoto S, Kumada M, Kamesaki T, Okuda H, Kajii E, Inagaki T, et al. (November 2002). "Rat encodes the paralogous gene equivalent of the human histo-blood group ABO gene. Association with antigen expression by overexpression of human ABO transferase". The Journal of Biological Chemistry. 277 (48): 46463–9. doi:10.1074/jbc.M206439200. PMID 12237302. 
  13. ^ Seltsam A, Hallensleben M, Kollmann A, Blasczyk R (October 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. 
  14. ^ Ogasawara K, Bannai M, Saitou N, Yabe R, Nakata K, Takenaka M, Fujisawa K, Uchikawa M, Ishikawa Y, Juji T, Tokunaga K (June 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. 
  15. ^ Amundadottir L, Kraft P, Stolzenberg-Solomon RZ, Fuchs CS, Petersen GM, Arslan AA, et al. (September 2009). "Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer". Nature Genetics. 41 (9): 986–90. doi:10.1038/ng.429. PMC 2839871free to read. PMID 19648918. 

Further reading[edit]

  • Ferguson-Smith MA, Aitken DA, Turleau C, de Grouchy J (September 1976). "Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34". Human Genetics. 34 (1): 35–43. doi:10.1007/BF00284432. PMID 184030. 
  • Nagai M, Davè V, Kaplan BE, Yoshida A (January 1978). "Human blood group glycosyltransferases. I. Purification of n-acetylgalactosaminyltransferase". The Journal of Biological Chemistry. 253 (2): 377–9. PMID 618875. 
  • Takeya A, Hosomi O, Shimoda N, Yazawa S (September 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". Journal of Biochemistry. 112 (3): 389–95. PMID 1429528. 
  • Kominato Y, McNeill PD, Yamamoto M, Russell M, Hakomori S, Yamamoto F (November 1992). "Animal histo-blood group ABO genes". Biochemical and Biophysical Research Communications. 189 (1): 154–64. doi:10.1016/0006-291X(92)91538-2. PMID 1449469. 
  • Yamamoto F, McNeill PD, Hakomori S (August 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". Biochemical and Biophysical Research Communications. 187 (1): 366–74. doi:10.1016/S0006-291X(05)81502-5. PMID 1520322. 
  • Clausen H, White T, Takio K, Titani K, Stroud M, Holmes E, Karkov J, Thim L, Hakomori S (January 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". The Journal of Biological Chemistry. 265 (2): 1139–45. PMID 2104827. 
  • Yamamoto F, Marken J, Tsuji T, White T, Clausen H, Hakomori S (January 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". The Journal of Biological Chemistry. 265 (2): 1146–51. PMID 2104828. 
  • Yamamoto F, Hakomori S (November 1990). "Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid substitutions". The Journal of Biological Chemistry. 265 (31): 19257–62. PMID 2121736. 
  • 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. 
  • Whitehead JS, Bella S, Kim YS (June 1974). "An N-acetylgalactosaminyltransferase from human blood group A plasma. II. Kinetic and physicochemical properties". The Journal of Biological Chemistry. 249 (11): 3448–52. PMID 4831223. 
  • Whitehead JS, Bella A, Kim YS (June 1974). "An N-acetylgalactosaminyltransferase from human blood group A plasma. I. Purification and agarose binding properties". The Journal of Biological Chemistry. 249 (11): 442–7. PMID 4831233. 
  • Kobata A, Ginsburg V (March 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". The Journal of Biological Chemistry. 245 (6): 1484–90. PMID 5442829. 
  • Yoshida A, Yamaguchi H, Okubo Y (May 1980). "Genetic mechanism of cis-AB inheritance. I. A case associated with unequal chromosomal crossing over". American Journal of Human Genetics. 32 (3): 332–8. PMC 1686052free to read. PMID 6770676. 
  • Olsson ML, Thuresson B, Chester MA (November 1995). "An Ael allele-specific nucleotide insertion at the blood group ABO locus and its detection using a sequence-specific polymerase chain reaction". Biochemical and Biophysical Research Communications. 216 (2): 642–7. doi:10.1006/bbrc.1995.2670. PMID 7488159. 
  • Bennett EP, Steffensen R, Clausen H, Weghuis DO, van Kessel AG (January 1995). "Genomic cloning of the human histo-blood group ABO locus". Biochemical and Biophysical Research Communications. 206 (1): 318–25. doi:10.1006/bbrc.1995.1044. PMID 7598760. 
  • Yamamoto F, McNeill PD, Hakomori S (February 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, Weghuis DO, Geurts van Kessel A (June 1995). "Genomic cloning of the human histo-blood group ABO locus". Biochemical and Biophysical Research Communications. 211 (1): 347. doi:10.1006/bbrc.1995.1817. PMID 7779106. 
  • Yamamoto F, McNeill PD, Kominato Y, Yamamoto M, Hakomori S, Ishimoto S, Nishida S, Shima M, Fujimura Y (1993). "Molecular genetic analysis of the ABO blood group system: 2. cis-AB alleles". Vox Sanguinis. 64 (2): 120–3. doi:10.1111/j.1423-0410.1993.tb02529.x. PMID 8456556. 
  • Yamamoto F, McNeill PD, Yamamoto M, Hakomori S, Harris T (1993). "Molecular genetic analysis of the ABO blood group system: 3. A(X) and B(A) alleles". Vox Sanguinis. 64 (3): 171–4. doi:10.1111/j.1423-0410.1993.tb05157.x. PMID 8484250. 
  • Ogasawara K, Yabe R, Uchikawa M, Saitou N, Bannai M, Nakata K, Takenaka M, Fujisawa K, Ishikawa Y, Juji T, Tokunaga K (October 1996). "Molecular genetic analysis of variant phenotypes of the ABO blood group system". Blood. 88 (7): 2732–7. PMID 8839869. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.