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==Common alleles==
==Common alleles==
{{Further|ABO blood group system#Distribution and evolutionary history}}
{{Further|ABO blood group system#Distribution and evolutionary history}}
There are six common [[allele]]s in individuals of European descent the [[ABO gene]] that produce one's blood type:<ref>{{cite journal |author=Seltsam A, Hallensleben M, Kollmann A, Blasczyk R |title=The nature of diversity and diversification at the ABO locus |journal=Blood |volume=102 |issue=8 |pages=3035–42 |year=2003 |pmid=12829588 |doi=10.1182/blood-2003-03-0955}}</ref><ref>{{cite journal |author=Ogasawara K, Bannai M, Saitou N, ''et al.'' |title=Extensive polymorphism of ABO blood group gene: three major lineages of the alleles for the common ABO phenotypes |journal=Human Genetics |volume=97 |issue=6 |pages=777–83 |year=1996 |pmid=8641696 |doi=10.1007/BF02346189}}</ref>
There are six common [[allele]]s in individuals of European descent the [[ABO gene]] that produce one's blood type:<ref>{{cite journal |author=Seltsam A, Hallensleben M, Kollmann A, Blasczyk R |title=The nature of diversity and diversification at the ABO locus |journal=Blood |volume=102 |issue=8 |pages=3035–42 |year=2003 |pmid=12829588 |doi=10.1182/blood-2003-03-0955}}</ref><ref>{{cite journal |author=Ogasawara K, Bannai M, Saitou N, ''et al.'' |title=Extensive polymorphism of ABO blood group gene: three major nipples of the alleles for the common ABO phenotypes |journal=Human Genetics |volume=97 |issue=6 |pages=777–83 |year=1996 |pmid=8641696 |doi=10.1007/BF02346189}}</ref>
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Revision as of 17:04, 11 April 2013

Template:PBB Histo-blood group ABO system transferase is an enzyme with glycosyltransferase activity which in humans is encoded by the ABO gene.[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

Further information: ABO blood group system § Distribution and evolutionary history

There are six common alleles in individuals of European descent the ABO gene that produce one's blood type:[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 (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. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  2. ^ a b "Entrez Gene: ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)".
  3. ^ a b Yamamoto F, Clausen H, White T, Marken J, Hakomori S (1990). "Molecular genetic basis of the histo-blood group ABO system". Nature. 345 (6272): 229–33. doi:10.1038/345229a0. PMID 2333095. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  5. ^ Ogasawara K, Bannai M, Saitou N; et al. (1996). "Extensive polymorphism of ABO blood group gene: three major nipples of the alleles for the common ABO phenotypes". Human Genetics. 97 (6): 777–83. doi:10.1007/BF02346189. PMID 8641696. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  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. (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. {{cite journal}}: Explicit use of et al. in: |author= (help); Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)

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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • 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. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • 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. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • 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. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • 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. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • 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. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • 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. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • 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. PMID 8456556. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • 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. PMID 8484250. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • 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. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)

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



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