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Wikipedia

ABO (gene)

December 15, 2023

Histo-blood group ABO system transferase is an enzyme with glycosyltransferase activity, which is encoded by the ABO gene in humans.[5][6] It is ubiquitously expressed in many tissues and cell types.[7] ABO 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. The ABO gene also contains one of 27 SNPs associated with increased risk of coronary artery disease.[8]

ABO
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesABO, A3GALNT, A3GALT1, GTB, NAGAT, ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase), alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
External IDsOMIM: 110300 MGI: 2135738 HomoloGene: 69306 GeneCards: ABO
EC number2.4.1.37 2.4.1.40, 2.4.1.37
Orthologs
SpeciesHumanMouse
Entrez

28

80908

Ensembl

ENSG00000175164
ENSG00000281879

ENSMUSG00000015787

UniProt

P16442

P38649

RefSeq (mRNA)

NM_020469

NM_030718
NM_001290444

RefSeq (protein)

NP_065202

NP_001277373
NP_109643

Location (UCSC)Chr 9: 133.23 – 133.28 MbChr 2: 26.73 – 26.75 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Alleles edit

The ABO gene resides on chromosome 9 at the band 9q34.2 and contains 7 exons.[6] The ABO locus encodes three alleles, that is, 3 variants of the same gene. One allele is derived from each parent.

The A allele produces α-1,3-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 α-1,3-galactosyl 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.[9]

The O allele lacks both enzymatic activities because of the frameshift caused by a deletion of guanine-258 in the gene which corresponds to a region near the N-terminus of the protein.[10] This results in a frameshift and thus of a truncated protein of only 117 amino acids.[9][11] The truncated protein is 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. These antigens play an important role in the match of blood transfusion and organ transplantation.[9] Other minor alleles have been found for this gene.[6]

Common alleles edit

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

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:[12][13]

  • 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 significance edit

In human cells, the ABO alleles and their encoded glycosyltransferases have been described in several oncologic conditions.[14] Using anti-GTA/GTB monoclonal antibodies, it was demonstrated that a loss of these enzymes was correlated to malignant bladder and oral epithelia.[15][16] Furthermore, the expression of ABO blood group antigens in normal human tissues is dependent upon the type of differentiation of the epithelium. In most human carcinomas, including oral carcinoma, a significant event as part of the underlying mechanism is decreased expression of the A and B antigens.[17] Several studies have observed that a relative down-regulation of GTA and GTB occurs in oral carcinomas in association with tumor development.[17][18] More recently, a genome wide association study (GWAS) has identified variants in the ABO locus associated with susceptibility to pancreatic cancer.[19][20]

Clinical marker edit

A multi-locus genetic risk score study based on a combination of 27 loci, including the ABO gene, identified individuals at increased risk for both incident and recurrent coronary artery disease events, as well as an enhanced clinical benefit from statin therapy. The study was based on a community cohort study (the Malmo Diet and Cancer study) and four additional randomized controlled trials of primary prevention cohorts (JUPITER and ASCOT) and secondary prevention cohorts (CARE and PROVE IT-TIMI 22).[8]

References edit

  1. ^ a b c ENSG00000281879 GRCh38: Ensembl release 89: ENSG00000175164, ENSG00000281879 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000015787 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. S2CID 12384399.
  6. ^ a b c "Entrez Gene: ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)".
  7. ^ "BioGPS - your Gene Portal System". biogps.org. Retrieved 2016-10-11.
  8. ^ a b Mega JL, Stitziel NO, Smith JG, Chasman DI, Caulfield MJ, Devlin JJ, Nordio F, Hyde CL, Cannon CP, Sacks FM, Poulter NR, Sever PS, Ridker PM, Braunwald E, Melander O, Kathiresan S, Sabatine MS (June 2015). "Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials". Lancet. 385 (9984): 2264–71. doi:10.1016/S0140-6736(14)61730-X. PMC 4608367. PMID 25748612.
  9. ^ 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. Bibcode:1990Natur.345..229Y. doi:10.1038/345229a0. PMID 2333095. S2CID 4237562.
  10. ^ Iwamoto S, Kumada M, Kamesaki T, Okuda H, Kajii E, Inagaki T, Saikawa D, Takeuchi K, Ohkawara S, Takahashi R, Ueda S, Inoue S, Tahara K, Hakamata Y, Kobayashi E (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.
  11. ^ "ABO - Histo-blood group ABO system transferase - Homo sapiens (Human) - ABO gene & protein". www.uniprot.org. Retrieved 2021-12-06.
  12. ^ 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.
  13. ^ 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. S2CID 12076999.
  14. ^ Goldman M (February 2007). "Translational mini-review series on Toll-like receptors: Toll-like receptor ligands as novel pharmaceuticals for allergic disorders". Clinical and Experimental Immunology. 147 (2): 208–16. doi:10.1111/j.1365-2249.2006.03296.x. PMC 1810467. PMID 17223960.
  15. ^ Kay HE (November 1982). "Bone marrow transplantation: 1982". British Medical Journal. 285 (6351): 1296–8. doi:10.1136/bmj.285.6351.1296. PMC 1500229. PMID 6812684.
  16. ^ Hakomori S (December 1999). "Antigen structure and genetic basis of histo-blood groups A, B and O: their changes associated with human cancer". Biochimica et Biophysica Acta (BBA) - General Subjects. 1473 (1): 247–66. doi:10.1016/s0304-4165(99)00183-x. PMID 10580143.
  17. ^ a b Dabelsteen E, Gao S (January 2005). "ABO blood-group antigens in oral cancer". Journal of Dental Research. 84 (1): 21–8. doi:10.1177/154405910508400103. PMID 15615870. S2CID 16975373.
  18. ^ Dabelsteen E (February 2002). "ABO blood group antigens in oral mucosa. What is new?". Journal of Oral Pathology & Medicine. 31 (2): 65–70. doi:10.1046/j.0904-2512.2001.00004.x. PMID 11896825.
  19. ^ Amundadottir LT (2016-01-01). "Pancreatic Cancer Genetics". International Journal of Biological Sciences. 12 (3): 314–25. doi:10.7150/ijbs.15001. PMC 4753160. PMID 26929738.
  20. ^ 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 2839871. PMID 19648918.

Further reading edit

  • 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. doi:10.1016/S0021-9258(17)38216-9. 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. doi:10.1093/oxfordjournals.jbchem.a123910. 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. doi:10.1016/S0021-9258(19)40169-5. 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. doi:10.1016/S0021-9258(19)40170-1. 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. doi:10.1016/S0021-9258(17)30652-X. PMID 2121736.
  • 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. doi:10.1016/S0021-9258(19)42593-3. 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. doi:10.1016/S0021-9258(19)42592-1. 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. doi:10.1016/S0021-9258(18)63261-2. 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 1686052. 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. hdl:2066/22100. PMID 7598760. S2CID 39351683.
  • 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. hdl:2066/22100. 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. S2CID 23119465.
  • 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. hdl:2027.42/71979. PMID 8484250. S2CID 43662514.
  • 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. doi:10.1182/blood.V88.7.2732.bloodjournal8872732. PMID 8839869.

See also edit

External links edit

  • Human ABO genome location and ABO gene details page in the UCSC Genome Browser.
  • Overview of all the structural information available in the PDB for UniProt: P16442 (Histo-blood group ABO system transferase) at the PDBe-KB.
 
Wikimedia Commons has media related to ABO (gene).

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


December 15, 2023
gene, histo, blood, group, system, transferase, enzyme, with, glycosyltransferase, activity, which, encoded, gene, humans, ubiquitously, expressed, many, tissues, cell, types, determines, blood, group, individual, modifying, oligosaccharides, cell, surface, gl. Histo blood group ABO system transferase is an enzyme with glycosyltransferase activity which is encoded by the ABO gene in humans 5 6 It is ubiquitously expressed in many tissues and cell types 7 ABO 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 The ABO gene also contains one of 27 SNPs associated with increased risk of coronary artery disease 8 ABOAvailable structuresPDBOrtholog search PDBe RCSBList of PDB id codes1LZ0 1LZ7 1LZI 1LZJ 1R7T 1R7U 1R7V 1R7X 1R7Y 1R80 1R81 1R82 1WSZ 1WT0 1WT1 1WT2 1WT3 1XZ6 1ZHJ 1ZI1 1ZI3 1ZI4 1ZI5 1ZIZ 1ZJ0 1ZJ1 1ZJ2 1ZJ3 1ZJO 1ZJP 2A8U 2A8W 2I7B 2O1F 2O1G 2O1H 2PGV 2RIT 2RIX 2RIY 2RIZ 2RJ0 2RJ1 2RJ4 2RJ5 2RJ6 2RJ7 2RJ8 2RJ9 2Y7A 3I0C 3I0D 3I0E 3I0F 3I0G 3I0H 3I0I 3I0J 3I0K 3I0L 3IOH 3IOI 3IOJ 3SX3 3SX5 3SX7 3SX8 3SXA 3SXB 3SXC 3SXD 3SXE 3SXG 3U0X 3U0Y 3V0L 3V0M 3V0N 3V0O 3V0P 3V0Q 3ZGF 4C2S 4KC1 4KC2 4KC4 3ZGG 4FQW 4FRA 4FRB 4FRD 4FRE 4FRH 4FRL 4FRO 4FRP 4FRQ 4GBP 4KXO 4Y62 4Y63 4Y64 5BXC 5C1G 5C1H 5C1L 5C36 5C38 5C3A 5C3B 5C3D 5C47 5C48 5C49 5C4B 5C4C 5C4D 5C4E 5C4F 5C8R 5CMI 2PGYIdentifiersAliasesABO A3GALNT A3GALT1 GTB NAGAT ABO blood group transferase A alpha 1 3 N acetylgalactosaminyltransferase transferase B alpha 1 3 galactosyltransferase alpha 1 3 N acetylgalactosaminyltransferase and alpha 1 3 galactosyltransferaseExternal IDsOMIM 110300 MGI 2135738 HomoloGene 69306 GeneCards ABOEC number2 4 1 37 2 4 1 40 2 4 1 37Gene location Human Chr Chromosome 9 human 1 Band9q34 2Start133 233 278 bp 1 End133 276 024 bp 1 Gene location Mouse Chr Chromosome 2 mouse 2 Band2 2 A3Start26 732 515 bp 2 End26 754 991 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed intransverse colonsural nervetendonTop expressed insubmandibular glandlacrimal glandmorulaparotid glandspermatocyteesophagusseminal vesiculablastocystlarge intestinecolonMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functiontransferase activity hexosyltransferase activity metal ion binding fucosylgalactoside 3 alpha galactosyltransferase activity glycoprotein fucosylgalactoside alpha N acetylgalactosaminyltransferase activity glycosyltransferase activity nucleotide binding antigen binding manganese ion bindingCellular componentintegral component of membrane extracellular region Golgi cisterna membrane membrane Golgi apparatus vesicleBiological processprotein glycosylation glycolipid biosynthetic process lipid glycosylation carbohydrate metabolic processSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez2880908EnsemblENSG00000175164ENSG00000281879ENSMUSG00000015787UniProtP16442P38649RefSeq mRNA NM 020469NM 030718NM 001290444RefSeq protein NP 065202NP 001277373NP 109643Location UCSC Chr 9 133 23 133 28 MbChr 2 26 73 26 75 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Alleles 1 1 Common alleles 2 Clinical significance 2 1 Clinical marker 3 References 4 Further reading 5 See also 6 External linksAlleles editThe ABO gene resides on chromosome 9 at the band 9q34 2 and contains 7 exons 6 The ABO locus encodes three alleles that is 3 variants of the same gene One allele is derived from each parent The A allele produces a 1 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 a 1 3 galactosyl 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 9 The O allele lacks both enzymatic activities because of the frameshift caused by a deletion of guanine 258 in the gene which corresponds to a region near the N terminus of the protein 10 This results in a frameshift and thus of a truncated protein of only 117 amino acids 9 11 The truncated protein is 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 These antigens play an important role in the match of blood transfusion and organ transplantation 9 Other minor alleles have been found for this gene 6 Common alleles edit Further information ABO blood group system Distribution and evolutionary history 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 12 13 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 significance editIn human cells the ABO alleles and their encoded glycosyltransferases have been described in several oncologic conditions 14 Using anti GTA GTB monoclonal antibodies it was demonstrated that a loss of these enzymes was correlated to malignant bladder and oral epithelia 15 16 Furthermore the expression of ABO blood group antigens in normal human tissues is dependent upon the type of differentiation of the epithelium In most human carcinomas including oral carcinoma a significant event as part of the underlying mechanism is decreased expression of the A and B antigens 17 Several studies have observed that a relative down regulation of GTA and GTB occurs in oral carcinomas in association with tumor development 17 18 More recently a genome wide association study GWAS has identified variants in the ABO locus associated with susceptibility to pancreatic cancer 19 20 Clinical marker edit A multi locus genetic risk score study based on a combination of 27 loci including the ABO gene identified individuals at increased risk for both incident and recurrent coronary artery disease events as well as an enhanced clinical benefit from statin therapy The study was based on a community cohort study the Malmo Diet and Cancer study and four additional randomized controlled trials of primary prevention cohorts JUPITER and ASCOT and secondary prevention cohorts CARE and PROVE IT TIMI 22 8 References edit a b c ENSG00000281879 GRCh38 Ensembl release 89 ENSG00000175164 ENSG00000281879 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000015787 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine 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 S2CID 12384399 a b c Entrez Gene ABO ABO blood group transferase A alpha 1 3 N acetylgalactosaminyltransferase transferase B alpha 1 3 galactosyltransferase BioGPS your Gene Portal System biogps org Retrieved 2016 10 11 a b Mega JL Stitziel NO Smith JG Chasman DI Caulfield MJ Devlin JJ Nordio F Hyde CL Cannon CP Sacks FM Poulter NR Sever PS Ridker PM Braunwald E Melander O Kathiresan S Sabatine MS June 2015 Genetic risk coronary heart disease events and the clinical benefit of statin therapy an analysis of primary and secondary prevention trials Lancet 385 9984 2264 71 doi 10 1016 S0140 6736 14 61730 X PMC 4608367 PMID 25748612 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 Bibcode 1990Natur 345 229Y doi 10 1038 345229a0 PMID 2333095 S2CID 4237562 Iwamoto S Kumada M Kamesaki T Okuda H Kajii E Inagaki T Saikawa D Takeuchi K Ohkawara S Takahashi R Ueda S Inoue S Tahara K Hakamata Y Kobayashi E 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 ABO Histo blood group ABO system transferase Homo sapiens Human ABO gene amp protein www uniprot org Retrieved 2021 12 06 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 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 S2CID 12076999 Goldman M February 2007 Translational mini review series on Toll like receptors Toll like receptor ligands as novel pharmaceuticals for allergic disorders Clinical and Experimental Immunology 147 2 208 16 doi 10 1111 j 1365 2249 2006 03296 x PMC 1810467 PMID 17223960 Kay HE November 1982 Bone marrow transplantation 1982 British Medical Journal 285 6351 1296 8 doi 10 1136 bmj 285 6351 1296 PMC 1500229 PMID 6812684 Hakomori S December 1999 Antigen structure and genetic basis of histo blood groups A B and O their changes associated with human cancer Biochimica et Biophysica Acta BBA General Subjects 1473 1 247 66 doi 10 1016 s0304 4165 99 00183 x PMID 10580143 a b Dabelsteen E Gao S January 2005 ABO blood group antigens in oral cancer Journal of Dental Research 84 1 21 8 doi 10 1177 154405910508400103 PMID 15615870 S2CID 16975373 Dabelsteen E February 2002 ABO blood group antigens in oral mucosa What is new Journal of Oral Pathology amp Medicine 31 2 65 70 doi 10 1046 j 0904 2512 2001 00004 x PMID 11896825 Amundadottir LT 2016 01 01 Pancreatic Cancer Genetics International Journal of Biological Sciences 12 3 314 25 doi 10 7150 ijbs 15001 PMC 4753160 PMID 26929738 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 2839871 PMID 19648918 Further reading editNagai M Dave 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 doi 10 1016 S0021 9258 17 38216 9 PMID 618875 Takeya A Hosomi O Shimoda N Yazawa S September 1992 Biosynthesis of the blood group P antigen like GalNAc beta 1 gt 3Gal beta 1 gt 4GlcNAc Glc structure a novel N acetylgalactosaminyltransferase in human blood plasma Journal of Biochemistry 112 3 389 95 doi 10 1093 oxfordjournals jbchem a123910 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 doi 10 1016 S0021 9258 19 40169 5 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 doi 10 1016 S0021 9258 19 40170 1 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 doi 10 1016 S0021 9258 17 30652 X PMID 2121736 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 doi 10 1016 S0021 9258 19 42593 3 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 doi 10 1016 S0021 9258 19 42592 1 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 doi 10 1016 S0021 9258 18 63261 2 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 1686052 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 hdl 2066 22100 PMID 7598760 S2CID 39351683 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 hdl 2066 22100 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 S2CID 23119465 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 hdl 2027 42 71979 PMID 8484250 S2CID 43662514 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 doi 10 1182 blood V88 7 2732 bloodjournal8872732 PMID 8839869 See also editRHD gene External links editHuman ABO genome location and ABO gene details page in the UCSC Genome Browser Overview of all the structural information available in the PDB for UniProt P16442 Histo blood group ABO system transferase at the PDBe KB nbsp Wikimedia Commons has media related to ABO gene This article incorporates text from the United States National Library of Medicine which is in the public domain Retrieved from https en wikipedia org w index php title ABO gene amp oldid 1189259826, wikipedia, wiki, book, books, library,

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