An Alu-mediated large deletion of the FUT2 gene in individuals with the ABO-Bombay phenotype

Human Genetics

Volumn 106, Issue 1, 2000, Pages 80-85

  Koda, Yoshiro ^a   Soejima, Mikiko ^a   Johnson, Philip H ^b,c   Smart, Elizabeth ^d   Kimura, Hiroshi ^a  

^a KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF GLASGOW   (United Kingdom)

^c National Heart and Lung Institute ^*  (United Kingdom)

^d Natal Blood Transfusion Service   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

FUCOSYLTRANSFERASE;

ALLELE; ALU SEQUENCE; ARTICLE; BLOOD GROUP ABO SYSTEM; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; DNA STRAND BREAKAGE; ENZYME DEFICIENCY; EXON; GENE CASSETTE; GENE DELETION; HUMAN; HUMAN CELL; INDIA; INTRON; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

3' UNTRANSLATED REGIONS; ABO BLOOD-GROUP SYSTEM; ALLELES; ALU ELEMENTS; BASE SEQUENCE; CLONING, MOLECULAR; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EXONS; FUCOSYLTRANSFERASES; GENE DELETION; HUMANS; INTRONS; LINKAGE (GENETICS); MODELS, GENETIC; MOLECULAR SEQUENCE DATA; PHENOTYPE; PHYSICAL CHROMOSOME MAPPING; POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 0034103155     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390051013     Document Type: Article

References (26)

1. Bhatia HM, Sanghvi LD (1962) Rare blood groups and consanguinity: Bombay phenotype. Vox Sang 7:245-248
2. Clausen H, Hakomori S (1989) ABH and related histo-blood group antigens: immunochemical differences in carrier isotypes and their distribution. Vox Sang 56:1-20
3. Daniels G (1995) Human blood groups. Blackwell Science, Oxford
4. Fernandez-Mateos P, Cailleau A, Henry S, Costache M, Elmgren A, Svensson L, Lurson G, Samuelsson BE, Oriol R, Mollicone R (1998) Point mutations and deletions responsible for the Bombay H null and the Reunion H weak blood groups. Vox Sang 75:37-46
5. Hwu HR, Roberts JW, Davidson EH, Britten RJ (1986) Insertion and/or deletion of many repeated DNA sequences in human and high ape evolution. Proc Natl Acad Sci USA 83:3875-3879
6. Kaneko M, Nishihara S, Shinya N, Kudo T, Iwasaki H, Seno T, Okubo Y, Narimatsu H (1997) Wide variety of point mutations in the H gene of Bombay and para-Bombay individuals that inactivate H enzyme. Blood 90:839-849
7. Kelly RJ, Ernst LK, Larsen RD, Bryant JD, Robinson JS, Lowe JB (1994) Molecular basis for H blood group deficiency in Bombay (Oh) and para-Bombay individuals. Proc Natl Acad Sci USA 91:5843-5847
8. Kelly RJ, Rouquier S, Giorgi D, Lennon GG, Lowe JB (1995) Sequence and expression of a candidate for the human secretor blood group α(1,2)-fucosyltransferase gene (FUT2): homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the non-secretor phenotype. J Biol Chem 270:4640-4649
9. Koda Y, Soejima M, Liu Y-H, Kimura H (1996) Molecular basis for secretor type α(1,2)-fucosyltransferase gene deficiency in a Japanese population: a fusion gene generated by unequal crossover responsible for the enzyme deficiency. Am J Hum Genet 59:343-350
10. Koda Y, Soejima M, Kimura H (1997a) Structure and expression of the gene encoding secretor-type galactoside 2-α-L-fucosyltransferase (FUT2). Em J Biochem 246:750-755
11. Koda Y, Soejima M, Johnson PH, Smart E, Kimura H (1997b) Missense mutation of FUT1 and deletion of FUT2 are responsible for Indian Bombay phenotype of ABO blood group system. Biochem Biophys Res Commun 238:21-25
12. Larsen RD, Ernst LK, Nair RP, Lowe JB (1990) Molecular cloning, sequence, and expression of human GDP-L-fucose: β-D-galactoside 2-α-L-fucosyltransferase cDNA that can form the H group antigen. Proc Natl Acad Sci USA 87:6674-6678
13. Liu Y-H, Fujitani N, Koda Y, Kimura H (1998a) Distribution of H type 1 and of H type 2 antigens of ABO blood group in different cells of human submandibular gland. J Histochem Cytochem 46:69-76
14. Liu Y-H, Koda Y, Soejima M, Pang H, Schlaphoff T, Toit ED du, Kimura H (1998b) Extensive polymorphism of the FUT2 gene in an African (Xhosa) population of South Africa. Hum Genet 103:204-210
15. Liu Y-H, Fujilani N, Koda Y, Soejima M, Kimura H (1999a) Presence of H type 3/4 chains of ABO histo-blood group system in serous cells of human submandibular gland and regulation of their expression by the secretor gene (FUT2). J Histochem Cytochem 47:889-894
16. Liu Y-H, Koda Y, Soejima M, Pang H, Wang B-J, Kim D-S, Oh H-B, Kimura H (1999b) The fusion gene at the ABO-Secretor locus (FUT2): absence in Chinese populations. J Hum Genet 44:181-184
17. Nyström-Lahti M, Kristo P, Nicolaides NC, Chang S-Y, Aaltonen LA, Moisio A-L, Järvinen HJ, Mecklin JP, Kinzler KW, Vogelstein B, Chapella A de la, Peltomäki P (1995) Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nat Med 1:1203-1206
18. Oriol R, Le Pendu J, Mollicone R (1986) Genetics of ABO, H, Lewis, X and related antigens. Vox Sang 51:161-171
19. Petrij-Bosch A, Peelen T, Vliet M van, Eijk R van, Olmer R, Drüsedau M, Hogervorst FBL, Hageman S, Arts PJ, Ligtenberg MJL, Meijers-Heijboer H, Klijn JGM, Vasen HFA, Cornelisse CJ, Veer LJ van't, Bakker E, Ommen G-JB van, Devilee P (1997) BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet 17:341-345
20. Puget N, Torchard D, Serova-Sinilnikova OM, Lynch HT, Feunteun J, Lenoir GM, Mazoyer S (1997) A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17. Cancer Res 57:828-831
21. Rouquier S, Lowe JB, Kelly RJ, Fertitta AL, Lennon GG, Giorgi D (1995) Molecular cloning of a human genomic region containing the H blood group α(1,2)fucosyltransferase gene and two H locus-related DNA restriction fragments: isolation of a candidate for the human secretor blood group locus. J Biol Chem 270:4632-1639
22. Rudiger NS, Gregerse N, Kielland-Brandl MC (1995) One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi. Nucleic Acids Res 23:256-260
23. Wang B, Koda Y, Soejima M, Kimura H (1997) Two missense mutations of H type α(1,2)fucosyltransferase gene (FUT1) responsible for para-Bombay phenotype. Vox Sang 72:31-35
24. Wagner FF, Flegel WA (1997) Polymorphism of the h allele and the population frequency of sporadic nonfunctional alleles. Transfusion 37:284-290
25. Watkins WM (1995). Molecular basis of antigenic specificity in the ABO, H and Lewis blood group systems. In: Montreuil J, Vliegenhart JFG, Schachter H (eds) Glycoproteins. Elsevier, Amsterdam, pp 313-390
26. Yu L-C, Broadberry RE, Yang Y-H, Chen Y-H, Lin M (1996) Heterogeneity of the human secretor α(1,2)fucosyltransferase gene among Lewis(a+b-) non-secretors. Biochem Biophys Res Commun 222:390-394