A new HLA-B44 allele (B*44020102S) with a splicing mutation leading to a complete deletion of exon 5

Tissue Antigens

Volumn 63, Issue 2, 2004, Pages 173-180

  Dubois, V ^a   Tiercy, J M ^b   Labonne, M P ^a   Dormoy, A ^a   Gebuhrer, L ^a  

^a ETABLISSEMENT FRANÇAIS DU SANG   (France)

^b UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

Deletion exon 5; HLA B*44020102S; HLA soluble antigen; Soluble antigens; Splicing

Indexed keywords

ANTIGEN; COMPLEMENTARY DNA; DNA; HLA ANTIGEN; HLA ANTIGEN CLASS 1; HLA B44 ANTIGEN; NUCLEOTIDE;

3' UNTRANSLATED REGION; ALLELE; ANTIGEN EXPRESSION; ARTICLE; BINDING SITE; BONE MARROW; CELL SURFACE; CONTROLLED STUDY; DNA SEQUENCE; DONOR; EXON; FAMILY; FEMALE; FLUORESCENCE ACTIVATED CELL SORTING; GENE DELETION; GENE MUTATION; GENETIC CODE; HAPLOTYPE; HUMAN; INTRON; LYMPHOCYTOTOXICITY; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; RNA SPLICING; SEQUENCE ANALYSIS; SEROLOGY; SEROTYPE; SYNTHESIS;

3' UNTRANSLATED REGIONS; ALLELES; ALTERNATIVE SPLICING; ANTIGEN PRESENTATION; BONE MARROW; CHROMOSOME SEGREGATION; DNA, COMPLEMENTARY; EXONS; FEMALE; FLOW CYTOMETRY; GENE DELETION; HLA-B ANTIGENS; HUMANS; ISOELECTRIC FOCUSING; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; PROMOTER REGIONS (GENETICS); VARIATION (GENETICS);

EID: 1642431996     PISSN: 00012815     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0039.2004.00134.x     Document Type: Article

References (44)

1. Zinkernagel RM, Doherty PC. MHC restricted cytotoxic T cells. Studies on the biological role of polymorphic major transplantation antigens determining T-cell restriction, specificity, function and responsiveness. Adv Immunol 1979: 27: 51-177.
2. Klein J, Sato A. The HLA system: first of two parts. N Engl J Med 2000: 343: 702-9.
3. Koller BH, Orr HT. Cloning and complete sequence of an HLA-A2 gene: analysis of two HLA-A alleles at the nucleotide level. J Immunol 1985: 134: 2727-33.
4. N'Guyen C, Sodoyer R, Trucy J, Strachan T, Jordan BR. The HLA-AW24 gene: sequence, surroundings and comparison with the HLA-A2 and HLA-A3 genes. Immunogenetics 1985: 21: 479-89.
5. Marsh SG. Nomenclature for factors of the HLA system, update march 2002. Tissue Antigens 2002: 59: 239-40.
6. Dormoy A, Hanau D, Cazenave JP, Tongio MM. Non expressed HLA alleles. In: Hansen J, ed. HLA 2002 - Immunobiology of the human MHC. Proceedings of the 13th International Histocompatibility Workshop and Conference. Seattle: IHWG Press, (in press).
7. Ishikawa Y, Tonukaga K, Tanaka H et al. HLA-A null allele with a stop codon, HLA-A*0215N identified in a homozygous state in a healthy adult. Immunogenetics 1995: 43: 1-5.
8. Lienert K, Russ G, Lester S, Bennett G, Gao X, McCluskey J. Stable inheritance of an HLA blank phenotype associated with a structural mutation in the HLA-A*0301 gene. Tissue Antigens 1996: 48: 187-91.
9. Laforet M, Froelich N, Parissiadis A et al. A nucleotide insertion in exon 4 is responsible for the absence of expression of an HLA-A*01 allele. Tissue Antigens 1997: 50: 347-50.
10. Mine H, Ishikawa Y, Hojo M et al. An HLA-B null allele (B*1526N) with a stop codon in exon 3 generated by a point mutation. Tissue Antigens 1997: 50: 351-4.
11. Williams F, Curran MD, Middleton D. Detection of HLA-A*24 null alleles by DNA typing methods. Tissue Antigens 1998: 52: 208-12.
12. Laforet M, Froelich N, Parissiadis A et al. A null HLA-A*68 allele in a bone marrow donor. Tissue Antigens 1999: 53: 573-5.
13. Curran MD, Williams F, Little AM, Rima BK, Madrigal JA, Middleton D. Aberrant splicing of intron 1 creates a novel null HLA-B*1501 allele. Tissue Antigens 1999: 53: 244-52.
14. Tamouza R, Sadki K, Schaeffner V et al. A novel HLA-B null allele (B*4022N) generated by a non sense codon in the α1 domain. Tissue Antigens 2000: 55: 378-80.
15. Bunce M, Procter J, Dunn PPJ, Day S, Ross J, Welsh KI. Identification of the null HLA-A2 allele, A*0232N. Tissue Antigens 2000: 55: 31-6.
16. Carter V, Dunn PPJ, Cavanagh G, Day S, Ross J, Chapman C. An HLA-B null allele (B*0808N) caused by a nucleotide deletion in exon 3, found in the family of a bone marrow transplant recipient. Tissue Antigens 2000: 55: 61-4.
17. Bettens F, Tiercy JM. Sequence of a new class I null allele within the B44 specificity. Tissue Antigens 2000: 56: 441-5.
18. DenHollander N, Li J, Van Oosterwijk A, Ng CM, Singal DP. Identification of a new HLA-B null allele, B*1817 in a family. Tissue Antigens 2002: 59: 341-3.
19. Wu GG, Cheng LH, Deng ZH et al. Cloning and complete sequence of a novel HLA-A null allele, A*0253N with a termination codon generated by a C to G mutation in exon 2. Tissue Antigens 2002: 59: 328-30.
20. Bétuel H, Gebuhrer L, Lambert J, Freidel AC, Farre A. A possible new HLA DR allele. Hum Immunol 1983: 8: 227-37.
21. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988: 16: 1215.
22. Gebuhrer L, Adami N, Javaux F et al. Sequence of a new HLA DR4 allele with an unusual residue at position 88 that does not seem to affect T-cell allorecognition. Hum Immunol 1996: 51: 60-2.
23. Cereb N, Yang SY. The regulatory complex of HLA class I promoters exhibits locus specific conservation with limited allelic variation. J Immunol 1994: 152: 3873-83.
24. Cereb N, Maye P, Lee S, Kong Y, Yang SY. Locus specific amplification of HLA class I genes from genomic DNA: locus specific sequences in the first and third introns of HLA-A, B and C alleles. Tissue Antigens 1995: 45: 1-11.
25. Turner S, Ellexson ME, Hickman HD et al. Sequence based typing provides a new look at HLA-C diversity. J Immunol 1998: 161: 1405-13.
26. Yang SY. A standardised method for detection of HLA-A and HLA-B alleles by one dimensional isoelectric focusing (IEF) gel electrophoresis. In: Dupont E, ed. Immunobiology of HLA, Vol. 1. Histocompatibility Testing 1987. Berlin: Springer 1989, 332-5.
27. McDonald JC, Gelder FB, Aultman DF et al. HLA in human serum - Quantitation of class I by enzyme immunoassay. Transplantation 1992: 53: 445-9.
28. Krangel MS, Pious D, Strominger JL. Characterisation of a B lymphoblastoid cell line mutant that secretes HLA-A2. J Immunol 1984: 132: 2984-91.
29. Krangel MS. Secretion of HLA-A and B antigens via an alternative RNA splicing pathway. J Exp Med 1986: 163: 1173-90.
30. Turowski G, Kedzierka A. Soluble HLA class I antigens in serum of healthy individuals - population study. Med Sci Monit 2000: 6: 123-8.
31. Hagihara M, Shimura T, Yamamoto K, Takebe K, Munkhbat B, Tsuji K. Soluble HLA class I and class II in Japanese. Hum Immunol 1994: 40: 171-3.
32. McDonald JC, Adamashvili I. Soluble HLA: a review of the literature. Hum Immunol 1998: 59: 387-403.
33. Dobbe LM, Stam NJ, Neefjes JJ, Giphart MJ. Biochemical complexity of serum HLA class I molecules. Immunogenetics 1988: 27: 203-10.
34. Haga JA, She JX, Kao KJ. Biochemical characterization of 39 kDa class I histocompatibility antigen in plasma. A secretable membrane protein derived from transmembrane domain deletion. J Biol Chem 1991: 266: 3695-701.
35. d gene transcript. EMBO J 1984: 3: 2383-6.
36. Lalanne JL, Transy C, Guerin S et al. Expression of class I genes in the mouse major histocompatibility complex: identification of eight distinct mRNAs in DBA/2 mouse liver. Cell 1985: 41: 469-78.
37. Tijssen HJ, Sistermans EA, Joosten I. A unique second donor splice site in the intron 5 sequence of the HLA-A*11 alleles results in a class I transcript. Tissue Antigens 2000: 55: 422-8.
38. Watanabe Y, Magor KE, Parham P. Exon 5 encoding the transmembrane region of HLA-A contains a transitional region for the induction of nonsense mediated mRNA decay. J Immunol 2001: 167: 6901-11.
39. Laforet M, Froelich N, Parissiadis A, Bausinger H, Pfeiffer B, Tongio MM. Intronic mutation responsible for a low level of expression of an HLA-A*24 allele. Tissue Antigens 1997: 50: 340-6.
40. Magor KE, Taylor EJ, Shen SY et al. Natural inactivation of a common HLA allele (A*2402) has occurred on at least three separate occasions. J Immunol 1997: 158: 5242-50.
41. Zanone-Ramseier R, Gratwohl A, Gmur J, Roosnek E, Tiercy JM. Sequencing of two HLA-A blank alleles: implications in unrelated bone marrow donor matching. Transplantation 1999: 67: 1336-41.
42. Parham P. Filling in the blanks. Tissue Antigens 1997: 50: 318-21.
43. Carbone E, Terrazzano G, Colonna M, Tuosto L, Piccolella E, Franksson E et al. Natural killer clones recognize specific soluble HLA class I molecules. Eur J Immunol 1996: 26: 683-9.
44. Zavazava N, Kronke M. Soluble HLA class I molecules induce apoptosis in alloreactive cytotoxic T lymphocytes. Nat Med 1996: 2: 1005-10.