A novel HLA-b*39 allele (HLA-b*3916) due to a rare mutation causing cryptic splice site activation

Human Immunology

Volumn 61, Issue 5, 2000, Pages 467-473

  Tamouza, Ryad ^a   El Kassar, Nahed ^b   Schaeffer, Veronique ^a   Carbonnelle, Etienne ^a   Tatari, Zohreh ^a   Marzais, François ^a   Fortier, Catherine ^a   Poirier, Jean Claude ^a   Sadki, Khalid ^a,c   Bernaudin, Francoise ^d   Toubert, Antoine ^a   Krishnamoorthy, Rajagopal ^e   Charron, Dominique ^a  

^a SAINT LOUIS HOSPITAL   (France)

^b HENRI MONDOR HOSPITAL   (France)

^c FACULTÉ DES SCIENCES   (Morocco)

^d Hop Intercommunal de Créteil ^*  (France)

^e HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

2m; B*39 variant; Cryptic splice site; HLA B blank; Sickle cell disease

Indexed keywords

COMPLEMENTARY DNA; GLUTAMINE; HISTIDINE; HLA ANTIGEN CLASS 1; HLA B ANTIGEN; MESSENGER RNA; MUTANT PROTEIN;

ARTICLE; CASE REPORT; GENETIC ANALYSIS; HUMAN; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SEROTYPE; SICKLE CELL ANEMIA;

AMINO ACID SEQUENCE; BASE SEQUENCE; FEMALE; HLA-B ANTIGENS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; READING FRAMES; RNA SPLICING; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 0034048376     PISSN: 01988859     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0198-8859(00)00108-7     Document Type: Article

References (17)

1. Bodmer J.G., Marsh S.G., Albert E.D., Bodmer W.F., Bontrop R.E., Dupont B., Erlich H.A., Hansen J.A., Mach B., Mayr W.R., Parham P., Petersdorf E.W., Sasazuki T., Schreuder G.M., Strominger J.L., Svejgaard A., Terasaki P.I. Nomenclature for factors of the HLA System, 1998. Hum Immunol. 60:1999;361.
2. Marsh S.G.E. Nomenclature for factors of the HLA system, update September 1998. Tissue Antigens. 52:1998;592.
3. Wells R.S., Parham P. A novel recombinant HLA-B*39 allele (B*3910) in a South African zulu. Tissue Antigens. 48:1996;595.
4. Cereb N., Maye P., Lee S., Kong Y., Yang S.Y. 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. 45:1995;1.
5. Parham P. Filling in the blanks. Tissue Antigens. 50:1997;318.
6. Magor K.E., Taylor E.J., Shen Y.S., et al. Natural inactivation of a common HLA-A allele (A*2402) has occured on at least three separate occasions. J Immunol. 158:1997;5242.
7. Mine H., Ishikawa Y., Hojo M., Imashuku S., Tokunaga K., Juji T., Saji H., Yokoyama S. An HLA-B null allele (B*1526N) with a stop codon in exon 3 generated by a point mutation. Tissue Antigens. 50:1997;351.
8. Ishikawa Y., Tokunaga K., Tanaka H., Nishimura M., Muraoka M., Fujii Y., Akaza T., Tadokoro K., Juji T. HLA-A null allele with a stop codon, HLA-A*0215N, identified in a homozygous state in a healthy adult. Immunogenetics. 43:1996;1.
9. Laforet M., Froelich N., Parissiadis A., Pfeiffer B., Schell A., Faller B., Woehl-Jaegle M.L., Cazenave J.P., Tongio M.M. A nucleotide insertion in exon 4 is responsible for the absence of expression of an HLA-A*01 allele. Tissue Antigens. 50:1997;347.
10. Laforet M., Froelich N., Parissiadis A., Schell A., Pfeiffer B., Cazenave J.P., Tongio M.M. A null HLA-A*68 allele in a bone marrow donor. Tissue Antigens. 53:1999;573.
11. Laforet M., Froelich N., Parissiadis A., Bausinger H., Pfeiffer B., Tongio M.M. An intronic mutation responsible for a low level of expression of an HLA-A*24 allele. Tissue Antigens. 50:1997;340.
12. Balas A., Garcia-Sanchez F., Gomez-Reino F., Vicario J.L. HLA class I allele (HLA-A2) expression defect associated with a mutation in its enhancer B inverted CAT box in two families. Hum Immunol. 41:1994;69.
13. Lardy N.M., Bakas R.M., van der Horst A.R., van Twuyver E., Bontrop R.E., de Waal L.P. Cis-acting regulatory elements abrogate allele-specific HLA class I gene expression in healthy individuals. J Immunol. 148:1992;2572.
14. Bjorkman P., Saper M., Samraoui B., Bennett W., Strominger J., Wiley D. Structure of the human class I histocompatibility antigen, HLA-A2. Nature. 329:1987;506.
15. Saper M.A., Bjorkman P.J., Wiley D.C. Refined structure of the human histocompatibility antigen HLA-A2 at 2 6 Å resolution . J Mol Biol. 219:1991;277.
16. De Pablo R., Garcia-Pacheco J.M., Vilches C., Moreno M.E., Sanz L., Rementeria M.C., Puente S., Kreisler M. HLA-class I and class II allele distribution in the Bubi population from the island of Bioko (Equatorial Guinea). Tissue Antigens. 50:1997;593.
17. Yague J., Vasquez J., Lopez de Castro J.A. A single amino acid change makes the peptide specificity of B*3910 unrelated to B*3901 and closer to a group of HLA-B proteins including the malaria-protecting allotype HLA-B53. Tissue Antigens. 52:1998;416.