PMID- 14705988
OWN - NLM
STAT- MEDLINE
DCOM- 20040826
LR  - 20190827
IS  - 0001-2815 (Print)
IS  - 0001-2815 (Linking)
VI  - 63
IP  - 2
DP  - 2004 Feb
TI  - A new HLA-B44 allele (B*44020102S) with a splicing mutation leading to a complete 
      deletion of exon 5.
PG  - 173-80
AB  - Using a combination of serology and polymerase chain reaction with 
      sequence-specific primer (PCR-SSP), we have identified in a volunteer bone marrow 
      donor a new HLA class I antigen within the B44 serotype. This human leukocyte 
      antigen (HLA)-B44 variant was typed as 'blank' by microlymphocytotoxicity, 
      whereas the B*44020101 allele was identified by PCR-SSP. A family study confirmed 
      the Mendelian segregation of this blank antigen identified on one of the maternal 
      haplotype transmitted to her child. The DNA sequence of B*44new, now referred to 
      as B*44020102S, performed from the promoter region to the 3' untranslated region 
      revealed a single nucleotide difference (A/G) compared to B*44020101 at the end 
      of intron 4 in the acceptor-splicing site. This mutation leads to an incorrect 
      splicing characterized by the deletion of exon 5 that encodes the transmembrane 
      domain of the HLA antigen. Indeed, full-length complementary DNA sequencing 
      revealed a complete absence of exon 5. Fluorescence-activated cell sorter 
      analysis confirmed the absence of expression of HLA-B44 on the cell surface in 
      the donor, compared to the HLA-B44 positive control. The isoelectric focusing 
      analysis failed to reveal the presence of an HLA-B44 antigen in the donor, 
      showing that no normal HLA-B*44020101 allele was synthesized. The new 
      B*440201010102S allele is a soluble form of B44 without any detectable 
      cell-surface expression. It can thus be considered as a soluble antigen, a form 
      apparently inactive and unfit for antigen presentation.
FAU - Dubois, V
AU  - Dubois V
AD  - Histocompatibility Laboratory, EFS Rhone-Alpes, Lyon, France.
FAU - Tiercy, J M
AU  - Tiercy JM
FAU - Labonne, M P
AU  - Labonne MP
FAU - Dormoy, A
AU  - Dormoy A
FAU - Gebuhrer, L
AU  - Gebuhrer L
LA  - eng
SI  - GENBANK/AF384095
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Tissue Antigens
JT  - Tissue antigens
JID - 0331072
RN  - 0 (3' Untranslated Regions)
RN  - 0 (DNA, Complementary)
RN  - 0 (HLA-B Antigens)
RN  - 0 (HLA-B44 Antigen)
SB  - IM
MH  - 3' Untranslated Regions
MH  - Alleles
MH  - *Alternative Splicing
MH  - Antigen Presentation
MH  - Bone Marrow/metabolism
MH  - Chromosome Segregation
MH  - DNA, Complementary/genetics
MH  - Exons/*genetics
MH  - Female
MH  - Flow Cytometry
MH  - *Gene Deletion
MH  - *Genetic Variation
MH  - HLA-B Antigens/*genetics/immunology/metabolism
MH  - HLA-B44 Antigen
MH  - Humans
MH  - Isoelectric Focusing
MH  - Male
MH  - Molecular Sequence Data
MH  - Mutation/*genetics
MH  - Polymerase Chain Reaction
MH  - Promoter Regions, Genetic/genetics
EDAT- 2004/01/07 05:00
MHDA- 2004/08/27 05:00
CRDT- 2004/01/07 05:00
PHST- 2004/01/07 05:00 [pubmed]
PHST- 2004/08/27 05:00 [medline]
PHST- 2004/01/07 05:00 [entrez]
AID - 134 [pii]
AID - 10.1111/j.1399-0039.2004.00134.x [doi]
PST - ppublish
SO  - Tissue Antigens. 2004 Feb;63(2):173-80. doi: 10.1111/j.1399-0039.2004.00134.x.