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

Tissue Antigens. 2004 Feb;63(2):173-80. doi: 10.1111/j.1399-0039.2004.00134.x.

Abstract

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3' Untranslated Regions
  • Alleles
  • Alternative Splicing*
  • Antigen Presentation
  • Bone Marrow / metabolism
  • Chromosome Segregation
  • DNA, Complementary / genetics
  • Exons / genetics*
  • Female
  • Flow Cytometry
  • Gene Deletion*
  • Genetic Variation*
  • HLA-B Antigens / genetics*
  • HLA-B Antigens / immunology
  • HLA-B Antigens / metabolism
  • HLA-B44 Antigen
  • Humans
  • Isoelectric Focusing
  • Male
  • Molecular Sequence Data
  • Mutation / genetics*
  • Polymerase Chain Reaction
  • Promoter Regions, Genetic / genetics

Substances

  • 3' Untranslated Regions
  • DNA, Complementary
  • HLA-B Antigens
  • HLA-B44 Antigen

Associated data

  • GENBANK/AF384095