Alternative splicing due to an intronic SNP in HMSD generates a novel minor histocompatibility antigen

Blood. 2007 Aug 1;110(3):1055-63. doi: 10.1182/blood-2007-02-075911. Epub 2007 Apr 4.

Abstract

Here we report the identification of a novel human leukocyte antigen (HLA)-B44-restricted minor histocompatibility antigen (mHA) with expression limited to hematopoietic cells. cDNA expression cloning studies demonstrated that the cytotoxic T lymphocyte (CTL) epitope of interest was encoded by a novel allelic splice variant of HMSD, hereafter designated as HMSD-v. The immunogenicity of the epitope was generated by differential protein expression due to alternative splicing, which was completely controlled by 1 intronic single-nucleotide polymorphism located in the consensus 5' splice site adjacent to an exon. Both HMSD-v and HMSD transcripts were selectively expressed at higher levels in mature dendritic cells and primary leukemia cells, especially those of myeloid lineage. Engraftment of mHA(+) myeloid leukemia stem cells in nonobese diabetic/severe combined immunodeficient (NOD/SCID)/gammac(null) mice was completely inhibited by in vitro preincubation with the mHA-specific CTL clone, suggesting that this mHA is expressed on leukemic stem cells. The patient from whom the CTL clone was isolated demonstrated a significant increase of the mHA-specific T cells in posttransplantation peripheral blood, whereas mHA-specific T cells were undetectable in pretransplantation peripheral blood and in peripheral blood from his donor. These findings suggest that the HMSD-v-encoded mHA (designated ACC-6) could serve as a target antigen for immunotherapy against hematologic malignancies.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing / genetics*
  • Alternative Splicing / immunology
  • Animals
  • Cell Line, Tumor
  • DNA, Complementary / genetics
  • DNA, Complementary / immunology
  • Epitopes, T-Lymphocyte / genetics*
  • Epitopes, T-Lymphocyte / immunology
  • HLA-B Antigens / genetics
  • HLA-B Antigens / immunology
  • HLA-B44 Antigen
  • Humans
  • Immunotherapy
  • Leukemia, Myeloid / genetics*
  • Leukemia, Myeloid / immunology
  • Leukemia, Myeloid / therapy
  • Mice
  • Mice, Inbred NOD
  • Mice, SCID
  • Minor Histocompatibility Antigens / genetics*
  • Minor Histocompatibility Antigens / immunology
  • Neoplastic Stem Cells
  • Polymorphism, Single Nucleotide*
  • RNA Splice Sites
  • T-Lymphocytes, Cytotoxic / immunology

Substances

  • DNA, Complementary
  • Epitopes, T-Lymphocyte
  • HLA-B Antigens
  • HLA-B44 Antigen
  • Minor Histocompatibility Antigens
  • RNA Splice Sites