HGNC Approved Gene Symbol: HMSD
Cytogenetic location: 18q22.1 Genomic coordinates (GRCh38): 18:63,949,301-63,969,648 (from NCBI)
Kawase et al. (2007) identified a novel HLA-B44-restricted minor histocompatibility antigen (mHA) recognized by a cytotoxic T-lymphocyte (CTL) line and selectively expressed in hematopoietic cells. By cDNA expression cloning studies and database analysis, they identified HMSD as the gene encoding the mHA (see MOLECULAR GENETICS). RT-PCR showed that HMSD was selectively expressed at higher levels in mature dendritic cells and primary leukemia cells, particularly those of myeloid lineage. In contrast, most normal tissues and resting hematopoietic cells showed low or no expression, except for testis, where expression was moderate.
Kawase et al. (2007) determined that the HMSD gene contains 4 exons.
Kawase et al. (2007) stated that the HMSD gene maps to chromosome 18q21.33.
Kawase et al. (2007) identified a novel HLA-B44-restricted mHA whose expression was limited to hematopoietic cells. cDNA expression cloning studies demonstrated that the cDNA encoding the mHA was an allelic splice variant of HMSD that Kawase et al. (2007) designated HMSDv. HMSDv resulted from a SNP in intron 2 of HMSD, a G-to-A substitution at nucleotide +5 (IVS2+5G-A; rs9945924), that led to skipping of exon 2. Minigene analysis identified the HLA-B*4403-restricted epitope of HMSDv, and Kawase et al. (2007) designated the mHA ACC6. RT-PCR analysis showed that, like HMSD, HMSDv was selectively expressed at higher levels in mature dendritic cells and primary leukemia cells, particularly those of myeloid lineage. Engraftment of mHA-expressing myeloid leukemia stem cells into nonobese diabetic/severe combined immunodeficient/Il2rg (308380)-null mice was inhibited by preincubation with patient posttransplant CTLs, but not pretransplant CTLs. Kawase et al. (2007) proposed that the HMSDv-encoded mHA may be a target for immunotherapy in hematologic malignancies.
Kawase, T., Akatsuka, Y., Torikai, H., Morishima, S., Oka, A., Tsujimura, A., Miyazaki, M., Tsujimura, K., Miyamura, K., Ogawa, S., Inoko, H., Morishima, Y., Kodera, Y., Kuzushima, K., Takahashi, T. Alternative splicing due to an intronic SNP in HMSD generates a novel minor histocompatibility antigen. Blood 110: 1055-1063, 2007. [PubMed: 17409267] [Full Text: https://doi.org/10.1182/blood-2007-02-075911]