Entry - *142856 - MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DM BETA; HLA-DMB - OMIM
 
* 142856

MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DM BETA; HLA-DMB


Alternative titles; symbols

HLA-DM HISTOCOMPATIBILITY TYPE, BETA CHAIN
HLADMB
RING7


HGNC Approved Gene Symbol: HLA-DMB

Cytogenetic location: 6p21.32     Genomic coordinates (GRCh38): 6:32,934,636-32,941,028 (from NCBI)


TEXT

Cloning and Expression

Kelly et al. (1991) isolated 2 class II-like cDNAs, RING6 (HLA-DMA; 142855) and RING7. The structure of the genes indicated that they are novel members of the immunoglobulin gene family, which may have diverged before the duplications that gave rise to the main class II loci. Kelly et al. (1991) concluded that the RING6 and RING7 genes encode the alpha- and beta-chains of a previously undiscovered class II-related protein. The genes are highly conserved between human and mouse (Cho et al., 1991).


Gene Function

Morris et al. (1994) and Fling et al. (1994) presented evidence that the HLA-DMA and -DMB genes are both required for the normal assembly of peptides with MHC class II molecules. HLA-DMA and -DMB appear to encode subunits of a functional heterodimer that is critical in the pathway of class II antigen presentation.


Mapping

Kelly et al. (1991) identified the HLA-DMB gene in the MHC class II region on chromosome 6p21.3. Using restriction analysis, they demonstrated that HLA-DMA and HLA-DMB map between HLA-DN-alpha (142930) and HLA-DO-beta (142940).

Morris et al. (1994) and Fling et al. (1994) demonstrated that the HLA-DMA and HLA-DMB genes map between HLA-DP (142880) and HLA-DQ (146880) on chromosome 6p21.3. The mapping was achieved by study of MHC deletion mutants (Kelly et al., 1991).


REFERENCES

  1. Cho, S., Attaya, M., Monaco, J. J. New class II-like genes in the murine MHC. Nature 353: 573-576, 1991. [PubMed: 1922366, related citations] [Full Text]

  2. Fling, S. P., Arp, B., Pious, D. HLA-DMA and -DMB genes are both required for MHC class II/peptide complex formation in antigen-presenting cells. Nature 368: 554-558, 1994. [PubMed: 8139690, related citations] [Full Text]

  3. Kelly, A. P., Monaco, J. J., Cho, S., Trowsdale, J. A new human HLA class II-related locus, DM. Nature 353: 571-573, 1991. [PubMed: 1922365, related citations] [Full Text]

  4. Morris, P., Shaman, J., Attaya, M., Amaya, M., Goodman, S., Bergman, C., Monaco, J. J., Mellins, E. An essential role for HLA-DM in antigen presentation by class II major histocompatibility molecules. Nature 368: 551-554, 1994. [PubMed: 8139689, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 2/3/1993
alopez : 07/28/2014
mark : 10/25/1996
jason : 7/14/1994
carol : 2/3/1993

* 142856

MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DM BETA; HLA-DMB


Alternative titles; symbols

HLA-DM HISTOCOMPATIBILITY TYPE, BETA CHAIN
HLADMB
RING7


HGNC Approved Gene Symbol: HLA-DMB

Cytogenetic location: 6p21.32     Genomic coordinates (GRCh38): 6:32,934,636-32,941,028 (from NCBI)


TEXT

Cloning and Expression

Kelly et al. (1991) isolated 2 class II-like cDNAs, RING6 (HLA-DMA; 142855) and RING7. The structure of the genes indicated that they are novel members of the immunoglobulin gene family, which may have diverged before the duplications that gave rise to the main class II loci. Kelly et al. (1991) concluded that the RING6 and RING7 genes encode the alpha- and beta-chains of a previously undiscovered class II-related protein. The genes are highly conserved between human and mouse (Cho et al., 1991).


Gene Function

Morris et al. (1994) and Fling et al. (1994) presented evidence that the HLA-DMA and -DMB genes are both required for the normal assembly of peptides with MHC class II molecules. HLA-DMA and -DMB appear to encode subunits of a functional heterodimer that is critical in the pathway of class II antigen presentation.


Mapping

Kelly et al. (1991) identified the HLA-DMB gene in the MHC class II region on chromosome 6p21.3. Using restriction analysis, they demonstrated that HLA-DMA and HLA-DMB map between HLA-DN-alpha (142930) and HLA-DO-beta (142940).

Morris et al. (1994) and Fling et al. (1994) demonstrated that the HLA-DMA and HLA-DMB genes map between HLA-DP (142880) and HLA-DQ (146880) on chromosome 6p21.3. The mapping was achieved by study of MHC deletion mutants (Kelly et al., 1991).


REFERENCES

  1. Cho, S., Attaya, M., Monaco, J. J. New class II-like genes in the murine MHC. Nature 353: 573-576, 1991. [PubMed: 1922366] [Full Text: https://doi.org/10.1038/353573a0]

  2. Fling, S. P., Arp, B., Pious, D. HLA-DMA and -DMB genes are both required for MHC class II/peptide complex formation in antigen-presenting cells. Nature 368: 554-558, 1994. [PubMed: 8139690] [Full Text: https://doi.org/10.1038/368554a0]

  3. Kelly, A. P., Monaco, J. J., Cho, S., Trowsdale, J. A new human HLA class II-related locus, DM. Nature 353: 571-573, 1991. [PubMed: 1922365] [Full Text: https://doi.org/10.1038/353571a0]

  4. Morris, P., Shaman, J., Attaya, M., Amaya, M., Goodman, S., Bergman, C., Monaco, J. J., Mellins, E. An essential role for HLA-DM in antigen presentation by class II major histocompatibility molecules. Nature 368: 551-554, 1994. [PubMed: 8139689] [Full Text: https://doi.org/10.1038/368551a0]


Creation Date:
Victor A. McKusick : 2/3/1993

Edit History:
alopez : 07/28/2014
mark : 10/25/1996
jason : 7/14/1994
carol : 2/3/1993