Illustration of an HLA-DR (Human MHC class II) antigen receptor with bound antigen
major histocompatibility complex, class II, DR53
Haplotypes DRA*01:DRB4*0101 DRA*01:DRB4*0102 DRA*01:DRB4*0103 DRA*01:DRB4*0104
Structure (See HLA-DR)
Identifiers
alpha *0101
Symbol(s) HLA-DRA
EBI-HLA DRA*0101
Identifiers
beta 4 *0101 *0102 *0103 *0104
Symbol(s) HLA-DRB4
EBI-HLA DRB4*0101
EBI-HLA DRB4*0102
EBI-HLA DRB4*0103
EBI-HLA DRB4*0104
Shared data
Locus chr.6 6p21.31

HLA-DR53 is an HLA-DR serotype that recognizes gene products of HLA-DRB4 locus. There are 13 alleles at this locus that encode 7 proteins.

DRB3, DRB4, and DRB5 are minor DR beta encoding loci, they have been recognized as having distinct evolution.[1] and the DRB4 locus presence is linked to HLA-DR7 seropositivity. The DRB4*locus was apparently duplicated from an ancestor of the DRB1-DRB4 common locus around 5 million years ago.[2]

DRB4 locus is only apparent in a small subset of DQ haplotypes, and most individuals lack DRB4. In addition the level of normal expression is 8 fold lower than the DRB1 in cells which can express both.[3] and lowered because of both transcriptional and post-transcriptional regulation.[4]

Alleles

DR53 recognition of some DRB4* alleles[5]
DRB4*DR53  ?Sample
allele % %size (N)
01019538
01038949

DR53 reactive alleles: DRB4*0101, *0103

Unknown reactivity: *0102, *0104 to *0107

Null alleles: *0101102N, *01030102N, *0201N, *0301N

Associated diseases

DRB4*01 is positively associated with Erythema multiforme,[6] Crohn's disease,[7] myasthenia gravis,[8] rheumatoid arthritis[9] Hashimoto's thyroiditis,[10] vitiligo,[11] primary biliary cirrhosis,[12] clozapine-induced agranulocytosis,[13] Vogt–Koyanagi–Harada disease,[14]

HLA-DRB1 linkage

HLA-DR53 serotypes (HLA-DRB4) is linked to the following HLADR serotypes (HLA-DRB1) allele groups:

HLA-DR4 - DRB1*04

HLA-DR7 - DRB1*07

HLA-DR9 - DRB1*09

References

  1. ↑ Gorski J, Rollini P, Mach B (1987). "Structural comparison of the genes of two HLA-DR supertypic groups: the loci encoding DRw52 and DRw53 are not truly allelic". Immunogenetics. 25 (6): 397–402. doi:10.1007/BF00396106. PMID 3596674. S2CID 25853147.
  2. ↑ Gyllensten U, Sundvall M, Ezcurra I, Erlich HA (1991). "Genetic diversity at class II DRB loci of the primate MHC". J. Immunol. 146 (12): 4368–76. doi:10.4049/jimmunol.146.12.4368. PMID 2040804.
  3. ↑ Stunz LL, Karr RW, Anderson RA (1989). "HLA-DRB1 and -DRB4 genes are differentially regulated at the transcriptional level". J. Immunol. 143 (9): 3081–6. doi:10.4049/jimmunol.143.9.3081. PMID 2809218.
  4. ↑ Leen MP, Gorski J (1996). "Differential expression of isomorphic HLA-DR beta genes is not a sole function of transcription". Hum. Immunol. 50 (2): 111–20. doi:10.1016/0198-8859(96)00154-1. PMID 8891734.
  5. ↑ derived from IMGT/HLA
  6. ↑ Lepage V, Douay C, Mallet C, et al. (1988). "Erythema multiforme is associated to HLA-Aw33 and DRw53". Tissue Antigens. 32 (3): 170–5. doi:10.1111/j.1399-0039.1988.tb01654.x. PMID 3217933.
  7. ↑ Kobayashi K, Atoh M, Yagita A, et al. (1990). "Crohn's disease in the Japanese is associated with the HLA-DRw53". Exp. Clin. Immunogenet. 7 (2): 101–8. PMID 2322470.
  8. ↑ Morita K, Moriuchi J, Inoko H, Tsuji K, Arimori S (1991). "HLA class II antigens and DNA restriction fragment length polymorphism in myasthenia gravis in Japan". Ann. Neurol. 29 (2): 168–74. doi:10.1002/ana.410290209. PMID 1672809. S2CID 45699820.
  9. ↑ Morling N, Andersen V, Fugger L, et al. (1991). "Immunogenetics of rheumatoid arthritis and primary Sjögren's syndrome: DNA polymorphism of HLA class II genes". Dis. Markers. 9 (5): 289–96. PMID 1686751.
  10. ↑ Terauchi M, Yanagawa T, Ishikawa N, Ito K, Fukazawa T, Maruyama H, Saruta T (2003). "Interactions of HLA-DRB4 and CTLA-4 genes influence thyroid function in Hashimoto's thyroiditis in Japanese population". J Endocrinol Invest. 26 (12): 1208–12. doi:10.1007/bf03349159. PMID 15055474. S2CID 2344535.
  11. ↑ Zamani M, Spaepen M, Sghar S, Huang C, Westerhof W, Nieuweboer-Krobotova L, Cassiman J (2001). "Linkage and association of HLA class II genes with vitiligo in a Dutch population". Br J Dermatol. 145 (1): 90–4. doi:10.1046/j.1365-2133.2001.04288.x. PMID 11453913. S2CID 25942367.
  12. ↑ Shimoda S, Nakamura M, Ishibashi H, Hayashida K, Niho Y (1995). "HLA DRB4 0101-restricted immunodominant T cell autoepitope of pyruvate dehydrogenase complex in primary biliary cirrhosis: evidence of molecular mimicry in human autoimmune diseases". J Exp Med. 181 (5): 1835–45. doi:10.1084/jem.181.5.1835. PMC 2191998. PMID 7536796.
  13. ↑ Corzo D, Yunis J, Salazar M, Lieberman J, Howard A, Awdeh Z, Alper C, Yunis E (1995). "The major histocompatibility complex region marked by HSP70-1 and HSP70-2 variants is associated with clozapine-induced agranulocytosis in two different ethnic groups". Blood. 86 (10): 3835–40. doi:10.1182/blood.V86.10.3835.bloodjournal86103835. PMID 7579351.
  14. ↑ Kobayashi H, Kokubo T, Takahashi M, Sato K, Miyokawa N, Kimura S, Kinouchi R, Katagiri M (1998). "Tyrosinase epitope recognized by an HLA-DR-restricted T-cell line from a Vogt-Koyanagi-Harada disease patient". Immunogenetics. 47 (5): 398–403. doi:10.1007/s002510050375. PMID 9510558. S2CID 1592923.
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