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HLA-DR53



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].

Contents

Alleles

DR53 recognition of some DRB4* alleles[5]
DRB4* DR53  ? Sample
allele % % size (N)
0101 95 38
0103 89 49


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-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. PMID 3596674.
  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. 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. 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. 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. 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.
  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. PMID 15055474.
  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. PMID 11453913.
  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. 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. 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. PMID 9510558.
v • d • e
HLA DR Serotypes
DR - DR1 - DR2 - DR3 - DR4 - DR5 - DR6 - DR7 - DR8 - DR9 - DR10 - DR11 - DR12 - DR13 - DR14 - DR15 - DR16 - DR17 - DR18 - DR51 - DR52 - DR53
 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "HLA-DR53". A list of authors is available in Wikipedia.
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