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Gene Review

RBM45  -  RNA binding motif protein 45

Homo sapiens

Synonyms: DRB1, DRBP1, Developmentally-regulated RNA-binding protein 1, FLJ44612, RB-1, ...
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Disease relevance of DRB1


Psychiatry related information on DRB1

  • The HLA association in Koreans was as tight as that reported in Japanese. Several DRB1 (*0101, *0405, *0901) and DQB1 alleles (*0303, *0401, *0501, *0601, *0604) were found to have weak protective effects against narcolepsy [6].

High impact information on DRB1

  • The general pattern of neutral and protective haplotypes indicates that the presence of Asp-57 in the HLA-DQ beta chain does not confer IDDM protection per se and indicates that both DRB1 and DQB1 influence IDDM susceptibility as well as protection [7].
  • All participants were of African descent and were enrolled in epidemiologic studies conducted at the University of the West Indies, Kingston, Jamaica. We used standard microlymphocytotoxicity assays for HLA antigen serotyping and polymerase chain reaction-based methods to examine HLA class II DRB1 and DQB1 alleles [8].
  • Transmission of human immunodeficiency virus 1 (HIV-1) from an infected women to her offspring during gestation and delivery was found to be influenced by the infant's major histocompatibility complex class II DRB1 alleles [9].
  • The coalescence theory of populations genetics leads to the conclusion that the DRB1 polymorphism requires that the population ancestral to modern humans has maintained a mean effective size of 100,000 individuals over the 30-million-year persistence of this polymorphism [10].
  • These results contribute substantially to our understanding of the DRB1 locus and MS, and underscore the importance of using large sample sizes to detect modest genetic effects, particularly in studies of genotype-phenotype relationships [11].

Chemical compound and disease context of DRB1

  • This work helps to characterize the spectrum of mutations in the Brazilian population, and to confirm that formaldehyde-fixed paraffin tissue can provide valuable information on the RB1 status in retinoblastoma patients [12].

Biological context of DRB1

  • In addition, a high risk DRB1*15 genotype bearing DRB1*08 was identified (OR=7.7, 95% CI=4.1-14.4, P<0.0001), providing additional evidence for trans DRB1 allelic interactions in MS [11].
  • Further, a significant DRB1*15 association observed in primary progressive MS families (P=0.0004), similar to relapsing-remitting MS families, suggests that DRB1-related mechanisms are contributing to both phenotypes [11].
  • The molecular analysis of the DRB1 locus carried out in 20 of the 70 probands demonstrated that, in both haplotypes, DR4 was represented by the DRB1*0405 allele.(ABSTRACT TRUNCATED AT 250 WORDS)[13]
  • However, the polymorphism exhibited strong linkage disequilibrium with HLA DQB1-DRB1 haplotypes previously identified as predisposing to the diseases [14].
  • Amino acid sequences at residues 70-74 of DRB1 chain shared by HLA-DRB1 alleles (shared epitomes) were also informative [15].

Anatomical context of DRB1

  • He received fludarabine (Flu) and cyclophosphamide (Cy), followed by a CD34(+) E-rosette(-) (CD34(+)E(-)), T cell-depleted, granulocyte colony-stimulating factor (G-CSF)-mobilized PBSCT from his HLA B-DRB1 mismatched father [3].
  • We analysed alloreactive T-cell clones selected for their differential recognition of DR variants differing in the third hypervariable region (hvr) of the DRB1 gene (amino acid positions 67-70-71) [16].
  • Background: The antigens encoded by human leukocyte antigen (HLA) genes are primary antigens in immunological response of transplantation, and genotypes of HLA-A, B and DRB1 must be determined on donors and recipients before the transplantation is carried out [17].
  • SUBJECTS AND METHODS: Between April 1983 and December 1997, 141 patients with chronic myelogenous leukemia in its first chronic phase received a bone marrow transplant from a matched sibling donor (n = 96) or an HLA-A,B/DRB1-matched unrelated donor (n = 45) [18].
  • Stem cells were human leukocyte antigen-A, B, and DRB1 matched in 70 cases (74%) and single-antigen mismatched in 25 cases (26%) [19].

Associations of DRB1 with chemical compounds

  • Allele-level (molecular) typing for HLA-DRB1 was available in 108 donor-recipient pairs; 77 patients received DRB -matched and 31 DRB1-mismatched transplants [20].
  • The HLA genotyping suggested that the complement polymorphism C4A * 4, the complotype S42, and the genes 0901 and 1301 of DRB1 allele, were related to the pathogenesis of MG [21].
  • OBJECTIVE: To investigate the frequency and distribution of DRB1 and DQB1 alleles in Patients with rheumatoid arthritis (RA) and analyze the relationship between clinical response to methotrexate (MTX) and the HLA-DR and HLA-DQ genotypes in these patients [22].
  • RESULTS: Despite that patient 40 carries high-risk alleles of the DRB1 and DQB1 loci, his T-cells recognize a glutamic acid decarboxylase-derived peptide in association with class II, DR53, molecules [23].
  • Identification of DRB1 allele (DRB1*1316) with aspartate at position 86: evolutionary considerations and functional implications [24].

Physical interactions of DRB1

  • The DRB1 region of major histocompatibility complex was screened by polymerase chain reaction/sequence specific primers (PCR/SSP) in a total of 140 subjects including 70 RA patients and 70 matched healthy controls [25].

Other interactions of DRB1

  • In haplotype analyses, marginally significant association was found between AAA and haplotype HLA-DQA1-DRB1 (p = 0.049 with global score statistics and p = 0.002 with haplotype-specific score statistics) [26].
  • Molecular sub typing of the most prevalent allele DRB1 *04 revealed a statistically significant association between RA and DRB1 *0405 [25].
  • Stratification of the haplotype data suggested that susceptibility to JIA in the haplotype spanning the SLC11A1 locus is independent (P < 0.01) of an association with a DRB1 JIA shared epitope (DRB1*JIASE) that includes well-characterized strong susceptibility to DRB1*08 and *11 alleles [27].
  • Parametric linkage analysis gave a non-significant LOD score of 0.31 (theta; = 0.33) for the DRB1 gene [28].
  • The Phi29-processed DNA provided adequate templates for polymerase chain reaction (PCR)-based analyses of several HLA (A, B, C, DRB1, and DQB1) and related loci (HFE, MICA, and 10 microsatellites) in the 6p24.3-6p21.3 region, with PCR amplicons ranging from 92 to 2200 bp [29].

Analytical, diagnostic and therapeutic context of DRB1


  1. HLA-B, -DRB1/3/4/5, and -DQB1 gene polymorphisms in human immunodeficiency virus-related Kaposi's sarcoma. Dorak, M.T., Yee, L.J., Tang, J., Shao, W., Lobashevsky, E.S., Jacobson, L.P., Kaslow, R.A. J. Med. Virol. (2005) [Pubmed]
  2. Significant association of HLA-B and HLA-DRB1 alleles with cleft lip with or without cleft palate. Sakata, Y., Tokunaga, K., Yonehara, Y., Bannai, M., Tsuchiya, N., Susami, T., Takato, T. Tissue Antigens (1999) [Pubmed]
  3. Stem cell transplantation for the treatment of Fanconi anaemia using a fludarabine-based cytoreductive regimen and T-cell-depleted related HLA-mismatched peripheral blood stem cell grafts. Boulad, F., Gillio, A., Small, T.N., George, D., Prasad, V., Torok-Castanza, J., Regan, A.D., Collins, N., Auerbach, A.D., Kernan, N.A., O'Reilly, R.J. Br. J. Haematol. (2000) [Pubmed]
  4. Roles of DRB1( *)1501 and DRB1( *)1502 in the pathogenesis of aplastic anemia. Sugimori, C., Yamazaki, H., Feng, X., Mochizuki, K., Kondo, Y., Takami, A., Chuhjo, T., Kimura, A., Teramura, M., Mizoguchi, H., Omine, M., Nakao, S. Exp. Hematol. (2007) [Pubmed]
  5. Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74. Simmonds, M.J., Heward, J.M., Barrett, J.C., Franklyn, J.A., Gough, S.C. Clin. Endocrinol. (Oxf) (2006) [Pubmed]
  6. Association of HLA-DR and -DQ Genes with Narcolepsy in Koreans Comparison with Two Control Groups, Randomly Selected Subjects and DRB1*1501-DQB1*0602-Positive Subjects. Roh, E.Y., Park, M.H., Park, H., Park, D.H., Choi, J.B., Kim, S.J., Jeong, D.U. Hum. Immunol. (2006) [Pubmed]
  7. HLA class II alleles and susceptibility and resistance to insulin dependent diabetes mellitus in Mexican-American families. Erlich, H.A., Zeidler, A., Chang, J., Shaw, S., Raffel, L.J., Klitz, W., Beshkov, Y., Costin, G., Pressman, S., Bugawan, T. Nat. Genet. (1993) [Pubmed]
  8. Human leukocyte antigen class II alleles associated with human T-cell lymphotropic virus type I infection and adult T-cell leukemia/lymphoma in a Black population. Manns, A., Hanchard, B., Morgan, O.S., Wilks, R., Cranston, B., Nam, J.M., Blank, M., Kuwayama, M., Yashiki, S., Fujiyoshi, T., Blattner, W., Sonoda, S. J. Natl. Cancer Inst. (1998) [Pubmed]
  9. Major histocompatibility complex class II DR alleles DRB1*1501 and those encoding HLA-DR13 are preferentially associated with a diminution in maternally transmitted human immunodeficiency virus 1 infection in different ethnic groups: determination by an automated sequence-based typing method. Winchester, R., Chen, Y., Rose, S., Selby, J., Borkowsky, W. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  10. Molecular genetics of speciation and human origins. Ayala, F.J., Escalante, A., O'Huigin, C., Klein, J. Proc. Natl. Acad. Sci. U.S.A. (1994) [Pubmed]
  11. Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis. Barcellos, L.F., Sawcer, S., Ramsay, P.P., Baranzini, S.E., Thomson, G., Briggs, F., Cree, B.C., Begovich, A.B., Villoslada, P., Montalban, X., Uccelli, A., Savettieri, G., Lincoln, R.R., Deloa, C., Haines, J.L., Pericak-Vance, M.A., Compston, A., Hauser, S.L., Oksenberg, J.R. Hum. Mol. Genet. (2006) [Pubmed]
  12. A molecular study of first and second RB1 mutational hits in retinoblastoma patients. de Andrade, A.F., da Hora Barbosa, R., Vargas, F.R., Ferman, S., Eisenberg, A.L., Fernandes, L., Bonvicino, C.R. Cancer Genet. Cytogenet. (2006) [Pubmed]
  13. Identification of two different HLA B49 DR4 extended haplotypes in the Sardinian population. Vacca, A., Carcassi, C., La Nasa, G., Mulargia, M., Pizzati, A., Ledda, A., Floris, L., Baldini, G., Porcella, R., Contu, L. Tissue Antigens (1994) [Pubmed]
  14. Analysis of a functional BTNL2 polymorphism in type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosus. Orozco, G., Eerligh, P., Sánchez, E., Zhernakova, S., Roep, B.O., González-Gay, M.A., López-Nevot, M.A., Callejas, J.L., Hidalgo, C., Pascual-Salcedo, D., Balsa, A., González-Escribano, M.F., Koeleman, B.P., Martín, J. Hum. Immunol. (2005) [Pubmed]
  15. HLA-DRB1 alleles and HLA-DRB1 shared epitopes are markers for juvenile rheumatoid arthritis subgroups in Colombian mestizos. Garavito, G., Yunis, E.J., Egea, E., Ramirez, L.A., Malagón, C., Iglesias, A., De La Cruz, O.F., Uribe, O., Navarro, E., Martinez, P., Jaraquemada, D. Hum. Immunol. (2004) [Pubmed]
  16. Comparison of TCR-alpha beta sequences of cross-reactive anti-DR alloreactive T-cell clones: identification of possible contact residues based on charge complementarity between TCR chains and DR determinants. Champagne, E., Essaket, S., Huchenq, A., Fabron, J., Coppin, H.L., Sevin, J., Thomsen, M. Eur. J. Immunogenet. (1992) [Pubmed]
  17. Development and clinical evaluation of oligonucleotide microarray for HLA-AB genotyping. Zhang, F., Hu, S., Huang, J., Wang, H., Wen, Z., Yongyao, G., Wang, S. Pharmacogenomics (2006) [Pubmed]
  18. Equivalent outcomes in patients with chronic myelogenous leukemia after early transplantation of phenotypically matched bone marrow from related or unrelated donors. Davies, S.M., DeFor, T.E., McGlave, P.B., Miller, J.S., Verfaillie, C.M., Wagner, J.E., Weisdorf, D.J. Am. J. Med. (2001) [Pubmed]
  19. High-producer interleukin-2 genotype increases risk for acute graft-versus-host disease after unrelated donor bone marrow transplantation. MacMillan, M.L., Radloff, G.A., Kiffmeyer, W.R., DeFor, T.E., Weisdorf, D.J., Davies, S.M. Transplantation (2003) [Pubmed]
  20. Marrow transplantation from unrelated donors for patients with severe aplastic anemia who have failed immunosuppressive therapy. Deeg, H.J., Seidel, K., Casper, J., Anasetti, C., Davies, S., Gajeweski, J.L., Territo, M., Ramsay, N., Harris, R.E., Catro-Malaspina, H., Collins, R., Champlin, R., Schoch, G., King, R., Howe, C. Biol. Blood Marrow Transplant. (1999) [Pubmed]
  21. The clinical study and HLA genotyping of 112 familial myasthenia gravis patients. Bu, B., Yang, M., Xu, J., Gong, F., Jiang, X., Nie, X. J. Tongji Med. Univ. (1999) [Pubmed]
  22. Polymorphism of HLA-DR and HLA-DQ in rheumatoid arthritis patients and clinical response to methotrexate--a hospital-based study. Ali, A.A., Moatter, T., Baig, J.A., Iqbal, A., Hussain, A., Iqbal, M.P. JPMA. The Journal of the Pakistan Medical Association (2006) [Pubmed]
  23. HLA-DR53 molecules restrict glutamic acid decarboxylase peptide presentation to T cells of a Type I diabetes patient: specification of the trimolecular HLA-peptide/T-cell receptor complex. Huck, C., Endl, J., Walk, T., Noessner, E., Jung, G., Wank, R., Schendel, D.J. Diabetologia (2001) [Pubmed]
  24. Identification of DRB1 allele (DRB1*1316) with aspartate at position 86: evolutionary considerations and functional implications. Cizman, B.B., Heron, S.D., McKeen, M.E., Kearns, D.J., Bassinger, S., Griffith, B.B., Argyris, E.G., Kamoun, M., Zmijewski, C.M., Williams, T.M., Monos, D.S. Tissue Antigens (1996) [Pubmed]
  25. HLA-DRB1 association in Saudi rheumatoid arthritis patients. Al-Swailem, R., Al-Rayes, H., Sobki, S., Arfin, M., Tariq, M. Rheumatol. Int. (2006) [Pubmed]
  26. Evidence for association between the HLA-DQA locus and abdominal aortic aneurysms in the Belgian population: a case control study. Ogata, T., Gregoire, L., Goddard, K.A., Skunca, M., Tromp, G., Lancaster, W.D., Parrado, A.R., Lu, Q., Shibamura, H., Sakalihasan, N., Limet, R., MacKean, G.L., Arthur, C., Sueda, T., Kuivaniemi, H. BMC Med. Genet. (2006) [Pubmed]
  27. Association of SLC11A1 (NRAMP1) with persistent oligoarticular and polyarticular rheumatoid factor-negative juvenile idiopathic arthritis in Finnish patients: haplotype analysis in Finnish families. Runstadler, J.A., Säilä, H., Savolainen, A., Leirisalo-Repo, M., Aho, K., Tuomilehto-Wolf, E., Tuomilehto, J., Seldin, M.F. Arthritis Rheum. (2005) [Pubmed]
  28. A multigenerational family with multiple sclerosis. Dyment, D.A., Cader, M.Z., Willer, C.J., Risch, N., Sadovnick, A.D., Ebers, G.C. Brain (2002) [Pubmed]
  29. Molecular typing of human leukocyte antigen and related polymorphisms following whole genome amplification. Shao, W., Tang, J., Dorak, M.T., Song, W., Lobashevsky, E., Cobbs, C.S., Wrensch, M.R., Kaslow, R.A. Tissue Antigens (2004) [Pubmed]
  30. Novel HLA-DR2-related haplotypes in Hong Kong Chinese implicate the DQB1*0602 allele in susceptibility to multiple sclerosis. Serjeantson, S.W., Gao, X., Hawkins, B.R., Higgins, D.A., Yu, Y.L. Eur. J. Immunogenet. (1992) [Pubmed]
  31. Stable engraftment after a conditioning regimen with fludarabine and melphalan for bone marrow transplantation from an unrelated donor. Inamoto, Y., Oba, T., Miyamura, K., Terakura, S., Tsujimura, A., Kuwatsuka, Y., Tokunaga, M., Kasai, M., Murata, M., Naoe, T., Kodera, Y. Int. J. Hematol. (2006) [Pubmed]
  32. MAGIC or not MAGIC - does the MAGIC (Mouth And Genital ulcers with Inflamed Cartilage) syndrome really exist ? A case report and review of the literature. K??tter, I., Deuter, C., G??naydin, I., Zierhut, M. Clin. Exp. Rheumatol. (2006) [Pubmed]
  33. Application of HLA-DRB1 genotyping by oligonucleotide micro-array technology in forensic medicine. Jiang, B., Li, Y., Wu, H., He, X., Li, C., Li, L., Tang, R., Xie, Y., Mao, Y. Forensic Sci. Int. (2006) [Pubmed]
  34. Associations between HLA class II alleles and type 1 diabetes mellitus in the Slovak population. Buc, M., Bucová, M., Javor, J., Krivosíkova, M., Stuchlíkova, M., Shawkatova, I., Michalková, D., Barák, L., Jancová, E., Petrek, M. Endocrine regulations. (2006) [Pubmed]
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