Interferon regulatory factor 4 also known as MUM1 is a protein that in humans is encoded by the IRF4gene,[1][2][3] located at 6p25-p23.
The MUM1 symbol is polysemous; although it is an older synonym for IRF4 (HGNC:6119), it is also the current HGNC official symbol for melanoma associated antigen (mutated) 1 (HGNC:29641; located at 19p13.3).
Clinical significance
In melanocytic cells the IRF4 gene may be regulated by MITF.[4] IRF4 is a transcription factor that has been implicated in acute leukemia.[5] This gene is strongly associated with pigmentation: sensitivity of skin to sun exposure, freckles, blue eyes, and brown hair color.[6] A variant has been implicated in greying of hair.[7]
↑Grossman A, Mittrücker HW, Nicholl J, Suzuki A, Chung S, Antonio L, Suggs S, Sutherland GR, Siderovski DP, Mak TW (Feb 1997). "Cloning of human lymphocyte-specific interferon regulatory factor (hLSIRF/hIRF4) and mapping of the gene to 6p23-p25". Genomics. 37 (2): 229–33. doi:10.1006/geno.1996.0547. PMID8921401.
↑Escalante CR, Shen L, Escalante MC, Brass AL, Edwards TA, Singh H, Aggarwal AK (July 2002). "Crystallization and characterization of PU.1/IRF-4/DNA ternary complex". J. Struct. Biol. 139 (1): 55–9. doi:10.1016/S1047-8477(02)00514-2. PMID12372320.
Further reading
Mamane Y, Sharma S, Grandvaux N, Hernandez E, Hiscott J (2002). "IRF-4 activities in HTLV-I-induced T cell leukemogenesis". J. Interferon Cytokine Res. 22 (1): 135–43. doi:10.1089/107999002753452746. PMID11846984.
Iida S, Rao PH, Butler M, Corradini P, Boccadoro M, Klein B, Chaganti RS, Dalla-Favera R (1997). "Deregulation of MUM1/IRF4 by chromosomal translocation in multiple myeloma". Nat. Genet. 17 (2): 226–30. doi:10.1038/ng1097-226. PMID9326949.
Rao S, Matsumura A, Yoon J, Simon MC (1999). "SPI-B activates transcription via a unique proline, serine, and threonine domain and exhibits DNA binding affinity differences from PU.1". J. Biol. Chem. 274 (16): 11115–24. doi:10.1074/jbc.274.16.11115. PMID10196196.
Marecki S, Atchison ML, Fenton MJ (1999). "Differential expression and distinct functions of IFN regulatory factor 4 and IFN consensus sequence binding protein in macrophages". J. Immunol. 163 (5): 2713–22. PMID10453013.
Mamane Y, Sharma S, Petropoulos L, Lin R, Hiscott J (2000). "Posttranslational regulation of IRF-4 activity by the immunophilin FKBP52". Immunity. 12 (2): 129–40. doi:10.1016/S1074-7613(00)80166-1. PMID10714679.
Gupta S, Anthony A, Pernis AB (2001). "Stage-specific modulation of IFN-regulatory factor 4 function by Krüppel-type zinc finger proteins". J. Immunol. 166 (10): 6104–11. doi:10.4049/jimmunol.166.10.6104. PMID11342629.
Imaizumi Y, Kohno T, Yamada Y, Ikeda S, Tanaka Y, Tomonaga M, Matsuyama T (2002). "Possible involvement of interferon regulatory factor 4 (IRF4) in a clinical subtype of adult T-cell leukemia". Jpn. J. Cancer Res. 92 (12): 1284–92. doi:10.1111/j.1349-7006.2001.tb02151.x. PMID11749693.
Sharma S, Grandvaux N, Mamane Y, Genin P, Azimi N, Waldmann T, Hiscott J (2002). "Regulation of IFN regulatory factor 4 expression in human T cell leukemia virus-I-transformed T cells". J. Immunol. 169 (6): 3120–30. doi:10.4049/jimmunol.169.6.3120. PMID12218129.
Escalante CR, Shen L, Escalante MC, Brass AL, Edwards TA, Singh H, Aggarwal AK (2003). "Crystallization and characterization of PU.1/IRF-4/DNA ternary complex". J. Struct. Biol. 139 (1): 55–9. doi:10.1016/S1047-8477(02)00514-2. PMID12372320.
Hu CM, Jang SY, Fanzo JC, Pernis AB (2003). "Modulation of T cell cytokine production by interferon regulatory factor-4". J. Biol. Chem. 277 (51): 49238–46. doi:10.1074/jbc.M205895200. PMID12374808.
O'Reilly D, Quinn CM, El-Shanawany T, Gordon S, Greaves DR (2003). "Multiple Ets factors and interferon regulatory factor-4 modulate CD68 expression in a cell type-specific manner". J. Biol. Chem. 278 (24): 21909–19. doi:10.1074/jbc.M212150200. PMID12676954.
Sundram U, Harvell JD, Rouse RV, Natkunam Y (2004). "Expression of the B-cell proliferation marker MUM1 by melanocytic lesions and comparison with S100, gp100 (HMB45), and MelanA". Mod. Pathol. 16 (8): 802–10. doi:10.1097/01.MP.0000081726.49886.CF. PMID12920225.