FET protein family

The FET protein family (also known as the TET protein family)[1] consists of three similarly structured and functioning proteins.[2] They and the genes in the FET gene family which encode them (i.e. form the pre-messenger RNAs that are converted to the messenger RNAs responsible for their production) are:[2][3] 1) the EWSR1 protein encoded by the EWSR1 gene (also termed the Ewing sarcoma RNA binding protein, EWS RNA binding protein 1, or bK984G1.4 gene) located at band 12.2 of the long (i.e. "q") arm of chromosome 22;[4] 2) the FUS (i.e. fused in sarcoma) protein encoded by the FUS gene (also termed the FUS RNA binding protein, TLS, asTLS, ALS6, ETM4, FUS1, POMP75, altFUS, or HNRNPP2 gene) located at band 16 on the short arm of chromosome 16;[5] and 3) the TAF15 protein encoded by the TAF15 gene (also termed the TATA-box binding protein associated factor 15, Npl3, RBP56, TAF2N, or TAFII68 gene) located at band 12 on the long arm of chromosome 7[6] The FET in this protein family's name derives from the first letters of FUS, EWSR1, and TAF15.[7]

FET proteins are abundantly expressed in virtually all tissues examined. They are RNA-binding proteins.[7] By binding to their RNA targets, they contribute to the regulation of: a) the transcription of genes into pre-messenger RNA, the splicing of pre-messenger RNA into mature messenger RNA, and the transport of these RNAs between different areas of their parent cells; b) the processing of micro-RNAs that are involved in RNA silencing and post-transcriptional regulation of gene expression; and 3) the detection and repair of damaged DNA. Through these multiple, complex, and often incompletely understood actions, the FET family proteins regulate the cellular expression of diverse genes.[2] However, the genes for FET proteins often undergo various types of mutation. While these mutations and the diseases with which they are associated can be found in the Wikipedia pages on these diseases, this article focuses on one type of mutation, the fusion gene mutation. Fusion genes are formed from two previously independent genes that become united due to a chromosome translocation, deletion of some genetic material in a chromosome, or chromosomal inversion.[1][8] For example, the EWSR1-FL1[9] fusion gene is made by a chromosomal translocation which merges part of the EWSR1 gene normally located on band 12 of the long (or "q") arm of chromosome 22 with part of the FLI1 ETS transcription factor family gene normally located on band 24 of the long arm of chromosome 11. The EWSR1-FLI1 fusion gene encodes an EWS-FLI1 chimeric protein which possesses unregulated and excessive FLI1 transcription factor activity which it appears to contribute to the development of Ewing sarcomas.[10] FET fusion genes have attracted recent interest because they have been found to be associated with, and may act to promote the development of, a wide range of soft tissue neoplasms derived from mesencyhmal tissue cells.[3][7][11] Detection of a FET gene–containing fusion gene is extremely helpful in diagnosing tumor types,[1][11] defining the pathogenic mechanisms by which these fusion proteins promote disorders,[3][12] and thereby identifying potential targets for treating these disorders.[2][13] The following are examples of these fusion genes' associations with malignant and benign neoplastic tumors.[1][7]

  1. ^ a b c d Flucke U, van Noesel MM, Siozopoulou V, Creytens D, Tops BB, van Gorp JM, Hiemcke-Jiwa LS (June 2021). "EWSR1-The Most Common Rearranged Gene in Soft Tissue Lesions, Which Also Occurs in Different Bone Lesions: An Updated Review". Diagnostics (Basel, Switzerland). 11 (6): 1093. doi:10.3390/diagnostics11061093. PMC 8232650. PMID 34203801.
  2. ^ a b c d Kovar H (2011). "Dr. Jekyll and Mr. Hyde: The Two Faces of the FUS/EWS/TAF15 Protein Family". Sarcoma. 2011: 837474. doi:10.1155/2011/837474. PMC 3005952. PMID 21197473.
  3. ^ a b c Lindén M, Thomsen C, Grundevik P, Jonasson E, Andersson D, Runnberg R, Dolatabadi S, Vannas C, Luna Santamaria M, Fagman H, Ståhlberg A, Åman P (May 2019). "FET family fusion oncoproteins target the SWI/SNF chromatin remodeling complex". EMBO Reports. 20 (5). doi:10.15252/embr.201845766. PMC 6500973. PMID 30962207.
  4. ^ "EWSR1 EWS RNA binding protein 1 [Homo sapiens (Human)] - Gene - NCBI".
  5. ^ "FUS FUS RNA binding protein [Homo sapiens (Human)] - Gene - NCBI".
  6. ^ "TAF15 TATA-box binding protein associated factor 15 [Homo sapiens (Human)] - Gene - NCBI".
  7. ^ a b c d Hoell JI, Larsson E, Runge S, Nusbaum JD, Duggimpudi S, Farazi TA, Hafner M, Borkhardt A, Sander C, Tuschl T (November 2011). "RNA targets of wild-type and mutant FET family proteins". Nature Structural & Molecular Biology. 18 (12): 1428–31. doi:10.1038/nsmb.2163. PMC 3230689. PMID 22081015.
  8. ^ Boone MA, Taslim C, Crow JC, Selich-Anderson J, Watson M, Heppner P, Hamill J, Wood AC, Lessnick SL, Winstanley M (August 2021). "Identification of a novel FUS/ETV4 fusion and comparative analysis with other Ewing sarcoma fusion proteins". Molecular Cancer Research. 19 (11): 1795–1801. doi:10.1158/1541-7786.MCR-21-0354. PMC 8568690. PMID 34465585. S2CID 237373339.
  9. ^ "FL1 Follicular lymphoma, susceptibility to, 1 [Homo sapiens (Human)] - Gene - NCBI".
  10. ^ Sbaraglia M, Righi A, Gambarotti M, Dei Tos AP (January 2020). "Ewing sarcoma and Ewing-like tumors". Virchows Archiv. 476 (1): 109–119. doi:10.1007/s00428-019-02720-8. PMID 31802230. S2CID 208613433.
  11. ^ a b Krystel-Whittemore M, Taylor MS, Rivera M, Lennerz JK, Le LP, Dias-Santagata D, Iafrate AJ, Deshpande V, Chebib I, Nielsen GP, Wu CL, Nardi V (November 2019). "Novel and established EWSR1 gene fusions and associations identified by next-generation sequencing and fluorescence in-situ hybridization". Human Pathology. 93: 65–73. doi:10.1016/j.humpath.2019.08.006. PMID 31430493. S2CID 201117873.
  12. ^ Agaimy A (January 2020). "What is new in epithelioid soft tissue tumors?". Virchows Archiv. 476 (1): 81–96. doi:10.1007/s00428-019-02677-8. PMID 31686193. S2CID 207893952.
  13. ^ Tanaka M, Nakamura T (July 2021). "Modeling fusion gene-associated sarcoma: Advantages for understanding sarcoma biology and pathology". Pathology International. 71 (10): 643–654. doi:10.1111/pin.13142. PMID 34265156. S2CID 235962562.