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Gene Review

EXOSC1  -  exosome component 1

Homo sapiens

Synonyms: CGI-108, CSL4, Csl4p, Exosome complex component CSL4, Exosome component 1, ...
 
 
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Disease relevance of EXOSC1

 

Psychiatry related information on EXOSC1

 

High impact information on EXOSC1

  • We have recently described the isolation of a candidate for the Wilms' tumor susceptibility gene mapping to band p13 of human chromosome 11 [8].
  • During mitosis, a fraction tightly associated with centrosomes. p13 was more evenly distributed between the nucleus and cytoplasm [9].
  • In addition, a p34 immune complex showed protein kinase activity in vitro, and HeLa cell p34 interacts with p13, the human homolog of the suc1+ gene product of S. pombe [10].
  • Identification of p34 and p13, human homologs of the cell cycle regulators of fission yeast encoded by cdc2+ and suc1+ [10].
  • Patients with this syndrome typically exhibit constitutional deletions involving band p13 of one chromosome 11 homologue [11].
 

Biological context of EXOSC1

  • These data indicate that the distinct functions of the exosome can be separated genetically and suggest that the RNA binding domain of Csl4p may have a specific function in mRNA degradation [12].
  • Interestingly, the ski4-1 allele contains a point mutation resulting in a mutation in the putative RNA binding domain of the Csl4p protein [12].
  • We demonstrate that the two human proteins hCsl4p and hRrp42p, which have been identified on the basis of their sequence homology with Saccharomyces cerevisiae proteins, are associated with the human exosome [13].
  • The absence of the nuclear-specific exosome component, Rrp6p, from the rna14.1 strain gave a very different phenotype [14].
  • In contrast, three highly polymorphic anonymous probes, YNZ22.1 (D17S5), YNH37.3 (D17S28), and 144-D6 (D17S34), were deleted in each of four patients with visible deletions, including one with a ring chromosome 17 that is deleted for a portion of the single telomeric prometaphase subband p13 [15].
 

Anatomical context of EXOSC1

  • Analysis of somatic cell hybrids and in situ chromosomal hybridization demonstrated that the translocated segment was normally located at band p13 of chromosome 9 [16].
  • One other patient in this group had a rearrangement of chromosome 16 (with a break in the short arm at band p13); however, the ANLL type was M1 and no abnormal eosinophils were present [17].
  • Upon treatment of NK cells with pervanadate, the disulfide-linked p13 and additional proteins of 25, 30, 37 and 50-95 kDa were identified as KAR-associated tyrosine phosphoproteins [18].
  • These two cell lines are characterized by the presence of at least five copies of the I (p13 leads to q21) region that result from multiple deletions and/or translocations; by consistent trisomy and polymorphism of the 9qh region; and by trisomy of chromosome 10 (also involved in rearrangements) [19].
  • 5. Both the p13/n23 [g] and n12/p20 [g] potentials were abolished by selective vestibular nerve section and unaffected by severe sensorineural deafness [20].
 

Associations of EXOSC1 with chemical compounds

 

Physical interactions of EXOSC1

  • Mutants of hCsl4p that fail to interact with either hRrp42p or hRrp46p are also not able to associate with exosome complexes in vivo [13].
 

Other interactions of EXOSC1

  • Depletion of the exosome component hRrp41p or hRrp46p with small interfering RNA significantly reduced ZAP's destabilizing activity [24].
  • This TTP-containing complex also contained the 5'-3' exonuclease Xrn1 and the exosome component PM-scl75 because it was super-shifted with anti-Xrn1 or anti-PMscl75 antibodies [25].
 

Analytical, diagnostic and therapeutic context of EXOSC1

  • DNA analysis revealed a polymorphic EcoRI band and chromosome localization by flow sorting and in situ hybridization showed that the alpha subunit is on the short arm (band p11-p13) of chromosome 1 [26].
  • Southern blotting and in situ chromosomal hybridization studies in one patient with the t(7;11) demonstrated that both alleles of the T-cell antigen receptor beta-subunit gene (TCRB) were rearranged, and that one TCRB allele had relocated from 7q35 to the fusion point in band p13 of the involved chromosome 11 (11p-) [27].
  • These data demonstrate that p13(MTCP1) is an oncoprotein and that CD2-p13 transgenic mice represent the first animal model for mature T-PLL [28].
  • The results of comparative sequence analysis demonstrated that STLV-1marc1 was not closely related to any known STLV-1 strain, was the most divergent strain of the HTLV-1-STLV-1 group, and lacked the ATG initiation codons corresponding to the p12 and p13 proteins of HTLV-1 [29].
  • Southern blot analysis of the genomic DNA from Chinese hamster-human and mouse-human hybrid cell lines and fluorescent in situ hybridization with human metaphase chromosome spreads have shown that the gene is located on human chromosome 9, band p13, a region known to be associated with different psychiatric disorders [30].

References

  1. Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus. Call, K.M., Glaser, T., Ito, C.Y., Buckler, A.J., Pelletier, J., Haber, D.A., Rose, E.A., Kral, A., Yeger, H., Lewis, W.H. Cell (1990) [Pubmed]
  2. Development of homozygosity for chromosome 11p markers in Wilms' tumour. Orkin, S.H., Goldman, D.S., Sallan, S.E. Nature (1984) [Pubmed]
  3. Functional analyses of GB virus B p13 protein: development of a recombinant GB virus B hepatitis virus with a p7 protein. Takikawa, S., Engle, R.E., Emerson, S.U., Purcell, R.H., St Claire, M., Bukh, J. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  4. Deregulation of PAX-5 by translocation of the Emu enhancer of the IgH locus adjacent to two alternative PAX-5 promoters in a diffuse large-cell lymphoma. Busslinger, M., Klix, N., Pfeffer, P., Graninger, P.G., Kozmik, Z. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  5. Attenuation of bovine leukemia virus by deletion of R3 and G4 open reading frames. Willems, L., Kerkhofs, P., Dequiedt, F., Portetelle, D., Mammerickx, M., Burny, A., Kettmann, R. Proc. Natl. Acad. Sci. U.S.A. (1994) [Pubmed]
  6. A 7.5 Mb sequence-ready PAC contig and gene expression map of human chromosome 11p13-p14.1. Gawin, B., Niederführ, A., Schumacher, N., Hummerich, H., Little, P.F., Gessler, M. Genome Res. (1999) [Pubmed]
  7. Case report: autistic disorder and chromosomal abnormality 46, XX duplication (4) p12-p13. Sabaratnam, M., Turk, J., Vroegop, P. European child & adolescent psychiatry. (2000) [Pubmed]
  8. An internal deletion within an 11p13 zinc finger gene contributes to the development of Wilms' tumor. Haber, D.A., Buckler, A.J., Glaser, T., Call, K.M., Pelletier, J., Sohn, R.L., Douglass, E.C., Housman, D.E. Cell (1990) [Pubmed]
  9. The cdc2 kinase is a nuclear protein that is essential for mitosis in mammalian cells. Riabowol, K., Draetta, G., Brizuela, L., Vandre, D., Beach, D. Cell (1989) [Pubmed]
  10. Identification of p34 and p13, human homologs of the cell cycle regulators of fission yeast encoded by cdc2+ and suc1+. Draetta, G., Brizuela, L., Potashkin, J., Beach, D. Cell (1987) [Pubmed]
  11. The beta-subunit of follicle-stimulating hormone is deleted in patients with aniridia and Wilms' tumour, allowing a further definition of the WAGR locus. Glaser, T., Lewis, W.H., Bruns, G.A., Watkins, P.C., Rogler, C.E., Shows, T.B., Powers, V.E., Willard, H.F., Goguen, J.M., Simola, K.O. Nature (1986) [Pubmed]
  12. Function of the ski4p (Csl4p) and Ski7p proteins in 3'-to-5' degradation of mRNA. van Hoof, A., Staples, R.R., Baker, R.E., Parker, R. Mol. Cell. Biol. (2000) [Pubmed]
  13. Protein-protein interactions of hCsl4p with other human exosome subunits. Raijmakers, R., Noordman, Y.E., van Venrooij, W.J., Pruijn, G.J. J. Mol. Biol. (2002) [Pubmed]
  14. Processing of 3'-extended read-through transcripts by the exosome can generate functional mRNAs. Torchet, C., Bousquet-Antonelli, C., Milligan, L., Thompson, E., Kufel, J., Tollervey, D. Mol. Cell (2002) [Pubmed]
  15. Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome. vanTuinen, P., Dobyns, W.B., Rich, D.C., Summers, K.M., Robinson, T.J., Nakamura, Y., Ledbetter, D.H. Am. J. Hum. Genet. (1988) [Pubmed]
  16. Molecular analysis of a chromosomal translocation, t(9;14)(p13;q32), in a diffuse large-cell lymphoma cell line expressing the Ki-1 antigen. Ohno, H., Furukawa, T., Fukuhara, S., Zong, S.Q., Kamesaki, H., Shows, T.B., Le Beau, M.M., McKeithan, T.W., Kawakami, T., Honjo, T. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  17. Abnormalities of chromosome 16 in association with acute myelomonocytic leukemia and dysplastic bone marrow eosinophils. Hogge, D.E., Misawa, S., Parsa, N.Z., Pollak, A., Testa, J.R. J. Clin. Oncol. (1984) [Pubmed]
  18. Signaling through human killer cell activating receptors triggers tyrosine phosphorylation of an associated protein complex. Campbell, K.S., Cella, M., Carretero, M., López-Botet, M., Colonna, M. Eur. J. Immunol. (1998) [Pubmed]
  19. Chromosomes of human hepatoma cell lines. Simon, D., Aden, D.P., Knowles, B.B. Int. J. Cancer (1982) [Pubmed]
  20. Vestibulocollic reflexes evoked by short-duration galvanic stimulation in man. Watson, S.R., Colebatch, J.G. J. Physiol. (Lond.) (1998) [Pubmed]
  21. Metabolites of the beta-amyloid precursor protein generated by beta-secretase localise to the trans-Golgi network and late endosome in 293 cells. Stephens, D.J., Austen, B.M. J. Neurosci. Res. (1996) [Pubmed]
  22. Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9. Shih, L.Y., Suslak, L., Rosin, I., Searle, B.M., Desposito, F. Am. J. Med. Genet. (1984) [Pubmed]
  23. The human galactosyltransferase gene is on chromosome 9 at band p13. Shaper, N.L., Shaper, J.H., Bertness, V., Chang, H., Kirsch, I.R., Hollis, G.F. Somat. Cell Mol. Genet. (1986) [Pubmed]
  24. The zinc-finger antiviral protein recruits the RNA processing exosome to degrade the target mRNA. Guo, X., Ma, J., Sun, J., Gao, G. Proc. Natl. Acad. Sci. U.S.A. (2007) [Pubmed]
  25. Tristetraprolin recruits functional mRNA decay complexes to ARE sequences. Hau, H.H., Walsh, R.J., Ogilvie, R.L., Williams, D.A., Reilly, C.S., Bohjanen, P.R. J. Cell. Biochem. (2007) [Pubmed]
  26. Human placental Na+,K+-ATPase alpha subunit: cDNA cloning, tissue expression, DNA polymorphism, and chromosomal localization. Chehab, F.F., Kan, Y.W., Law, M.L., Hartz, J., Kao, F.T., Blostein, R. Proc. Natl. Acad. Sci. U.S.A. (1987) [Pubmed]
  27. Chromosome translocations involving band 7q35 or 7p15 in childhood T-cell leukemia/lymphoma. Kaneko, Y., Maseki, N., Homma, C., Sakurai, M., Mizutani, S., Takeda, T., Shikano, T., Fujimoto, T., Yaoi, K., Shimokawa, T. Blood (1988) [Pubmed]
  28. Transgenic mice for MTCP1 develop T-cell prolymphocytic leukemia. Gritti, C., Dastot, H., Soulier, J., Janin, A., Daniel, M.T., Madani, A., Grimber, G., Briand, P., Sigaux, F., Stern, M.H. Blood (1998) [Pubmed]
  29. Molecular characterization and phylogenetic analyses of a new, highly divergent simian T-cell lymphotropic virus type 1 (STLV-1marc1) in Macaca arctoides. Mahieux, R., Pecon-Slattery, J., Gessain, A. J. Virol. (1997) [Pubmed]
  30. Exon-intron structure, analysis of promoter region, and chromosomal localization of the human type 1 sigma receptor gene. Prasad, P.D., Li, H.W., Fei, Y.J., Ganapathy, M.E., Fujita, T., Plumley, L.H., Yang-Feng, T.L., Leibach, F.H., Ganapathy, V. J. Neurochem. (1998) [Pubmed]
 
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