Exosome component 3 explained

Exosome component 3, also known as EXOSC3, is a human gene, which is part of the exosome complex.^[1]

Clinical significance

Mutations in EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.^[2]

Further reading

• Allmang C, Petfalski E, Podtelejnikov A . The yeast exosome and human PM-Scl are related complexes of 3' --> 5' exonucleases. . Genes Dev. . 13 . 16 . 2148–58 . 1999 . 10465791 . 10.1101/gad.13.16.2148. 316947 . etal.
• Lai CH, Chou CY, Ch'ang LY . Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. . Genome Res. . 10 . 5 . 703–13 . 2000 . 10810093 . 10.1101/gr.10.5.703. 310876 . etal.
• Brouwer R, Allmang C, Raijmakers R . Three novel components of the human exosome. . J. Biol. Chem. . 276 . 9 . 6177–84 . 2001 . 11110791 . 10.1074/jbc.M007603200 . etal. free . 2066/186951 . free .
• Chen CY, Gherzi R, Ong SE . AU binding proteins recruit the exosome to degrade ARE-containing mRNAs. . Cell . 107 . 4 . 451–64 . 2002 . 11719186 . 10.1016/S0092-8674(01)00578-5 . 14817671 . etal. free .
• Andersen JS, Lyon CE, Fox AH . Directed proteomic analysis of the human nucleolus. . Curr. Biol. . 12 . 1 . 1–11 . 2002 . 11790298 . 10.1016/S0960-9822(01)00650-9 . 14132033 . etal. free . 2002CBio...12....1A .
• Raijmakers R, Noordman YE, van Venrooij WJ, Pruijn GJ . Protein-protein interactions of hCsl4p with other human exosome subunits. . J. Mol. Biol. . 315 . 4 . 809–18 . 2002 . 11812149 . 10.1006/jmbi.2001.5265 . 2066/261980 . free .
• Brouwer R, Vree Egberts WT, Hengstman GJ . Autoantibodies directed to novel components of the PM/Scl complex, the human exosome. . Arthritis Res. . 4 . 2 . 134–8 . 2002 . 11879549 . 10.1186/ar389. 83843 . etal . free .
• Raijmakers R, Egberts WV, van Venrooij WJ, Pruijn GJ . Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring. . J. Mol. Biol. . 323 . 4 . 653–63 . 2002 . 12419256 . 10.1016/S0022-2836(02)00947-6 . 2066/186665 . free .
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Gherzi R, Lee KY, Briata P . A KH domain RNA binding protein, KSRP, promotes ARE-directed mRNA turnover by recruiting the degradation machinery. . Mol. Cell . 14 . 5 . 571–83 . 2004 . 15175153 . 10.1016/j.molcel.2004.05.002 . etal. free .
• Lehner B, Sanderson CM . A protein interaction framework for human mRNA degradation. . Genome Res. . 14 . 7 . 1315–23 . 2004 . 15231747 . 10.1101/gr.2122004 . 442147 .
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Rual JF, Venkatesan K, Hao T . Towards a proteome-scale map of the human protein-protein interaction network. . Nature . 437 . 7062 . 1173–8 . 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 . etal.

Notes and References

1. Web site: Entrez Gene: EXOSC3 exosome component 3.
2. Wan J, Yourshaw M, Mamsa H, Rudnik-Schöneborn S, Menezes MP, Hong JE, Leong DW, Senderek J, Salman MS, Chitayat D, Seeman P, von Moers A, Graul-Neumann L, Kornberg AJ, Castro-Gago M, Sobrido MJ, Sanefuji M, Shieh PB, Salamon N, Kim RC, Vinters HV, Chen Z, Zerres K, Ryan MM, Nelson SF, Jen JC . Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration . Nat. Genet. . 44 . 6 . 704–8 . 2012 . 22544365 . 3366034 . 10.1038/ng.2254 .