The DUB/USP17 deubiquitinating enzymes: A gene family within a tandemly repeated sequence, is also embedded within the copy number variable Beta-defensin cluster

BMC Genomics

Volumn 11, Issue 1, 2010, Pages

  Burrows, James F ^a   Scott, Christopher J ^a   Johnston, James A ^a  

^a QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BETA DEFENSIN; CYSTEINE PROTEINASE; DEUBIQUITINATING ENZYME; UBIQUITIN SPECIFIC PROTEINASE 17; UNCLASSIFIED DRUG; PROTEINASE; UBIQUITIN SPECIFIC PROTEASE; UBIQUITIN-SPECIFIC PROTEASE;

ARTICLE; CELL GROWTH; CELL SURVIVAL; CHIMPANZEE; CHROMOSOME 4P; CHROMOSOME 8P; CONTROLLED STUDY; COPY NUMBER VARIATION; ENZYME ACTIVITY; ENZYME LOCALIZATION; GENE CLUSTER; GENE DUPLICATION; GENE IDENTIFICATION; GENE MAPPING; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; MAMMAL; MOLECULAR EVOLUTION; MOUSE; MULTIGENE FAMILY; NONHUMAN; NUCLEOTIDE SEQUENCE; RAT; SEQUENCE ANALYSIS; SPECIES DIFFERENCE; SPECIES DIVERSITY; TANDEM REPEAT; ANIMAL; CHROMOSOME 4; CHROMOSOME 8; GENETICS; PHYLOGENY;

ANIMALS; BETA-DEFENSINS; CHROMOSOMES, HUMAN, PAIR 4; CHROMOSOMES, HUMAN, PAIR 8; DNA COPY NUMBER VARIATIONS; ENDOPEPTIDASES; HUMANS; MICE; MULTIGENE FAMILY; PHYLOGENY; RATS; TANDEM REPEAT SEQUENCES;

EID: 77950939156     PISSN: None     EISSN: 14712164     Source Type: Journal    
DOI: 10.1186/1471-2164-11-250     Document Type: Article

References (33)

1. Wilkinson KD, Tashayev VL, O'Connor LB, Larsen CN, Kasperek E, Pickart CM. Metabolism of the polyubiquitin degradation signal: structure, mechanism, and role of isopeptidase T. Biochemistry 1995, 34:14535-14546. 10.1021/bi00044a032, 7578059.
2. Komander D, Clague MJ, Urbe S. Breaking the chains: structure and function of the deubiquitinases. Nature Reviews Mol Cell Biol 2009, 10:550-563.
3. Zhu Y, Os Pless M, Inhorn R, Mathey-Prevot B, D'Andrea AD. The murine DUB-1 gene is specifically induced by the betac subunit of interleukin-3 receptor. Mol Cell Biol 1996, 16:4808-4819. 231482, 8756639.
4. Baek K-H, Kim MS, Kim YS, Shin JM, Choi HK. DUB-1A, a novel deubiquitinating enzyme subfamily member, is polyubiquitinated and cytokine-inducible in B-lymphocytes. J Biol Chem 2004, 279:2368-2376. 10.1074/jbc.M304774200, 14583620.
5. Zhu Y, Lambert K, Corless C, Copeland NG, Gilbert DJ, Jenkins NA, D'Andrea AD. DUB-2 is a member of a novel family of cytokine-inducible deubiquitinating enzymes. J Biol Chem 1997, 272:51-57. 10.1074/jbc.272.1.51, 8995226.
6. Burrows JF, McGrattan MJ, Rascle A, Humbert M, Baek K-H, Johnston JA. DUB-3, a cytokine-inducible deubiquitinating enzyme that blocks proliferation. J Biol Chem 2004, 279:13993-14000. 10.1074/jbc.M311291200, 14699124.
7. Zhu Y, Carroll M, Papa FR, HochStrasser M, D'Andrea A. DUB-1, a deubiquitinating enzyme with growth-suppressing action. Proc Natl Acad Sci USA 1996, 93:3275-3279. 10.1073/pnas.93.8.3275, 39596, 8622927.
8. Migone T, Humbert M, Rascle A, Sanden D, D'Andrea A, Johnston JA. The deubiquitinating enzyme DUB-2 prolongs cytokine-induced signal transducers and activators of transcription activation and suppresses apoptosis following cytokine withdrawal. Blood 2001, 98:1935-1941. 10.1182/blood.V98.6.1935, 11535532.
9. Burrows JF, Kelvin AA, McFarlane C, Burden RE, McGrattan MJ, De la Vega M, Govender U, Quinn DJ, Dib K, Gadina M, Scott CJ, Johnston JA. USP17 regulates Ras activation and cell proliferation by blocking RCE1 activity. J Biol Chem 2009, 284:9587-9595. 10.1074/jbc.M807216200, 2666611, 19188362.
10. Saitoh Y, Miyamoto N, Okada T, Gondo Y, Showguchi-Miyata J, Hadano S, Ikeda J-E. The RS447 human megasatellite tandem repetitive sequence encodes a novel deubiquitinating enzyme with a functional promoter. Genomics 2000, 67:291-300. 10.1006/geno.2000.6261, 10936051.
11. Kogi M, Fukushige S, Lefevre C, Hadano S, Ikeda J-E. A novel tandem repeat sequence located on human chromosome 4p: isolation and characterization. Genomics 1997, 42:278-283. 10.1006/geno.1997.4746, 9192848.
12. Okada T, Gondo Y, Goto J, Kanazawa I, Hadano S, Ikeda J-E. Unstable transmission of the RS447 human megasatellite tandem repetitive sequence that contains the USP17 deubiquitinating enzyme gene. Hum Genet 2002, 110:302-313. 10.1007/s00439-002-0698-2, 11941478.
13. Gondo Y, Okada T, Matsuyama N, Saitoh Y, Yanagisawa Y, Ikeda J-E. Human megasatellite DNA RS447: copy-number polymorphisms and interspecies conservation. Genomics 1998, 54:39-49. 10.1006/geno.1998.5545, 9806828.
14. Burrows JF, McGrattan MJ, Johnston JA. The DUB/USP17 deubiquitinating enzymes, a multigene family within a tandemly repeated sequence. Genomics 2005, 85:524-529. 10.1016/j.ygeno.2004.11.013, 15780755.
15. Baek K-H. Conjugation and deconjugation of ubiquitin regulating the destiny of proteins. Exp Mol Med 2003, 35:1-7.
16. Groth M, Szafranski K, Taudien S, Huse K, Mueller O, Rosenstiel P, Nygren AOH, Schreiber S, Birkenmeier G, Platzer M. High-Resolution Mapping of the 8p23.1 Beta- Defensin Cluster Reveals Strictly Concordant Copy Number Variation of All Genes. Human Mutation 2008, 29:1247-1254. 10.1002/humu.20751, 18470942.
17. Hollox EJ, Barber JCK, Brookes AJ, Armour JAL. Defensins and the dynamic genome: What we can learn from structural variation at human chromosome band 8p23.1. Genome Research 2008, 18:1686-1697. 10.1101/gr.080945.108, 18974263.
18. Baek K, Mondoux MA, Jaster R, Fire-Levin E, D'Andrea A. DUB-2A, a new member of the DUB subfamily of hematopoietic deubiquitinating enzymes. Blood 2001, 98:636-642. 10.1182/blood.V98.3.636, 11468161.
19. Hollox EJ, Armour JAL, Barber JCK. Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster. Am J Hum Genet 2003, 73:591-600. 10.1086/378157, 1180683, 12916016.
20. Patil AA, Cai Y, Sang Y, Blecha F, Zhang G. Cross-species analysis of the mammalian β-defensin gene family: presence of sytenic gene clusters and preferential expression in the male reproductive tract. Physiol Genomics 2005, 23:5-17. 10.1152/physiolgenomics.00104.2005, 16033865.
21. Alfred PMR, Hollox EJ, Armour JAL. Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3. Hum Mol Genet 2005, 14:2045-2052. 10.1093/hmg/ddi209, 15944200.
22. Linzmeier RM, Ganz T. Human defensin gene copy number polymorphisms: Comprehensive analysis of independent variation in alpha- and beta-defensin regions at 8p22-p23. Genomics 2005, 86:423-430. 10.1016/j.ygeno.2005.06.003, 16039093.
23. Glusman G, Yanai I, Rubin I, Lancet D. The complete human olfactory subgenome. Genome Res 2001, 11:685-702. 10.1101/gr.171001, 11337468.
24. Niimura Y, Nei M. Extensive gains and losses of olfactory receptor genes in Mammalian evolution. PLoS ONE 2008, 2:E708.
25. Young JM, Endicott RM, Parghi SS, Walker M, Kidd JM, Trask BJ. Extensive Copy-Number Variation of the Human Olfactory Receptor Gene Family. The American Journal of Human Genetics 2008, 83:228-242.
26. Gilad Y, Man O, Paabo S, Lancet D. Human specific loss of olfactory receptor genes. Proc Natl Acad Sci USA 2003, 100:3324-3327. 10.1073/pnas.0535697100, 152291, 12612342.
27. Gilad Y, Przeworski M, Lancet D. Loss of olfactory receptor genes coincides with the acquisition of full trichromatic vision in primates. PLoS Biol 2004, 2:E5. 10.1371/journal.pbio.0020005, 314465, 14737185.
28. McFarlane C, Kelvin AA, de la Vega MA, Govender U, Scott CJ, Burrows JF, Johnston JA. The deubiquitinating enzyme USP17 is cell cycle regulated and mediates G1-S transition. Cancer Res 2010,
29. de la Vega MA, Burrows JF, McFarlane C, Govender U, Scott CJ, Johnston JA. The deubiquitinating enzyme USP17 blocks N-Ras membrane trafficking and activation, but leaves K-Ras unaffected. J Biol Chem 2010,
30. Shin JM, Yoo KJ, Kim MS, Kim D, Baek KH. Hyaluronan- and RNA-binding deubiquitinating enzymes of USP17 family members associated with cell viability. BMC Genomics 2006, 7:292. 10.1186/1471-2164-7-292, 1665497, 17109758.
31. Pereg Y, Liu BY, O'Rourke KM, Sagolla M, Dey A, Komuves L, French DM, Dixit VM. Ubiquitin hydrolase Dub3 promotes oncogenic transformation by stabilizing Cdc25A. Nature Cell Biology 2010,
32. Fellermann K, Stange DE, Schaeffeler E, Schmalzl H, Wehkamp J, Bevins CL, Reinisch W, Teml A, Schwab M, Lichter P, Radlwimmer B, Stange EF. A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon. Am J Hum Genet 2006, 79:439-448. 10.1086/505915, 1559531, 16909382.
33. Hollox EJ, Huffmeier U, Zeeuwen PL, Palla R, Lascorz J, Rodijk-Olthuis D, Kerkhof PC, Traupe H, de Jongh G, den Heijer M, Reis A, Armour JA, Schalkwijk J. Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet 2008, 40:23-25. 10.1038/ng.2007.48, 2447885, 18059266.