Supplementary Table 2. DUBs that are altered in disease
DUB family
DUB
Mutation
Deleted in the cerebrovascular angiopathy Moyamoya (33). Translocated in prolymphocytic T-cell leukemia (3).
Altered expression
JAMM/MPN+
BRCC3
Overexpressed in lymphoma, seminoma (39).
JAMM/MPN+
COP5S
JAMM/MPN+
COP6S
Amplified in breast cancer (55).
JAMM/MPN+
EIF3H
Amplified in breast & prostate cancer (35).
JAMM/MPN+
MPND
JAMM/MPN+
MYSM1
Mutated in 2% of cancers including large intestine & skin (11).
JAMM/MPN+
PRPF8
Retinitis pigmentosa type 13 (9). Mutated in 5% of cancers, including lymphoid,
large intestine, skin, upper aerodigestive tract (11).
JAMM/MPN+
POH1
JAMM/MPN+
AMSH
JAMM/MPN+
AMSH-LP
Josephin
ATXN3
Expanded repeat in Machado-Joseph disease (Spinocerebellar ataxia type 3) (24).
Josephin
ATXN3L
Mutated in 2% of cancers, including large intestine & skin (11).
Josephin
JOSD1
Overexpressed in NSCLC (28), downregulated in lymphoma & colorectal
cancer (39).
OTU
OTUB1
Overexpressed in bladder cancer (39).
OTU
OTUB2
Overexpressed in breast & colorectal cancer (39).
OTU
OTUD1
Downregulated in lymphoma, colorectal & lung cancer (39).
OTU
OTUD3
Mutated in 86% of large intestine cancers (11).
OTU
OTUD4
Mutated in 3% of cancers, including large intestine & upper aerodigestive tract
(11).
OTU
OTUD6B
Overexpressed in NSCLC, melanoma (28).
Overexpressed in colon cancer (28).
Downregulated in colorectal cancer (39).
Overexpressed in lymphoma, brain, colorectal, and 8 other cancers (28, 39).
Mutated in Microcephaly–capillary malformation (MIC-CAP) syndrome (30).
Downregulated in stomach cancer (28).
Overexpressed in colorectal & kidney cancer, downregulated seminoma
(39).
Downregulated in seminoma (39).
Overexpressed in colorectal cancer (39).
OTU
Cezanne2
OTU
Cezanne
OTU
A20
OTU
VCPIP1
UCH
BAP1
UCH
UCHL1
UCH
UCHL3
USP
CYLD
USP
DUB3
USP
USP1
USP
USP2
USP
USP3
USP
USP4
USP
USP5
USP
USP6
USP
USP7
USP
USP8
USP
USP9X
Mutated in 2% of cancers, including large intestine & skin (11).
Mutated in 2% of cancers, including large intestine & upper aerodigestive tract
(11).
Mutated in 9% of cancers, including lymphoid & upper aerodigestive tract (11).
Mutations associated with immunopathologies like Crohn's disease, rheumatoid
arthritis, systemic lupus erythematosus, psoriasis and type 1 diabetes (10).
Mutated in 2% of cancers, including large intestine, skin, urinary tract & upper
aerodigestive tract (11).
Mutated in 8% of cancers, including ocular melanoma, kidney, mesothelioma (11),
both somatic (5, 18, 36) and germline mutations associated with a cancer
predisposition syndrome (1, 45, 48) are reported.
S18Y polymorphism may protect against development of degenerative diseases
such as Parkinson’s (41) and Alzheimer’s (50), or affect age of onset in
Huntington’s (34).
Downregulated in brain cancer (39).
Downregulated in colorectal cancer (39).
Overexpressed in head & neck, kidney, leukaemia, lymphoma & 6 other
cancers (39), downregulated in certain lymphomas (7, 39).
Overexpressed in NSCLC lung cancer (20, 28, 39), colon and pancreatic
cancers (46, 51), downregulated in brain, colorectal & kidney cancer (28,
39).
Overexpressed in colorectal cancer, downregulated in seminoma (39).
Germline mutations in familial cylindromatosis (4). Mutated in 2% cancers,
including skin (11).
Mutated in 4% of cancers, including large intestine, skin & upper aerodigestive
tract (11).
Mutated in 2% of cancers, including large intestine, skin & urinary tract (11).
Mutated in 3% of cancers, including large intestine (11). Heart failure
predisposition locus close to USP3 (42).
Mutated in 2% of cancers, including large intestine, skin, upper aerodigestive tract
& urinary tract (11).
Mutated in 2% of cancers, including large intestine, skin & urinary tract (11).
Aneurysmal bone cyst (benign neoplasm), translocation t(16;17)(q22;p13) with
CDH11 causes USP6 transcriptional up-regulation (6). Mutated in 2% of cancers,
including large intestine, skin & upper aerodigestive tract (11).
Mutated in 3% of cancers, including large intestine, skin & upper aerodigestive
tract (11). P53 pathway SNPs associated with prostate cancer (44) and infertility
(23) include USP7.
Mutated in 2% of cancers, including large intestine, skin & upper aerodigestive
tract (11).
Mutated in 6% of cancers, including haematopoeitic & lymphoid, large intestine,
skin & upper aerodigestive tract (11). Mutated in 50% pancreatic cancers (37).
Suggestive association of USP9X SNP with premature ovarian failure (25).
Downregulated in melanoma, multiple myeloma, lymphoma, lung, liver,
colorectal & stomach cancer (19, 21, 28, 29, 39).
Overexpressed in brain, sarcoma & stomach cancer (28, 39), downregulated
in leukaemia & seminoma (39).
Downregulated in colorectal & kidney cancer (39), overexpressed in prostate
(16) and ovarian cancers (52), downregulated in breast cancer (32).
Overexpressed in brain cancer (39).
Overexpressed in lung adenocarcinoma & small cell lung cancer (SCLC)
(17), bladder & prostate cancer (54), downregulated in SCLC (12).
Downregulated in kidney cancer (39).
Overexpressed in prostate cancer (43).
Overexpressed in lung cancer (28), low expression associated poor
prognosis in pancreatic cancer (37).
Deletions in male infertility (40). Mutated in 5% of cancers, including large
intestine, skin & upper aerodigestive tract (11).
USP
USP9Y
USP
USP10
USP
USP11
Mutated in 2% of cancers, including large intestine (11).
Overexpressed in melanoma, leukaemia & sarcoma, downregulated in brain
cancer [3, 4].
USP
USP13
Mutated in 2% of cancers, including large intestine, skin & upper aerodigestive
tract (11).
Overexpressed in leukaemia (39).
USP
USP14
USP
USP15
Amplified in glioblastoma, breast cancer and ovarian cancer (8).
Downregulated in paclitaxel resistant ovarian cancer (49).
USP
USP16
Translocation in chronic myelomonocytic leukemia (inversion inv(21)(q21;q22) with
RUNX1/AML1) (14). Mutated in 2% of cancers including large intestine (11).
Downregulated in breast cancer (28).
USP
USP17
Overexpressed in melanoma & colon cancer [3, 4].
Overexpressed in breast & kidney cancer [3, 4], overexpressed in ovarian
cancer (52).
Overexpressed in lung, colon, esophagus & cervical cancer (31).
Mutated in 3% of cancers, including large intestine, skin & upper aerodigestive
tract (11).
Copy number gain in cancer (22). Mutated in 2% of cancers, including large
intestine (11).
USP
USP19
USP
USP21
USP
USP22
USP
USP24
USP
USP25
USP
USP26
USP
USP28
USP
USP29
USP
USP31
Mutated in 4% of cancers, including large intestine & skin (11).
Overexpressed in lymphoma, downregulated in seminoma (39).
USP
USP32
Mutated in 3% of cancers, including large intestine & skin (11).
Overexpressed in breast cancer (2).
USP
USP33
Mutated in 2% of cancers, including large intestine (11).
USP
USP34
Mutated in 8% of cancers, including large intestine, ovary, prostate & skin (11).
Overexpressed in melanoma (28), breast & colorectal cancer (15),
downregulated in lymphoma & breast (28).
SNP candidate disease gene for Parkinson’s (late onset) (27). Mutated in 4% of
cancers including breast, large intestine, ovary, prostate, skin & upper
aerodigestive tract (11).
Mutated in 3% of cancers including large intestine, liver & skin (11). SNP
associated with Crohn’s disease (47).
Mutated in male infertility. Mutated in 4% of cancers, including large intestine, skin,
upper aerodigestive tract & urinary tract (11). SNP may be associated woth male
infertility (53).
Mutated in 4% of cancers, including large intestine, skin & upper aerodigestive
tract (11).
Mutated in 4% of cancers, including large intestine, skin & upper aerodigestive
tract (11).
Downregulated in breast (28).
Overexpressed in breast cancer (38), downregulated in lymphoma (28).
Overexpressed in kidney cancer, downregulated in lymphoma (39).
USP
USP36
Mutated in 2% of cancers, including large intestine, skin & upper aerodigestive
tract (11).
USP
USP37
Mutated in 2% of cancers, including skin (11).
USP
USP38
Mutated in 2% of cancers, including large intestine (11).
USP
USP40
SNP candidate disease gene for Parkinson’s (late onset) (27). Mutated in 2% of
cancers, including large intestine (11).
USP
USP42
Mutated in 2% of cancers, including large intestine & skin (11).
USP
USP44
USP
USP45
USP
USP46
USP
USP47
USP
USP48
USP
USP49
USP
USP51
USP
USP53
USP
USP54
Mutated in 2% of cancers, including large intestine (11).
USP
USPL1
Mutated in 3% of cancers, including large intestine & skin (11).
USP
PARP11
Mutated in 2% of cancers, including large intestine (11).
Mutated in 3% of cancers, including large intestine, skin & upper aerodigestive
tract (11).
Mutated in 2% of cancers, including large intestine & upper aerodigestive tract
(11).
Certain haplotypes may be associated with major depressive disorder (13).
Mutated in 2% of cancers, including large intestine, skin & upper aerodigestive
tract (11).
Mutated in 3% of cancers, including large intestine, skin, upper aerodigestive tract
& urinary tract (11).
Overexpressed in colorectal cancer, downregulated in lymphoma (39).
Downregulated in seminoma (39).
Downregulated in breast cancer (39).
Overexpressed in leukaemia, downregulated in brain, oesophageal & kidney
cancer (39).
Downregulated in breast cancer & seminoma (39).
Overexpressed in melanoma (28).
Mutated in 2% of cancers, including large intestine & skin (11).
Mutated in 2% of cancers, including large intestine, skin & upper aerodigestive
tract (11).
Mutated in 2% of cancers, including large intestine & skin (11). In a duplicated
genomic region in Cantu syndrome, a rare condition characterized clinically by
hypertrichosis, cardiomegaly and bone abnormalities (26).
Downregulated in breast, colorectal, lung and lymphoma (39).
Overexpressed in colorectal cancer, downregulated lymphoma, seminoma
(39).
Criteria for inclusion
Oncomine (accessed 10/2012): p<0.0001, 2-fold change, top 10% of genes, 3 or more studies/comparisons
COSMIC (accessed 10/2012): mutated in at least 2% of all tumors, examples of tumor types given where 2 or more studies and >10% positive
References
1.
Abdel-Rahman MH, Pilarski R, Cebulla CM, Massengill JB, Christopher BN, Boru G, Hovland P, and Davidorf FH. Germline
BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. J Med Genet 48: 856-859, 2011.
2.
Akhavantabasi S, Akman HB, Sapmaz A, Keller J, Petty EM, and Erson AE. USP32 is an active, membrane-bound ubiquitin
protease overexpressed in breast cancers. Mamm Genome 21: 388-397, 2010.
3.
Antrobus R, and Boutell C. Identification of a novel higher molecular weight isoform of USP7/HAUSP that interacts with the
Herpes simplex virus type-1 immediate early protein ICP0. Virus Res 137: 64-71, 2008.
4.
Bignell GR, Warren W, Seal S, Takahashi M, Rapley E, Barfoot R, Green H, Brown C, Biggs PJ, Lakhani SR, Jones C, Hansen
J, Blair E, Hofmann B, Siebert R, Turner G, Evans DG, Schrander-Stumpel C, Beemer FA, van Den Ouweland A, Halley D, Delpech
B, Cleveland MG, Leigh I, Leisti J, and Rasmussen S. Identification of the familial cylindromatosis tumour-suppressor gene. Nature
genetics 25: 160-165, 2000.
5.
Bott M, Brevet M, Taylor BS, Shimizu S, Ito T, Wang L, Creaney J, Lake RA, Zakowski MF, Reva B, Sander C, Delsite R,
Powell S, Zhou Q, Shen R, Olshen A, Rusch V, and Ladanyi M. The nuclear deubiquitinase BAP1 is commonly inactivated by somatic
mutations and 3p21.1 losses in malignant pleural mesothelioma. Nature genetics 43: 668-672, 2011.
6.
Daubeuf S, Singh D, Tan Y, Liu H, Federoff HJ, Bowers WJ, and Tolba K. HSV ICP0 recruits USP7 to modulate TLR-mediated
innate response. Blood 113: 3264-3275, 2009.
7.
Durkop H, Hirsch B, Hahn C, Foss HD, and Stein H. Differential expression and function of A20 and TRAF1 in Hodgkin
lymphoma and anaplastic large cell lymphoma and their induction by CD30 stimulation. J Pathol 200: 229-239, 2003.
8.
Eichhorn PJ, Rodon L, Gonzalez-Junca A, Dirac A, Gili M, Martinez-Saez E, Aura C, Barba I, Peg V, Prat A, Cuartas I, Jimenez
J, Garcia-Dorado D, Sahuquillo J, Bernards R, Baselga J, and Seoane J. USP15 stabilizes TGF-beta receptor I and promotes
oncogenesis through the activation of TGF-beta signaling in glioblastoma. Nat Med 18: 429-435, 2012.
9.
Faustrup H, Bekker-Jensen S, Bartek J, Lukas J, and Mailand N. USP7 counteracts SCFbetaTrCP- but not APCCdh1-mediated
proteolysis of Claspin. J Cell Biol 184: 13-19, 2009.
10.
Fernandez-Montalvan A, Bouwmeester T, Joberty G, Mader R, Mahnke M, Pierrat B, Schlaeppi JM, Worpenberg S, and
Gerhartz B. Biochemical characterization of USP7 reveals post-translational modification sites and structural requirements for
substrate processing and subcellular localization. FEBS J 274: 4256-4270, 2007.
11.
Forbes SA, Tang G, Bindal N, Bamford S, Dawson E, Cole C, Kok CY, Jia M, Ewing R, Menzies A, Teague JW, Stratton MR, and
Futreal PA. COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer.
Nucleic Acids Res 38: D652-657, 2010.
12.
Frederick A, Rolfe M, and Chiu MI. The human UNP locus at 3p21.31 encodes two tissue-selective, cytoplasmic isoforms with
deubiquitinating activity that have reduced expression in small cell lung carcinoma cell lines. Oncogene 16: 153-165, 1998.
13.
Fukuo Y, Kishi T, Kushima I, Yoshimura R, Okochi T, Kitajima T, Matsunaga S, Kawashima K, Umene-Nakano W, Naitoh H,
Inada T, Nakamura J, Ozaki N, and Iwata N. Possible association between ubiquitin-specific peptidase 46 gene and major depressive
disorders in the Japanese population. J Affect Disord 133: 150-157, 2011.
14.
Gelsi-Boyer V, Trouplin V, Adelaide J, Aceto N, Remy V, Pinson S, Houdayer C, Arnoulet C, Sainty D, Bentires-Alj M,
Olschwang S, Vey N, Mozziconacci MJ, Birnbaum D, and Chaffanet M. Genome profiling of chronic myelomonocytic leukemia:
frequent alterations of RAS and RUNX1 genes. BMC Cancer 8: 299, 2008.
15.
Glinsky GV, Berezovska O, and Glinskii AB. Microarray analysis identifies a death-from-cancer signature predicting therapy
failure in patients with multiple types of cancer. J Clin Invest 115: 1503-1521, 2005.
16.
Graner E, Tang D, Rossi S, Baron A, Migita T, Weinstein LJ, Lechpammer M, Huesken D, Zimmermann J, Signoretti S, and
Loda M. The isopeptidase USP2a regulates the stability of fatty acid synthase in prostate cancer. Cancer Cell 5: 253-261, 2004.
17.
Gray DA, Inazawa J, Gupta K, Wong A, Ueda R, and Takahashi T. Elevated expression of Unph, a proto-oncogene at 3p21.3, in
human lung tumors. Oncogene 10: 2179-2183, 1995.
18.
Harbour JW, Onken MD, Roberson ED, Duan S, Cao L, Worley LA, Council ML, Matatall KA, Helms C, and Bowcock AM.
Frequent mutation of BAP1 in metastasizing uveal melanomas. Science 330: 1410-1413, 2010.
19.
Hellerbrand C, Bumes E, Bataille F, Dietmaier W, Massoumi R, and Bosserhoff AK. Reduced expression of CYLD in human
colon and hepatocellular carcinomas. Carcinogenesis 28: 21-27, 2007.
20.
Hibi K, Westra WH, Borges M, Goodman S, Sidransky D, and Jen J. PGP9.5 as a candidate tumor marker for non-small-cell lung
cancer. Am J Pathol 155: 711-715, 1999.
21.
Jenner MW, Leone PE, Walker BA, Ross FM, Johnson DC, Gonzalez D, Chiecchio L, Dachs Cabanas E, Dagrada GP,
Nightingale M, Protheroe RK, Stockley D, Else M, Dickens NJ, Cross NC, Davies FE, and Morgan GJ. Gene mapping and expression
analysis of 16q loss of heterozygosity identifies WWOX and CYLD as being important in determining clinical outcome in multiple
myeloma. Blood 110: 3291-3300, 2007.
22.
Kan Z, Jaiswal BS, Stinson J, Janakiraman V, Bhatt D, Stern HM, Yue P, Haverty PM, Bourgon R, Zheng J, Moorhead M,
Chaudhuri S, Tomsho LP, Peters BA, Pujara K, Cordes S, Davis DP, Carlton VE, Yuan W, Li L, Wang W, Eigenbrot C, Kaminker JS,
Eberhard DA, Waring P, Schuster SC, Modrusan Z, Zhang Z, Stokoe D, de Sauvage FJ, Faham M, and Seshagiri S. Diverse somatic
mutation patterns and pathway alterations in human cancers. Nature 466: 869-873, 2010.
23.
Kang HJ, Feng Z, Sun Y, Atwal G, Murphy ME, Rebbeck TR, Rosenwaks Z, Levine AJ, and Hu W. Single-nucleotide
polymorphisms in the p53 pathway regulate fertility in humans. Proc Natl Acad Sci U S A 106: 9761-9766, 2009.
24.
Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M,
Akiguchi I, and et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature genetics 8: 221-228,
1994.
25.
Knauff EA, Franke L, van Es MA, van den Berg LH, van der Schouw YT, Laven JS, Lambalk CB, Hoek A, Goverde AJ, ChristinMaitre S, Hsueh AJ, Wijmenga C, and Fauser BC. Genome-wide association study in premature ovarian failure patients suggests
ADAMTS19 as a possible candidate gene. Hum Reprod 24: 2372-2378, 2009.
26.
Kurban M, Kim CA, Kiuru M, Fantauzzo K, Cabral R, Abbas O, Levy B, and Christiano AM. Copy number variations on
chromosome 4q26-27 are associated with Cantu syndrome. Dermatology 223: 316-320, 2011.
27.
Li Y, Schrodi S, Rowland C, Tacey K, Catanese J, and Grupe A. Genetic evidence for ubiquitin-specific proteases USP24 and
USP40 as candidate genes for late-onset Parkinson disease. Hum Mutat 27: 1017-1023, 2006.
28.
Luise C, Capra M, Donzelli M, Mazzarol G, Jodice MG, Nuciforo P, Viale G, Di Fiore PP, and Confalonieri S. An atlas of altered
expression of deubiquitinating enzymes in human cancer. PLoS One 6: e15891, 2011.
29.
Massoumi R, Kuphal S, Hellerbrand C, Haas B, Wild P, Spruss T, Pfeifer A, Fassler R, and Bosserhoff AK. Down-regulation of
CYLD expression by Snail promotes tumor progression in malignant melanoma. J Exp Med 206: 221-232, 2009.
30.
McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM, Jr., MorrisRosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing
M, Woulfe J, Das S, Beaulieu CL, Marcadier J, Consortium FC, Geraghty MT, Frey BJ, Majewski J, Bulman DE, Dobyns WB,
O'Driscoll M, and Boycott KM. Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation
syndrome. Nature genetics 2013.
31.
McFarlane C, Kelvin AA, de la Vega M, Govender U, Scott CJ, Burrows JF, and Johnston JA. The deubiquitinating enzyme
USP17 is highly expressed in tumor biopsies, is cell cycle regulated, and is required for G1-S progression. Cancer Res 70: 3329-3339,
2010.
32.
Metzig M, Nickles D, Falschlehner C, Lehmann-Koch J, Straub BK, Roth W, and Boutros M. An RNAi screen identifies USP2 as
a factor required for TNF-alpha-induced NF-kappaB signaling. Int J Cancer 129: 607-618, 2011.
33.
Miskinyte S, Butler MG, Herve D, Sarret C, Nicolino M, Petralia JD, Bergametti F, Arnould M, Pham VN, Gore AV, Spengos
K, Gazal S, Woimant F, Steinberg GK, Weinstein BM, and Tournier-Lasserve E. Loss of BRCC3 Deubiquitinating Enzyme Leads to
Abnormal Angiogenesis and Is Associated with Syndromic Moyamoya. Am J Hum Genet 88: 718-728, 2011.
34.
Naze P, Vuillaume I, Destee A, Pasquier F, and Sablonniere B. Mutation analysis and association studies of the ubiquitin
carboxy-terminal hydrolase L1 gene in Huntington's disease. Neurosci Lett 328: 1-4, 2002.
35.
Nupponen NN, Isola J, and Visakorpi T. Mapping the amplification of EIF3S3 in breast and prostate cancer. Genes Chromosomes
Cancer 28: 203-210, 2000.
36.
Pena-Llopis S, Vega-Rubin-de-Celis S, Liao A, Leng N, Pavia-Jimenez A, Wang S, Yamasaki T, Zhrebker L, Sivanand S,
Spence P, Kinch L, Hambuch T, Jain S, Lotan Y, Margulis V, Sagalowsky AI, Summerour PB, Kabbani W, Wong SW, Grishin N,
Laurent M, Xie XJ, Haudenschild CD, Ross MT, Bentley DR, Kapur P, and Brugarolas J. BAP1 loss defines a new class of renal cell
carcinoma. Nature genetics 44: 751-759, 2012.
37.
Perez-Mancera PA, Rust AG, van der Weyden L, Kristiansen G, Li A, Sarver AL, Silverstein KA, Grutzmann R, Aust D,
Rummele P, Knosel T, Herd C, Stemple DL, Kettleborough R, Brosnan JA, Morgan R, Knight S, Yu J, Stegeman S, Collier LS, ten
Hoeve JJ, de Ridder J, Klein AP, Goggins M, Hruban RH, Chang DK, Biankin AV, Grimmond SM, Wessels LF, Wood SA, IacobuzioDonahue CA, Pilarsky C, Largaespada DA, Adams DJ, and Tuveson DA. The deubiquitinase USP9X suppresses pancreatic ductal
adenocarcinoma. Nature 486: 266-270, 2012.
38.
Popov N, Wanzel M, Madiredjo M, Zhang D, Beijersbergen R, Bernards R, Moll R, Elledge SJ, and Eilers M. The ubiquitinspecific protease USP28 is required for MYC stability. Nat Cell Biol 9: 765-774, 2007.
39.
Rhodes DR, Kalyana-Sundaram S, Mahavisno V, Varambally R, Yu J, Briggs BB, Barrette TR, Anstet MJ, Kincead-Beal C,
Kulkarni P, Varambally S, Ghosh D, and Chinnaiyan AM. Oncomine 3.0: genes, pathways, and networks in a collection of 18,000
cancer gene expression profiles. Neoplasia 9: 166-180, 2007.
40.
Sargent CA, Boucher CA, Kirsch S, Brown G, Weiss B, Trundley A, Burgoyne P, Saut N, Durand C, Levy N, Terriou P,
Hargreave T, Cooke H, Mitchell M, Rappold GA, and Affara NA. The critical region of overlap defining the AZFa male infertility
interval of proximal Yq contains three transcribed sequences. J Med Genet 36: 670-677, 1999.
41.
Satoh J, and Kuroda Y. A polymorphic variation of serine to tyrosine at codon 18 in the ubiquitin C-terminal hydrolase-L1 gene
is associated with a reduced risk of sporadic Parkinson's disease in a Japanese population. J Neurol Sci 189: 113-117, 2001.
42.
Smith NL, Felix JF, Morrison AC, Demissie S, Glazer NL, Loehr LR, Cupples LA, Dehghan A, Lumley T, Rosamond WD, Lieb
W, Rivadeneira F, Bis JC, Folsom AR, Benjamin E, Aulchenko YS, Haritunians T, Couper D, Murabito J, Wang YA, Stricker BH,
Gottdiener JS, Chang PP, Wang TJ, Rice KM, Hofman A, Heckbert SR, Fox ER, O'Donnell CJ, Uitterlinden AG, Rotter JI, Willerson
JT, Levy D, van Duijn CM, Psaty BM, Witteman JC, Boerwinkle E, and Vasan RS. Association of genome-wide variation with the risk
of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging
research in genomic epidemiology (CHARGE) consortium. Circ Cardiovasc Genet 3: 256-266, 2010.
43.
Song MS, Salmena L, Carracedo A, Egia A, Lo-Coco F, Teruya-Feldstein J, and Pandolfi PP. The deubiquitinylation and
localization of PTEN are regulated by a HAUSP-PML network. Nature 455: 813-817, 2008.
44.
Sun T, Lee GS, Oh WK, Pomerantz M, Yang M, Xie W, Freedman ML, and Kantoff PW. Single-nucleotide polymorphisms in
p53 pathway and aggressiveness of prostate cancer in a Caucasian population. Clin Cancer Res 16: 5244-5251, 2010.
45.
Testa JR, Cheung M, Pei J, Below JE, Tan Y, Sementino E, Cox NJ, Dogan AU, Pass HI, Trusa S, Hesdorffer M, Nasu M, Powers
A, Rivera Z, Comertpay S, Tanji M, Gaudino G, Yang H, and Carbone M. Germline BAP1 mutations predispose to malignant
mesothelioma. Nature genetics 43: 1022-1025, 2011.
46.
Tezel E, Hibi K, Nagasaka T, and Nakao A. PGP9.5 as a prognostic factor in pancreatic cancer. Clin Cancer Res 6: 4764-4767,
2000.
47.
Torkvist L, Halfvarson J, Ong RT, Lordal M, Sjoqvist U, Bresso F, Bjork J, Befrits R, Lofberg R, Blom J, Carlson M, Padyukov
L, D'Amato M, Seielstad M, and Pettersson S. Analysis of 39 Crohn's disease risk loci in Swedish inflammatory bowel disease patients.
Inflamm Bowel Dis 16: 907-909, 2010.
48.
Wiesner T, Obenauf AC, Murali R, Fried I, Griewank KG, Ulz P, Windpassinger C, Wackernagel W, Loy S, Wolf I, Viale A,
Lash AE, Pirun M, Socci ND, Rutten A, Palmedo G, Abramson D, Offit K, Ott A, Becker JC, Cerroni L, Kutzner H, Bastian BC, and
Speicher MR. Germline mutations in BAP1 predispose to melanocytic tumors. Nature genetics 43: 1018-1021, 2011.
49.
Xu M, Takanashi M, Oikawa K, Tanaka M, Nishi H, Isaka K, Kudo M, and Kuroda M. USP15 plays an essential role for caspase3 activation during Paclitaxel-induced apoptosis. Biochem Biophys Res Commun 388: 366-371, 2009.
50.
Xue S, and Jia J. Genetic association between Ubiquitin Carboxy-terminal Hydrolase-L1 gene S18Y polymorphism and sporadic
Alzheimer's disease in a Chinese Han population. Brain Res 1087: 28-32, 2006.
51.
Yamazaki T, Hibi K, Takase T, Tezel E, Nakayama H, Kasai Y, Ito K, Akiyama S, Nagasaka T, and Nakao A. PGP9.5 as a
marker for invasive colorectal cancer. Clin Cancer Res 8: 192-195, 2002.
52.
Yang Y, Hou JQ, Qu LY, Wang GQ, Ju HW, Zhao ZW, Yu ZH, and Yang HJ. [Differential expression of USP2, USP14 and UBE4A
between ovarian serous cystadenocarcinoma and adjacent normal tissues]. Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 23: 504-506, 2007.
53.
Zhang J, Qiu SD, Li SB, Zhou DX, Tian H, Huo YW, Ge L, and Zhang QY. Novel mutations in ubiquitin-specific protease 26 gene
might cause spermatogenesis impairment and male infertility. Asian J Androl 9: 809-814, 2007.
54.
Zhang X, Berger FG, Yang J, and Lu X. USP4 inhibits p53 through deubiquitinating and stabilizing ARF-BP1. Embo J 30: 21772189, 2011.
55.
Zhao R, Yeung SC, Chen J, Iwakuma T, Su CH, Chen B, Qu C, Zhang F, Chen YT, Lin YL, Lee DF, Jin F, Zhu R, Shaikenov T,
Sarbassov D, Sahin A, Wang H, Lai CC, Tsai FJ, Lozano G, and Lee MH. Subunit 6 of the COP9 signalosome promotes tumorigenesis in
mice through stabilization of MDM2 and is upregulated in human cancers. J Clin Invest 121: 851-865, 2011.