Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CYLD (cylindromatosis (turban tumor syndrome))

Identity

Other namesCDMT
CYLD1
CYLDI
EAC
FLJ20180
FLJ31664
FLJ78684
HSPC057
KIAA0849
MFT
MFT1
SBS
TEM
USPL2
HGNC (Hugo) CYLD
LocusID (NCBI) 1540
Location 16q12.1
Location_base_pair Starts at 50775961 and ends at 50835846 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Local_order ...NOD2, CYLD, SALL1 (Rev)...

DNA/RNA

 
  Figure 1. CYLD gene. Coding exons are indicated in dark red. Asterisks indicate exons which are differentially spliced. One of the exon which is alternatively present (Reiley et al., 2004) encodes the binding site for TRAF2 and NEMO (Hövelmeyer et al., 2007).
Description 21 exons (17 coding) with alternative splicing (see figure 1). Size of the exons: 74 (bp), 98, 79, 136, 626, 302, 105, 8, 98, 116, 379, 165, 141, 122, 91, 66, 132, 108, 118, 216, 5611. The whole gene extends over approximately 56 kb.
Pseudogene No.

Protein

 
  Figure 2. Structural organisation of CYLD. Binding sites for TRAF2 and NEMO are indicated. CAP: CAP-Gly domain, P: phosphorylation site, C and H: subdomains of the catalytic domain containing the Cys and His active residues.
Description 956 aa, approximately 110 kD.
Member of the deubiquitinase family (USP (Ubiquitin Specific Protease)) (Reyes-Turcu et al., 2009) with preferential affinity for K63-linked polyubiquitin chains (Massoumi and Paus, 2007; Courtois, 2008).
Expression Ubiquitous.
Localisation Cytoplasm (might bind to microtubules through its CAP-Gly domains).
Function CYLD has been primarily identified as a negative regulator of NF-kappaB signaling, able to bind NEMO and TRAF2 and to deubiquitinate them (Brummelkamp et al., 2003; Kovalenko et al., 2003; Trompouki et al., 2003). It is also a negative regulator of JNK and p38 signaling pathways (Reiley et al., 2004) and IRF-3 signaling pathways (Friedman et al., 2008; Zhang et al., 2008). It participates in antimicrobial defense and inflammation by targeting ubiquitinated TRAF6 (Lim et al., 2007; Lim et al., 2008) and is required for the development and activation of immune cells (Reiley et al., 2006; Jin et al., 2007). CYLD may also affect cell proliferation/cell cycling by targeting Plk1 and HDAC6 (Stegmeier et al., 2007; Massoumi et al., 2009) and cell migration via microtubule assembly (Gao et al., 2008). It controls spermatogenesis by deubiquitinating RIP (Wright et al., 2007) and osteoclastogenesis by deubiquitinating TAK1 (Jin et al., 2008). A role for CYLD in the hypoxia response has been reported (An et al., 2008). Its inactivation by human papilloma virus-derived E6 protein results in hypoxia-induced NF-kappaB activation. Finally, it has been shown to affect calcium channel function by deubiquitinating TRPA1 (Stokes et al., 2006).
CYLD interacts with NEMO (Kovalenko et al., 2003; Trompouki et al., 2003), TRAF2 (Kovalenko et al., 2003; Trompouki et al., 2003), p62 (Wooten et al., 2008), Bcl-3 (Massoumi et al., 2006), TAK1 (Reiley et al., 2007), RIP (Wright et al., 2007), lck (Reiley et al., 2006), HDAC6 (Wickström et al., 2010).
Homology Catalytic box (with other members of the deubiquitinase family (USPs)) and CAP-Gly (with a small collection of proteins (Steinmetz and Akhmanova, 2008)).

Mutations

 
  Figure 3. Mutations of CYLD. Misense mutations are indicated by boxes, nonsense mutations by black brackets and frameshift mutations by orange bars. Compiled from Blake and Toro, 2009 with additions from Amaro et al., 2009; Kazakov et al., 2009; Nasti et al., 2009; Wang et al., 2010 and Kazakov et al., 2010.
Germinal Tumor suppressor (Bignell et al., 2000).
See full recent listing in Blake and Toro, 2009. Most of the mutations (non sense, frameshit, splicing) would produce large deletions of the protein but, most likely, produce mRNA nonsense-mediated decay. Short truncations affect the catalytic box which extends to the carboxy-terminus of the protein and produce an inactive enzyme. Very few missense mutations have been reported. All of them affect the catalytic box.
Somatic Loss of heterozygosity in developing tumors.

Implicated in

Entity Familial cylindromatosis and multiple trichoepithelioma
Note Familial cylindromatosis, also called turban tumor syndrome is a rare inherited cancer which is characterized by the formation of benign tumors, called cylindroma, in hairy parts of the body, mostly the scalp. Cylindroma are considered as originating from a transformation event specifically affecting the folliculo-sebaceous-apocrine unit that produces hair and its associated glands. Early observations established that affected patients are heterozygous at birth for the locus causing the disease, whereas the cylindroma they develop exhibit a loss of heterozygosity (LOH) demonstrating the involvment of a gene coding for a tumor suppressor. More recently, it has been shown that another genetic disease sharing similarities with familial cylindromatosis, multiple trichoepithelioma (MT), is also caused by CYLD mutations (For reviews, see Massoumi and Paus, 2007; Courtois, 2008; Amaro et al., 2009).
  
Entity Various cancers
Note Loss of CYLD has been reported in solid tumors of the colon and liver (Hellerbrand et al., 2007), kidney (Ströbel et al., 2002), cervix (Hirai et al., 2004) and prostate (Kikuno et al., 2008). CYLD is also epigenetically silenced in some non-small-cell lung cancers (NSCLC) (Zhong et al., 2007).
CYLD has been identified as inactivated by either mutation or deletion in multiple myeloma (Annunziata et al., 2007; Keats et al., 2007). In this specific case, CYLD inactivation has been associated with short-term survival (Jenner et al., 2007).
In the case of melanoma, it has been shown that the CYLD promoter region is under negative control by snail, a protein which is upregulated in this disease (Massoumi et al., 2009). CYLD down-regulation results in Bcl3/NF-kappaB activation.
  

External links

Nomenclature
HGNC (Hugo)CYLD   2584
Cards
AtlasCYLDID40232ch16q12
Entrez_Gene (NCBI)CYLD  1540  cylindromatosis (turban tumor syndrome)
GeneCards (Weizmann)CYLD
Ensembl (Hinxton)ENSG00000083799 [Gene_View]  chr16:50775961-50835846 [Contig_View]  CYLD [Vega]
AceView (NCBI)CYLD
Genatlas (Paris)CYLD
WikiGenes1540
SOURCE (Princeton)NM_001042355 NM_001042412 NM_015247
Genomic and cartography
GoldenPath (UCSC)CYLD  -  16q12.1   chr16:50775961-50835846 +  16q12-q13   [Description]    (hg19-Feb_2009)
EnsemblCYLD - 16q12-q13 [CytoView]
Mapping of homologs : NCBICYLD [Mapview]
OMIM132700   601606   605018   605041   
Gene and transcription
Genbank (Entrez)AF161542 AJ250014 AK000187 AK024212 AK024348
RefSeq transcript (Entrez)NM_001042355 NM_001042412 NM_015247
RefSeq genomic (Entrez)AC_000148 NC_000016 NC_018927 NG_012061 NT_010498 NW_001838288 NW_004929402
Consensus coding sequences : CCDS (NCBI)CYLD
Cluster EST : UnigeneHs.578973 [ NCBI ]
CGAP (NCI)Hs.578973
Alternative Splicing : Fast-db (Paris)GSHG0011183
Alternative Splicing GalleryENSG00000083799
Gene ExpressionCYLD [ NCBI-GEO ]     CYLD [ SEEK ]   CYLD [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NQC7 (Uniprot)
NextProtQ9NQC7  [Medical]
With graphics : InterProQ9NQC7
Splice isoforms : SwissVarQ9NQC7 (Swissvar)
Catalytic activity : Enzyme3.4.19.12 [ Enzyme-Expasy ]   3.4.19.123.4.19.12 [ IntEnz-EBI ]   3.4.19.12 [ BRENDA ]   3.4.19.12 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)CAP_GLY_1 (PS00845)    CAP_GLY_2 (PS50245)    UCH_2_1 (PS00972)    UCH_2_2 (PS00973)    UCH_2_3 (PS50235)   
Domains : Interpro (EBI)CAP-Gly_domain    Pept_C19ubi-hydrolase_C_CS    Peptidase_C19/C67   
Related proteins : CluSTrQ9NQC7
Domain families : Pfam (Sanger)CAP_GLY (PF01302)    UCH (PF00443)   
Domain families : Pfam (NCBI)pfam01302    pfam00443   
Domain families : Smart (EMBL)CAP_GLY (SM01052)  
DMDM Disease mutations1540
Blocks (Seattle)Q9NQC7
PDB (SRS)1IXD    1WHL    1WHM    2VHF   
PDB (PDBSum)1IXD    1WHL    1WHM    2VHF   
PDB (IMB)1IXD    1WHL    1WHM    2VHF   
PDB (RSDB)1IXD    1WHL    1WHM    2VHF   
Human Protein AtlasENSG00000083799
Peptide AtlasQ9NQC7
HPRD05427
IPIIPI00106663   IPI00456609   IPI00973562   IPI01014428   
Protein Interaction databases
DIP (DOE-UCLA)Q9NQC7
IntAct (EBI)Q9NQC7
FunCoupENSG00000083799
BioGRIDCYLD
InParanoidQ9NQC7
Interologous Interaction database Q9NQC7
IntegromeDBCYLD
STRING (EMBL)CYLD
Ontologies - Pathways
Ontology : AmiGOubiquitin thiolesterase activity  ubiquitin-specific protease activity  protein binding  cytosol  cytosol  cytoplasmic microtubule  ubiquitin-dependent protein catabolic process  cell cycle  regulation of mitotic cell cycle  zinc ion binding  Wnt receptor signaling pathway  protein kinase binding  midbody  extrinsic to cytoplasmic side of plasma membrane  negative regulation of NF-kappaB transcription factor activity  negative regulation of type I interferon production  nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway  negative regulation of NF-kappaB import into nucleus  innate immune response  perinuclear region of cytoplasm  proline-rich region binding  nucleotide-binding oligomerization domain containing signaling pathway  regulation of microtubule cytoskeleton organization  protein K63-linked deubiquitination  negative regulation of canonical Wnt receptor signaling pathway  positive regulation of extrinsic apoptotic signaling pathway  regulation of intrinsic apoptotic signaling pathway  
Ontology : EGO-EBIubiquitin thiolesterase activity  ubiquitin-specific protease activity  protein binding  cytosol  cytosol  cytoplasmic microtubule  ubiquitin-dependent protein catabolic process  cell cycle  regulation of mitotic cell cycle  zinc ion binding  Wnt receptor signaling pathway  protein kinase binding  midbody  extrinsic to cytoplasmic side of plasma membrane  negative regulation of NF-kappaB transcription factor activity  negative regulation of type I interferon production  nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway  negative regulation of NF-kappaB import into nucleus  innate immune response  perinuclear region of cytoplasm  proline-rich region binding  nucleotide-binding oligomerization domain containing signaling pathway  regulation of microtubule cytoskeleton organization  protein K63-linked deubiquitination  negative regulation of canonical Wnt receptor signaling pathway  positive regulation of extrinsic apoptotic signaling pathway  regulation of intrinsic apoptotic signaling pathway  
Pathways : KEGGOsteoclast differentiation    RIG-I-like receptor signaling pathway   
REACTOMECYLD
Protein Interaction DatabaseCYLD
Wikipedia pathwaysCYLD
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CYLD
SNP (GeneSNP Utah)CYLD
SNP : HGBaseCYLD
Genetic variants : HAPMAPCYLD
1000_GenomesCYLD 
ICGC programENSG00000083799 
Cancer Gene: CensusCYLD 
Somatic Mutations in Cancer : COSMICCYLD 
CONAN: Copy Number AnalysisCYLD 
Mutations and Diseases : HGMDCYLD
OMIM132700    601606    605018    605041   
GENETestsCYLD
Disease Genetic AssociationCYLD
Huge Navigator CYLD [HugePedia]  CYLD [HugeCancerGEM]
Genomic VariantsCYLD  CYLD [DGVbeta]
Exome VariantCYLD
dbVarCYLD
ClinVarCYLD
snp3D : Map Gene to Disease1540
General knowledge
Homologs : HomoloGeneCYLD
Homology/Alignments : Family Browser (UCSC)CYLD
Phylogenetic Trees/Animal Genes : TreeFamCYLD
Chemical/Protein Interactions : CTD1540
Chemical/Pharm GKB GenePA27084
Drug Sensitivity CYLD
Clinical trialCYLD
Cancer Resource (Charite)ENSG00000083799
Other databases
Probes
Litterature
PubMed122 Pubmed reference(s) in Entrez
CoreMineCYLD
iHOPCYLD

Bibliography

Identification of the familial cylindromatosis tumour-suppressor gene.
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, Rasmussen S.
Nat Genet. 2000 Jun;25(2):160-5.
PMID 10835629
 
Spiradenocylindroma of the kidney: clinical and genetic findings suggesting a role of somatic mutation of the CYLD1 gene in the oncogenesis of an unusual renal neoplasm.
Strobel P, Zettl A, Ren Z, Starostik P, Riedmiller H, Storkel S, Muller-Hermelink HK, Marx A.
Am J Surg Pathol. 2002 Jan;26(1):119-24.
PMID 11756779
 
Loss of the cylindromatosis tumour suppressor inhibits apoptosis by activating NF-kappaB.
Brummelkamp TR, Nijman SM, Dirac AM, Bernards R.
Nature. 2003 Aug 14;424(6950):797-801.
PMID 12917690
 
The tumour suppressor CYLD negatively regulates NF-kappaB signalling by deubiquitination.
Kovalenko A, Chable-Bessia C, Cantarella G, Israel A, Wallach D, Courtois G.
Nature. 2003 Aug 14;424(6950):801-5.
PMID 12917691
 
CYLD is a deubiquitinating enzyme that negatively regulates NF-kappaB activation by TNFR family members.
Trompouki E, Hatzivassiliou E, Tsichritzis T, Farmer H, Ashworth A, Mosialos G.
Nature. 2003 Aug 14;424(6950):793-6.
PMID 12917689
 
Conventional and array-based comparative genomic hybridization analyses of novel cell lines harboring HPV18 from glassy cell carcinoma of the uterine cervix.
Hirai Y, Kawamata Y, Takeshima N, Furuta R, Kitagawa T, Kawaguchi T, Hasumi K, Sugai S, Noda T.
Int J Oncol. 2004 Apr;24(4):977-86.
PMID 15010838
 
Negative regulation of JNK signaling by the tumor suppressor CYLD.
Reiley W, Zhang M, Sun SC.
J Biol Chem. 2004 Dec 31;279(53):55161-7. Epub 2004 Oct 20.
PMID 15496400
 
Cyld inhibits tumor cell proliferation by blocking Bcl-3-dependent NF-kappaB signaling.
Massoumi R, Chmielarska K, Hennecke K, Pfeifer A, Fassler R.
Cell. 2006 May 19;125(4):665-77.
PMID 16713561
 
Regulation of T cell development by the deubiquitinating enzyme CYLD.
Reiley WW, Zhang M, Jin W, Losiewicz M, Donohue KB, Norbury CC, Sun SC.
Nat Immunol. 2006 Apr;7(4):411-7. Epub 2006 Feb 26.
PMID 16501569
 
TRPA1 is a substrate for de-ubiquitination by the tumor suppressor CYLD.
Stokes A, Wakano C, Koblan-Huberson M, Adra CN, Fleig A, Turner H.
Cell Signal. 2006 Oct;18(10):1584-94. Epub 2006 Feb 23.
PMID 16500080
 
Frequent engagement of the classical and alternative NF-kappaB pathways by diverse genetic abnormalities in multiple myeloma.
Annunziata CM, Davis RE, Demchenko Y, Bellamy W, Gabrea A, Zhan F, Lenz G, Hanamura I, Wright G, Xiao W, Dave S, Hurt EM, Tan B, Zhao H, Stephens O, Santra M, Williams DR, Dang L, Barlogie B, Shaughnessy JD Jr, Kuehl WM, Staudt LM.
Cancer Cell. 2007 Aug;12(2):115-30.
PMID 17692804
 
Reduced expression of CYLD in human colon and hepatocellular carcinomas.
Hellerbrand C, Bumes E, Bataille F, Dietmaier W, Massoumi R, Bosserhoff AK.
Carcinogenesis. 2007 Jan;28(1):21-7. Epub 2006 Jun 13.
PMID 16774947
 
Regulation of B cell homeostasis and activation by the tumor suppressor gene CYLD.
Hovelmeyer N, Wunderlich FT, Massoumi R, Jakobsen CG, Song J, Worns MA, Merkwirth C, Kovalenko A, Aumailley M, Strand D, Bruning JC, Galle PR, Wallach D, Fassler R, Waisman A.
J Exp Med. 2007 Oct 29;204(11):2615-27. Epub 2007 Oct 8.
PMID 17923499
 
Gene mapping and expression analysis of 16q loss of heterozygosity identifies WWOX and CYLD as being important in determining clinical outcome in multiple myeloma.
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, Morgan GJ.
Blood. 2007 Nov 1;110(9):3291-300. Epub 2007 Jul 3.
PMID 17609426
 
Deubiquitinating enzyme CYLD regulates the peripheral development and naive phenotype maintenance of B cells.
Jin W, Reiley WR, Lee AJ, Wright A, Wu X, Zhang M, Sun SC.
J Biol Chem. 2007 May 25;282(21):15884-93. Epub 2007 Mar 27.
PMID 17392286
 
Promiscuous mutations activate the noncanonical NF-kappaB pathway in multiple myeloma.
Keats JJ, Fonseca R, Chesi M, Schop R, Baker A, Chng WJ, Van Wier S, Tiedemann R, Shi CX, Sebag M, Braggio E, Henry T, Zhu YX, Fogle H, Price-Troska T, Ahmann G, Mancini C, Brents LA, Kumar S, Greipp P, Dispenzieri A, Bryant B, Mulligan G, Bruhn L, Barrett M, Valdez R, Trent J, Stewart AK, Carpten J, Bergsagel PL.
Cancer Cell. 2007 Aug;12(2):131-44.
PMID 17692805
 
Tumor suppressor CYLD acts as a negative regulator for non-typeable Haemophilus influenza-induced inflammation in the middle ear and lung of mice.
Lim JH, Jono H, Koga T, Woo CH, Ishinaga H, Bourne P, Xu H, Ha UH, Xu H, Li JD.
PLoS One. 2007 Oct 10;2(10):e1032.
PMID 17925880
 
Cylindromatosis and the CYLD gene: new lessons on the molecular principles of epithelial growth control.
Massoumi R, Paus R.
Bioessays. 2007 Dec;29(12):1203-14. (REVIEW)
PMID 18008375
 
Deubiquitinating enzyme CYLD negatively regulates the ubiquitin-dependent kinase Tak1 and prevents abnormal T cell responses.
Reiley WW, Jin W, Lee AJ, Wright A, Wu X, Tewalt EF, Leonard TO, Norbury CC, Fitzpatrick L, Zhang M, Sun SC.
J Exp Med. 2007 Jun 11;204(6):1475-85. Epub 2007 Jun 4.
PMID 17548520
 
The tumor suppressor CYLD regulates entry into mitosis.
Stegmeier F, Sowa ME, Nalepa G, Gygi SP, Harper JW, Elledge SJ.
Proc Natl Acad Sci U S A. 2007 May 22;104(21):8869-74. Epub 2007 May 10.
PMID 17495026
 
Regulation of early wave of germ cell apoptosis and spermatogenesis by deubiquitinating enzyme CYLD.
Wright A, Reiley WW, Chang M, Jin W, Lee AJ, Zhang M, Sun SC.
Dev Cell. 2007 Nov;13(5):705-16.
PMID 17981138
 
Pharmacologic inhibition of epigenetic modifications, coupled with gene expression profiling, reveals novel targets of aberrant DNA methylation and histone deacetylation in lung cancer.
Zhong S, Fields CR, Su N, Pan YX, Robertson KD.
Oncogene. 2007 Apr 19;26(18):2621-34. Epub 2006 Oct 9.
PMID 17043644
 
Inactivation of the CYLD deubiquitinase by HPV E6 mediates hypoxia-induced NF-kappaB activation.
An J, Mo D, Liu H, Veena MS, Srivatsan ES, Massoumi R, Rettig MB.
Cancer Cell. 2008 Nov 4;14(5):394-407.
PMID 18977328
 
Tumor suppressor CYLD: negative regulation of NF-kappaB signaling and more.
Courtois G.
Cell Mol Life Sci. 2008 Apr;65(7-8):1123-32. (REVIEW)
PMID 18193168
 
The tumour suppressor CYLD is a negative regulator of RIG-I-mediated antiviral response.
Friedman CS, O'Donnell MA, Legarda-Addison D, Ng A, Cardenas WB, Yount JS, Moran TM, Basler CF, Komuro A, Horvath CM, Xavier R, Ting AT.
EMBO Rep. 2008 Sep;9(9):930-6. Epub 2008 Jul 18.
PMID 18636086
 
The tumor suppressor CYLD regulates microtubule dynamics and plays a role in cell migration.
Gao J, Huo L, Sun X, Liu M, Li D, Dong JT, Zhou J.
J Biol Chem. 2008 Apr 4;283(14):8802-9. Epub 2008 Jan 24.
PMID 18222923
 
Deubiquitinating enzyme CYLD negatively regulates RANK signaling and osteoclastogenesis in mice.
Jin W, Chang M, Paul EM, Babu G, Lee AJ, Reiley W, Wright A, Zhang M, You J, Sun SC.
J Clin Invest. 2008 May;118(5):1858-66.
PMID 18382763
 
Genistein mediated histone acetylation and demethylation activates tumor suppressor genes in prostate cancer cells.
Kikuno N, Shiina H, Urakami S, Kawamoto K, Hirata H, Tanaka Y, Majid S, Igawa M, Dahiya R.
Int J Cancer. 2008 Aug 1;123(3):552-60.
PMID 18431742
 
CYLD is a crucial negative regulator of innate immune response in Escherichia coli pneumonia.
Lim JH, Ha UH, Woo CH, Xu H, Li JD.
Cell Microbiol. 2008 Nov;10(11):2247-56. Epub 2008 Jul 16.
PMID 18643924
 
Capturing protein tails by CAP-Gly domains.
Steinmetz MO, Akhmanova A.
Trends Biochem Sci. 2008 Nov;33(11):535-45. Epub 2008 Oct 4. (REVIEW)
PMID 18835717
 
Essential role of sequestosome 1/p62 in regulating accumulation of Lys63-ubiquitinated proteins.
Wooten MW, Geetha T, Babu JR, Seibenhener ML, Peng J, Cox N, Diaz-Meco MT, Moscat J.
J Biol Chem. 2008 Mar 14;283(11):6783-9. Epub 2008 Jan 3.
PMID 18174161
 
Regulation of IkappaB kinase-related kinases and antiviral responses by tumor suppressor CYLD.
Zhang M, Wu X, Lee AJ, Jin W, Chang M, Wright A, Imaizumi T, Sun SC.
J Biol Chem. 2008 Jul 4;283(27):18621-6. Epub 2008 May 8.
PMID 18467330
 
Multiple trichoepitheliomas - a novel mutation in the CYLD gene.
Amaro C, Freitas I, Lamarao P, Afonso A, Skrzypczak M, Heinritz W.
J Eur Acad Dermatol Venereol. 2009 Nov 19. [Epub ahead of print]
PMID 19929939
 
Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.
Blake PW, Toro JR.
Hum Mutat. 2009 Jul;30(7):1025-36. (REVIEW)
PMID 19462465
 
Morphologic diversity of malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma based on the study of 24 cases, sporadic or occurring in the setting of Brooke-Spiegler syndrome.
Kazakov DV, Zelger B, Rutten A, Vazmitel M, Spagnolo DV, Kacerovska D, Vanecek T, Grossmann P, Sima R, Grayson W, Calonje E, Koren J, Mukensnabl P, Danis D, Michal M.
Am J Surg Pathol. 2009 May;33(5):705-19.
PMID 19194280
 
Down-regulation of CYLD expression by Snail promotes tumor progression in malignant melanoma.
Massoumi R, Kuphal S, Hellerbrand C, Haas B, Wild P, Spruss T, Pfeifer A, Fassler R, Bosserhoff AK.
J Exp Med. 2009 Jan 16;206(1):221-32. Epub 2009 Jan 5.
PMID 19124656
 
Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas.
Nasti S, Pastorino L, Bruno W, Gargiulo S, Battistuzzi L, Zavattaro E, Leigheb G, De Francesco V, Tulli A, Mari F, Scarra GB, Ghiorzo P.
Clin Genet. 2009 Nov;76(5):481-5. Epub 2009 Oct 6.
PMID 19807742
 
Regulation and cellular roles of ubiquitin-specific deubiquitinating enzymes.
Reyes-Turcu FE, Ventii KH, Wilkinson KD.
Annu Rev Biochem. 2009;78:363-97. (REVIEW)
PMID 19489724
 
Brooke-Spiegler syndrome: report of a case with a novel mutation in the CYLD gene and different types of somatic mutations in benign and malignant tumors.
Kazakov DV, Schaller J, Vanecek T, Kacerovska D, Michal M.
J Cutan Pathol. 2010 Feb 4. [Epub ahead of print]
PMID 20132422
 
A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma.
Wang FX, Yang LJ, Li M, Zhang SL, Zhu XH.
Arch Dermatol Res. 2010 Jan;302(1):67-70. Epub 2009 Nov 13.
PMID 19911186
 
CYLD negatively regulates cell-cycle progression by inactivating HDAC6 and increasing the levels of acetylated tubulin.
Wickstrom SA, Masoumi KC, Khochbin S, Fassler R, Massoumi R.
EMBO J. 2010 Jan 6;29(1):131-44. Epub 2009 Nov 5.
PMID 19893491
 
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Contributor(s)

Written05-2010Gilles Courtois
INSERM U781, Hopital Necker-Enfants Malades, Paris, France

Citation

This paper should be referenced as such :
Courtois G . CYLD (cylindromatosis (turban tumor syndrome)). Atlas Genet Cytogenet Oncol Haematol. May 2010 .
URL : http://AtlasGeneticsOncology.org/Genes/CYLDID40232ch16q12.html

The various updated versions of this paper are referenced and archived by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/44956/1/05-2010-CYLDID40232ch16q12.pdf   [ Bibliographic record ]

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