CYLD (cylindromatosis (turban tumor syndrome))

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CYLD (cylindromatosis (turban tumor syndrome))

Identity

Other names	CDMT
	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
Entrez_Gene (NCBI)	CYLD 1540 cylindromatosis (turban tumor syndrome)
	Cards
Atlas	CYLDID40232ch16q12
GeneCards (Weizmann)	CYLD
Ensembl (Hinxton)	ENSG00000083799 [Gene_View] chr16:50775961-50835846 [Contig_View] CYLD [Vega]
AceView (NCBI)	CYLD
Genatlas (Paris)	CYLD
SOURCE (Stanford)	NM_001042355 NM_001042412 NM_015247
	Genomic and cartography
GoldenPath (UCSC)	CYLD - 16q12.1 chr16:50775961-50835846 + 16q12.1 [Description] (hg19-Feb_2009)
Ensembl	CYLD - 16q12.1 [CytoView]
Mapping of homologs : NCBI	CYLD [Mapview]
OMIM	132700 601606 605018 605041
	Gene and transcription
Genbank (Entrez)	AF161542 AJ250014 AK000187 AK024212 AK024348
RefSeq transcript (SRS)	NM_001042355 NM_001042412 NM_015247
RefSeq transcript (Entrez)	NM_001042355 NM_001042412 NM_015247
RefSeq genomic (SRS)	AC_000148 NC_000016 NC_018927 NG_012061 NT_010498 NW_001838288 NW_004078087
RefSeq genomic (Entrez)	AC_000148 NC_000016 NC_018927 NG_012061 NT_010498 NW_001838288 NW_004078087
Consensus coding sequences : CCDS (NCBI)	CYLD
Cluster EST : Unigene	Hs.578973 [ SRS ] Hs.578973 [ NCBI ]
CGAP (NCI)	Hs.578973
Alternative Splicing : Fast-db (Paris)	GSHG0011183
Alternative Splicing Gallery	ENSG00000083799
Gene Expression	CYLD [ NCBI-GEO ] CYLD [ EBI - ARRAY_EXPRESS ]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	Q9NQC7 (SRS) Q9NQC7 (Uniprot)
NextProt	Q9NQC7
With graphics : InterPro	Q9NQC7
Splice isoforms : SwissVar	Q9NQC7(Swissvar)
Domaine pattern : Prosite (SRS)	CAP_GLY_1 (PS00845) CAP_GLY_2 (PS50245) UCH_2_1 (PS00972) UCH_2_2 (PS00973) UCH_2_3 (PS50235)
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 (SRS)	CAP-Gly_domain Pept_C19ubi-hydrolase_C_CS Peptidase_C19
Domains : Interpro (EBI)	CAP-Gly_domain Pept_C19ubi-hydrolase_C_CS Peptidase_C19
Related proteins : CluSTr	Q9NQC7
Domain families : Pfam (SRS)	CAP_GLY (PF01302) UCH (PF00443)
Domain families : Pfam (Sanger)	CAP_GLY (PF01302) UCH (PF00443)
Domain families : Pfam (NCBI)	pfam01302 pfam00443
Domain families : Smart (EMBL)	CAP_GLY (SM01052)
DMDM	1540
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 Atlas	ENSG00000083799
HPRD	05427
IPI	IPI00106663 IPI00456609 IPI00973562 IPI01014428
	Protein Interaction databases
DIP (DOE-UCLA)	Q9NQC7
IntAct (EBI)	Q9NQC7
FunCoup	ENSG00000083799
REACTOME	CYLD
Protein Interaction Database	1540
BioGRID	CYLD
InParanoid	Q9NQC7
Interologous Interaction database	Q9NQC7
IntegromeDB	CYLD
	Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)	CYLD
SNP (GeneSNP Utah)	CYLD
SNP : HGBase	CYLD
Genetic variants : HAPMAP	CYLD
Cancer Gene: Census	CYLD
Somatic Mutations in Cancer : COSMIC	CYLD
CONAN: Copy Number Analysis	CYLD
Mutations and Diseases : HGMD	CYLD
OMIM	132700 601606 605018 605041
GENETests	132700 601606 605018 605041
Disease Genetic Association	CYLD
Huge Navigator	CYLD [HugePedia] CYLD [HugeCancerGEM]
Genomic Variants	CYLD CYLD [DGVbeta]
ClinVar	CYLD
snp3D : Map Gene to Disease	1540
	General knowledge
Homologs : HomoloGene	CYLD
Homology/Alignments : Family Browser (UCSC)	CYLD
Phylogenetic Trees/Animal Genes : TreeFam	CYLD
Catalytic activity : Enzyme	3.4.19.12 [ Enzyme-Expasy ] 3.4.19.12 [ Enzyme-SRS ] 3.4.19.12 [ IntEnz-EBI ] 3.4.19.12 [ BRENDA ] 3.4.19.12 [ KEGG ]
Chemical/Protein Interactions : CTD	1540
Chemical/Pharm GKB Gene	PA27084
Drug Sensitivity	CYLD
Clinical trial	CYLD
Cancer Resource (Charite)	ENSG00000083799
Ontology : AmiGO	ubiquitin thiolesterase activity ubiquitin-specific protease activity protein binding cytosol cytosol cytoplasmic microtubule ubiquitin-dependent protein catabolic process induction of apoptosis cell cycle regulation of mitotic cell cycle zinc ion binding Wnt receptor signaling pathway protein kinase binding midbody extrinsic to internal 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
Ontology : EGO-EBI	ubiquitin thiolesterase activity ubiquitin-specific protease activity protein binding cytosol cytosol cytoplasmic microtubule ubiquitin-dependent protein catabolic process induction of apoptosis cell cycle regulation of mitotic cell cycle zinc ion binding Wnt receptor signaling pathway protein kinase binding midbody extrinsic to internal 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
	Other databases
	Probes
	Litterature
PubMed	116 Pubmed reference(s) in Entrez
PubGene	CYLD
iHOP	CYLD

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)

Written	05-2010	Gilles 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

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/44956/1/05-2010-CYLDID40232ch16q12.pdf [ Bibliographic record ]

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 14 16:53:07 CEST 2013

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