Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy

Journal of Molecular Medicine

Volumn 89, Issue 2, 2011, Pages 193-202

  Nectoux, Juliette ^a,b,c   Fichou, Yann ^a,b   Cagnard, Nicolas ^a,b   Bahi Buisson, Nadia ^d   Nusbaum, Patrick ^c   Letourneur, Franck ^a,b   Chelly, Jamel ^a,b,c   Bienvenu, Thierry ^a,b,c,e  

^a CNRS   (France)

^b INSERM   (France)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e INSTITUT COCHIN   (France)

Author keywords

CDKL5; Epileptic encephalopathy; MAP3K5; Rett syndrome

Indexed keywords

APOPTOSIS SIGNAL REGULATING KINASE 1; CACNB2 PROTEIN; CYCLIN DEPENDENT KINASE 5; CYSTATHIONINE BETA SYNTHASE; CYSTEINE DIOXYGENASE; CYSTEINE DIOXYGENASE TYPE 1; ENOX1 PROTEIN; FIBULIN; FIBULIN 7; GAMMA SARCOGLYCAN; HOMEOBOX B7 PROTEIN; HOMEODOMAIN PROTEIN; INTERLEUKIN 13 RECEPTOR ALPHA2; IRX1 PROTEIN; KRUPPEL LIKE FACTOR 2; LIMS2 PROTEIN; MAMLD1 PROTEIN; MRTO4 PROTEIN; PERIPLAKIN; PROSTAGLANDIN ENDOPEROXIDE SYNTHASE 2; PROSTAGLANDIN SYNTHASE; RHO GUANINE NUCLEOTIDE BINDING PROTEIN; RHO GUANINE NUCLEOTIDE BINDING PROTEIN 29; SECRETED FRIZZLED RELATED PROTEIN 1; SERTAD4 PROTEIN; TRANSCRIPTION FACTOR PITX2; TRANSCRIPTOME; TRANSFORMING GROWTH FACTOR ALPHA; TRIPARTITE MOTIF PROTEIN 47; ULBP2 PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CASE REPORT; CELL CLONING; EPILEPSY; FEMALE; FIBROBLAST CULTURE; FRAMESHIFT MUTATION; GENE EXPRESSION PROFILING; GENE IDENTIFICATION; HUMAN; HUMAN TISSUE; NERVE CELL; NUCLEOTIDE SEQUENCE; RETT SYNDROME; RNA ANALYSIS; SEVERE EPILEPTIC ENCEPHALOPATHY; WILD TYPE;

BRAIN; CLONE CELLS; CLUSTER ANALYSIS; FEMALE; FIBROBLASTS; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENOTYPE; HUMANS; INFANT; INTELLECTUAL DISABILITY; MAP KINASE KINASE KINASE 5; MUTATION; ORGAN SPECIFICITY; PROTEIN-SERINE-THREONINE KINASES; RNA INTERFERENCE; SPASMS, INFANTILE; X CHROMOSOME INACTIVATION;

EID: 79951670494     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00109-010-0699-x     Document Type: Article

References (27)

1. RC Allen HY Zoghbi AB Moseley HM Rosenblatt JW Belmont 1992 Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation Am J Hum Genet 51 1229 1239 1:CAS:528:DyaK3sXhvV2htL4%3D 1281384 (Pubitemid 23001082)
2. HL Archer J Evans S Edwards J Colley R Newbury-Ecob F O'Callaghan M Huyton M O'Regan J Tolmie J Sampson, et al. 2006 CDKL5 mutations cause infantile spasms, early onset seizures and severe mental retardation in female patients J Med Genet 43 729 734 1:CAS:528:DC%2BD28XhtFGrt7fF 10.1136/jmg.2006.041467 16611748 (Pubitemid 44483915)
3. N Bahi-Buisson A Kaminska N Boddaert M Rio A Afenjar M Gérard F Giuliano J Motte D Héron MA Morel, et al. 2008 The three stages of epilepsy in patients with CDKL5 mutations Epilepsia 49 1027 1037 1:CAS:528:DC%2BD1cXosVagsbc%3D 10.1111/j.1528-1167.2007.01520.x 18266744 (Pubitemid 351793996)
4. N Bahi-Buisson J Nectoux H Rosas-Vargas M Milh N Boddaert B Girard C Cances D Ville A Afenjar M Rio, et al. 2008 Key clinical features to identify girls with CDKL5 mutations Brain 131 2647 2661 10.1093/brain/awn197 18790821
5. N Bahi-Buisson B Girard A Gautier J Nectoux Y Fichou Y Saillour K Poirier J Chelly T Bienvenu 2010 Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene Am J Med Genet B Neuropsychiatr Genet 153B 202 207 1:CAS:528: DC%2BC3cXitVKitbs%3D 19455595
6. I Bertani L Rusconi F Bolognese G Forlani B Conca L De Monte G Badaracco N Landsberger C Kilstrup-Nielsen 2006 Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation J Biol Chem 281 32048 32056 1:CAS:528:DC%2BD28XhtVOrtrnN 10.1074/jbc.M606325200 16935860 (Pubitemid 46041465)
7. WF Chen A Wilson R Scollay K Shortman 1982 Limit-dilution assay and clonal expansion of all T cells capable of proliferation J Immunol Methods 52 307 322 1:STN:280:DyaL3s%2FjtF2msQ%3D%3D 10.1016/0022-1759(82)90003-5 6982297 (Pubitemid 12044729)
8. Q Chen YC Zhu S Miao J Zheng L Xu Y Zhou D Li C Zhang J Tao ZQ Xiong 2010 CDKL5, a protein associated with Rett syndrome, regulates neuronal morphogenesis via Rac1 signaling J Neurosci 30 12777 12786 1:CAS:528: DC%2BC3cXht1CmsbjN 10.1523/JNEUROSCI.1102-10.2010 20861382
9. GJ Feng E Kellett CA Scorer J Wilde JH White G Milligan 2003 Selective interactions between helix VIII of the human mu-opioid receptors and the C terminus of periplakin disrupt G protein activation J Biol Chem 278 33400 33407 1:CAS:528:DC%2BD3sXms1alt78%3D 10.1074/jbc.M305866200 12810704 (Pubitemid 37055793)
10. Y Fichou E Bieth N Bahi-Buisson J Nectoux B Girard J Chelly Y Chaix T Bienvenu 2009 CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy Neurology 1 77 78 10.1212/01.wnl.0000349658.05677.d7
11. Gimelbrant A, Hutchinson JN, Thompson BR, Chess A (2007) Widespread monoallelic expression on human autosomes. Science 318:1136-1140 (Pubitemid 350134896)
12. Y Higuchi K Otsu K Nishida S Hirotani H Nakayama O Yamaguchi S Hikoso K Kashiwase T Takeda T Watanabe T Mano Y Matsumura H Ueno M Hori 2003 The small GTP-binding protein Rac1 induces cardiac myocyte hypertrophy through the activation of apoptosis signal-regulating kinase 1 and nuclear factor-kappa B J Biol Chem 278 20770 20777 1:CAS:528:DC%2BD3sXkt1Wis70%3D 10.1074/jbc.M213203200 12672819 (Pubitemid 36806381)
13. VM Kalscheuer J Tao A Donnelly G Hollway E Schwinger S Kübart C Menzel M Hoeltzenbein N Tommerup H Eyre, et al. 2003 Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation Am J Hum Genet 72 1401 1411 1:CAS:528:DC%2BD3sXktlyit78%3D 10.1086/375538 12736870 (Pubitemid 36628380)
14. K Kumakura H Nomura T Toyoda K Hashikawa T Noguchi K Takeda H Ichijo M Tsunoda T Funatsu D Ikegami, et al. 2010 Hyperactivity in novel environment with increased dopamine and impaired novelty preference in apoptosis signal-regulating kinase 1 (ASK1)-deficient mice Neurosci Res 66 313 320 1:CAS:528:DC%2BC3cXitVaqu7c%3D 10.1016/j.neures.2009.12.003 20006657
15. C Lin B Franco MR Rosner 2005 CDKL5/stk9 kinase inactivation is associated with neuronal developmental disorders Hum Mol Genet 14 3775 3786 1:CAS:528:DC%2BD2MXhtlChsrzJ 10.1093/hmg/ddi391 16330482 (Pubitemid 43020080)
16. F Mari S Azimonti I Bertani F Bolognese E Colombo R Caselli E Scala I Longo S Grosso C Pescucci, et al. 2005 CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome Hum Mol Genet 14 1935 1946 1:CAS:528:DC%2BD2MXlslyjsrk%3D 10.1093/hmg/ddi198 15917271 (Pubitemid 41418030)
17. JN McClintick HJ Edenberg 2006 Effects of filtering by present call on analysis of microarray experiments BMC Bioinform 7 49 10.1186/1471-2105-7-49
18. H Murdoch GJ Feng D Bächner L Ormiston JH White D Richter G Milligan 2005 Periplakin interferes with G protein activation by the melanin-concentrating hormone receptor-1 by binding to the proximal segment of the receptor C-terminal tail J Biol Chem 280 8208 8220 1:CAS:528: DC%2BD2MXhs1yiu78%3D 10.1074/jbc.M405215200 15590649 (Pubitemid 40349722)
19. J Nectoux Y Fichou H Rosas-Vargas N Cagnard N Bahi-Buisson P Nusbaum F Letourneur J Chelly T Bienvenu 2010 Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes J Cell Mol Med 14 1962 1974 1:CAS:528:DC%2BC3cXht1ClurvJ 10.1111/j.1582-4934.2010.01107.x 20569274
20. S Ricciardi C Kilstrup-Nielsen T Bienvenu A Jacquette N Landsberger V Broccoli 2009 CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery Hum Mol Genet 18 4590 4602 1:CAS:528:DC%2BD1MXhtlygs7jN 10.1093/hmg/ddp426 19740913
21. K Takeda T Hatai TS Hamazaki H Nishitoh M Saitoh H Ichijo 2000 Apoptosis signal-regulating kinase 1 (ASK1) induces neuronal differentiation and survival of PC12 cells J Biol Chem 275 9805 9813 1:CAS:528:DC%2BD3cXitlCqsbw%3D 10.1074/jbc.275.13.9805 10734135 (Pubitemid 30185216)
22. K Takeda A Matsuzawa H Nishitoh K Tobiume S Kishida J Ninomiya-Tsuji K Matsumoto H Ichijo 2004 Involvement of ASK1 in Ca2+-induced p38 MAP kinase activation EMBO Rep 5 161 166 1:CAS:528:DC%2BD2cXnvFaksA%3D%3D 10.1038/sj.embor.7400072 14749717 (Pubitemid 38401195)
23. J Tao H Van Esch M Hagedorn-Greiwe K Hoffmann B Moser M Raynaud J Sperner JP Fryns E Schwinger J Gécz, et al. 2004 Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation Am J Hum Genet 75 1149 1154 1:CAS:528: DC%2BD2cXhtVegsrfM 10.1086/426460 15499549 (Pubitemid 39532084)
24. GM Thomas RL Huganir 2004 MAPK cascade signalling and synaptic plasticity Nat Rev Neurosci 5 173 183 1:CAS:528:DC%2BD2cXhsVWnsb8%3D 10.1038/nrn1346 14976517 (Pubitemid 38252474)
25. J Traynor P Agarwal L Lazzeroni U Francke 2002 Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations BMC Med Genet 3 12 10.1186/1471-2350-3-12 12418965 (Pubitemid 38692957)
26. LS Weaving J Christodoulou SL Williamson KL Friend OL McKenzie H Archer J Evans A Clarke GJ Pelka PP Tam, et al. 2004 Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation Am J Hum Genet 75 1079 1093 1:CAS:528:DC%2BD2cXhtVegsrbN 10.1086/426462 15492925 (Pubitemid 39532075)
27. JY Yu SL DeRuiter DL Turner 2002 RNA interference by expression of short-interfering RNAs and hairpin RNAs in mammalian cells Proc Natl Acad Sci USA 99 6047 6052 1:CAS:528:DC%2BD38XjslWgu7s%3D 10.1073/pnas.092143499 11972060 (Pubitemid 34493262)