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Volumn 20, Issue 3, 2012, Pages 271-276

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

(20)  Braunholz, Diana a   Hullings, Melanie b   Gil Rodríguez, María Concepcion a,c   Fincher, Christopher T b   Mallozzi, Mark B b   Loy, Elizabeth b   Albrecht, Melanie a   Kaur, Maninder b   Limon, Janusz d   Rampuria, Abhinav b   Clark, Dinah b   Kline, Antonie e   Eckhold, Juliane a   Tzschach, Andreas f   Hennekam, Raoul g   Gillessen Kaesbach, Gabriele a   Wierzba, Jolanta d   Krantz, Ian D b,h   Deardorff, Matthew A b,h   Kaiser, Frank J a  


Author keywords

cohesin; Cornelia de Lange syndrome; MAU2; NIPBL; SCC4; sister chromatid cohesion

Indexed keywords

CAENORHABDITIS ELEGANS PROTEIN; DROSOPHILA PROTEIN;

EID: 84857189905     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.175     Document Type: Article
Times cited : (19)

References (49)
  • 2
    • 0001781268 scopus 로고    scopus 로고
    • Cornelia de Lange syndrome: Clinical features, common complications and long-term prognosis
    • Ireland M: Cornelia de Lange syndrome: clinical features, common complications and long-term prognosis. Curr Paediatr 1996; 6: 69-73. (Pubitemid 126691354)
    • (1996) Current Paediatrics , vol.6 , Issue.2 , pp. 69-73
    • Ireland, M.1
  • 4
    • 33745909174 scopus 로고    scopus 로고
    • Genotype-Phenotype correlations of 39 patients with Cornelia de Lange syndrome: The Dutch experience
    • Bhuiyan Z, Klein M, Hammond P et al: Genotype-Phenotype correlations of 39 patients with Cornelia de Lange syndrome: the Dutch experience. J Med Genet 2005; 43: 568-575.
    • (2005) J Med Genet , vol.43 , pp. 568-575
    • Bhuiyan, Z.1    Klein, M.2    Hammond, P.3
  • 7
    • 2642565901 scopus 로고    scopus 로고
    • NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
    • DOI 10.1038/ng1363
    • Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T: NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 2004; 36: 636-641. (Pubitemid 38715993)
    • (2004) Nature Genetics , vol.36 , Issue.6 , pp. 636-641
    • Tonkin, E.T.1    Wang, T.-J.2    Lisgo, S.3    Bamshad, M.J.4    Strachan, T.5
  • 10
    • 77950443282 scopus 로고    scopus 로고
    • Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome
    • Pie J, Gil-Rodriguez MC, Ciero M et al: Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. Am J Med Genet A 2010; 152A: 924-929.
    • (2010) Am J Med Genet A , vol.152 A , pp. 924-929
    • Pie, J.1    Gil-Rodriguez, M.C.2    Ciero, M.3
  • 11
    • 33847704182 scopus 로고    scopus 로고
    • Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations
    • Borck G, Zarhrate M, Bonnefont JP, Munnich A, Cormier-Daire V, Colleaux L: Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. Hum Mutat 2007; 28: 205-206.
    • (2007) Hum Mutat , vol.28 , pp. 205-206
    • Borck, G.1    Zarhrate, M.2    Bonnefont, J.P.3    Munnich, A.4    Cormier-Daire, V.5    Colleaux, L.6
  • 12
    • 33847196427 scopus 로고    scopus 로고
    • Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation
    • Deardorff MA, Kaur M, Yaeger D et al: Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet 2007; 80: 485-494.
    • (2007) Am J Hum Genet , vol.80 , pp. 485-494
    • Deardorff, M.A.1    Kaur, M.2    Yaeger, D.3
  • 13
    • 70350702802 scopus 로고    scopus 로고
    • SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome
    • Liu J, Feldman R, Zhang Z et al: SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Hum Mutat 2009.
    • (2009) Hum Mutat
    • Liu, J.1    Feldman, R.2    Zhang, Z.3
  • 14
    • 33646379870 scopus 로고    scopus 로고
    • X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
    • Musio A, Selicorni A, Focarelli ML et al: X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 2006; 38: 528-530.
    • (2006) Nat Genet , vol.38 , pp. 528-530
    • Musio, A.1    Selicorni, A.2    Focarelli, M.L.3
  • 15
    • 4544326520 scopus 로고    scopus 로고
    • A novel gene is disrupted by a Cornelia de Lange-associated translocation breakpoint at 3q26 .3
    • Tonkin E, Smith M, Eichhorn P et al: A novel gene is disrupted by a Cornelia de Lange-associated translocation breakpoint at 3q26 .3. Am J Hum Genet 2001; 69: A618.
    • (2001) Am J Hum Genet , vol.69
    • Tonkin, E.1    Smith, M.2    Eichhorn, P.3
  • 16
    • 0033018842 scopus 로고    scopus 로고
    • Nipped-B, a Drosophila homologue of chromosomal adherins, participates in activation by remote enhancers in the cut and Ultrabithorax genes
    • Rollins RA, Morcillo P, Dorsett D: Nipped-B, a Drosophila homologue of chromosomal adherins, participates in activation by remote enhancers in the cut and Ultrabithorax genes. Genetics 1999; 152: 577-593. (Pubitemid 29272711)
    • (1999) Genetics , vol.152 , Issue.2 , pp. 577-593
    • Rollins, R.A.1    Morcillo, P.2    Dorsett, D.3
  • 17
  • 18
    • 4644280172 scopus 로고    scopus 로고
    • Scc2 couples replication licensing to sister chromatid cohesion in Xenopus egg extracts
    • DOI 10.1016/j.cub.2004.07.053, PII S0960982204005603
    • Gillespie PJ, Hirano T: Scc2 couples replication licensing to sister chromatid cohesion in Xenopus egg extracts. Curr Biol 2004; 14: 1598-1603. (Pubitemid 39290060)
    • (2004) Current Biology , vol.14 , Issue.17 , pp. 1598-1603
    • Gillespie, P.J.1    Hirano, T.2
  • 19
    • 5444220661 scopus 로고    scopus 로고
    • Recruitment of Xenopus Scc2 and cohesin to chromatin requires the pre-replication complex
    • DOI 10.1038/ncb1177
    • Takahashi TS, Yiu P, Chou MF, Gygi S, Walter JC: Recruitment of Xenopus Scc2 and cohesin to chromatin requires the pre-replication complex. Nat Cell Biol 2004; 6: 991-996. (Pubitemid 39359852)
    • (2004) Nature Cell Biology , vol.6 , Issue.10 , pp. 991-996
    • Takahashi, T.S.1    Yiu, P.2    Chou, M.F.3    Gygi, S.4    Walter, J.C.5
  • 20
    • 73349127026 scopus 로고    scopus 로고
    • Cohesin: Its roles and mechanisms
    • Nasmyth K, Haering CH: Cohesin: its roles and mechanisms. Annu Rev Genet 2009; 43: 525-558.
    • (2009) Annu Rev Genet , vol.43 , pp. 525-558
    • Nasmyth, K.1    Haering, C.H.2
  • 23
    • 56649123545 scopus 로고    scopus 로고
    • The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications
    • Jahnke P, Xu W, Wulling M et al: The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications. Nucleic Acids Res 2008; 36: 6450-6458.
    • (2008) Nucleic Acids Res , vol.36 , pp. 6450-6458
    • Jahnke, P.1    Xu, W.2    Wulling, M.3
  • 24
    • 76149096854 scopus 로고    scopus 로고
    • Cohesinopathy mutations disrupt the subnuclear organization of chromatin
    • Gard S, Light W, Xiong B et al: Cohesinopathy mutations disrupt the subnuclear organization of chromatin. J Cell Biol 2009; 187: 455-462.
    • (2009) J Cell Biol , vol.187 , pp. 455-462
    • Gard, S.1    Light, W.2    Xiong, B.3
  • 25
    • 78049391383 scopus 로고    scopus 로고
    • Dosage-sensitive regulation of cohesin chromosome binding and dynamics by Nipped-B, Pds5, and Wapl
    • Gause M, Misulovin Z, Bilyeu A, Dorsett D: Dosage-sensitive regulation of cohesin chromosome binding and dynamics by Nipped-B, Pds5, and Wapl. Mol Cell Biol 2010; 30: 4940-4951.
    • (2010) Mol Cell Biol , vol.30 , pp. 4940-4951
    • Gause, M.1    Misulovin, Z.2    Bilyeu, A.3    Dorsett, D.4
  • 26
    • 38349177548 scopus 로고    scopus 로고
    • Association of cohesin and Nipped-B with transcriptionally active regions of the Drosophila melanogaster genome
    • Misulovin Z, Schwartz YB, Li XY et al: Association of cohesin and Nipped-B with transcriptionally active regions of the Drosophila melanogaster genome. Chromosoma 2008; 117: 89-102.
    • (2008) Chromosoma , vol.117 , pp. 89-102
    • Misulovin, Z.1    Schwartz, Y.B.2    Li, X.Y.3
  • 28
    • 63049139061 scopus 로고    scopus 로고
    • Cohesin, gene expression and development: Lessons from Drosophila
    • Dorsett D: Cohesin, gene expression and development: lessons from Drosophila. Chromosome Res 2009; 17: 185-200.
    • (2009) Chromosome Res , vol.17 , pp. 185-200
    • Dorsett, D.1
  • 29
    • 77955267029 scopus 로고    scopus 로고
    • Positive regulation of c-Myc by cohesin is direct, and evolutionarily conserved
    • Rhodes JM, Bentley FK, Print CG et al: Positive regulation of c-Myc by cohesin is direct, and evolutionarily conserved. Dev Biol 2010; 344: 637-649.
    • (2010) Dev Biol , vol.344 , pp. 637-649
    • Rhodes, J.M.1    Bentley, F.K.2    Print, C.G.3
  • 31
    • 70349690201 scopus 로고    scopus 로고
    • Multiple organ system defects and transcriptional dysregulation in the Nipbl(f/r) mouse a model of Cornelia de Lange Syndrome
    • Kawauchi S, Calof AL, Santos R et al: Multiple organ system defects and transcriptional dysregulation in the Nipbl(f/r) mouse, a model of Cornelia de Lange Syndrome. PLoS Genet 2009; 5: e1000650.
    • (2009) PLoS Genet , vol.5
    • Kawauchi, S.1    Calof, A.L.2    Santos, R.3
  • 32
    • 77957139539 scopus 로고    scopus 로고
    • Mediator and cohesin connect gene expression and chromatin architecture
    • Kagey MH, Newman JJ, Bilodeau S et al: Mediator and cohesin connect gene expression and chromatin architecture. Nature 2010; 467: 430-435.
    • (2010) Nature , vol.467 , pp. 430-435
    • Kagey, M.H.1    Newman, J.J.2    Bilodeau, S.3
  • 33
    • 66249144416 scopus 로고    scopus 로고
    • Transcriptional dysregulation in NIPBL and cohesin mutant human cells
    • Liu J, Zhang Z, Bando M et al: Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biol 2009; 7: e1000119.
    • (2009) PLoS Biol , vol.7
    • Liu, J.1    Zhang, Z.2    Bando, M.3
  • 35
    • 70349613201 scopus 로고    scopus 로고
    • The Scc2/Scc4 cohesin loader determines the distribution of cohesin on budding yeast chromosomes
    • Kogut I, Wang J, Guacci V, Mistry RK, Megee PC: The Scc2/Scc4 cohesin loader determines the distribution of cohesin on budding yeast chromosomes. Genes Dev 2009; 23: 2345-2357.
    • (2009) Genes Dev , vol.23 , pp. 2345-2357
    • Kogut, I.1    Wang, J.2    Guacci, V.3    Mistry, R.K.4    Megee, P.C.5
  • 36
    • 33646199189 scopus 로고    scopus 로고
    • Human Scc4 is required for cohesin binding to chromatin, sister-chromatid cohesion, and mitotic progression
    • Watrin E, Schleiffer A, Tanaka K, Eisenhaber F, Nasmyth K, Peters JM: Human Scc4 is required for cohesin binding to chromatin, sister-chromatid cohesion, and mitotic progression. Curr Biol 2006; 16: 863-874.
    • (2006) Curr Biol , vol.16 , pp. 863-874
    • Watrin, E.1    Schleiffer, A.2    Tanaka, K.3    Eisenhaber, F.4    Nasmyth, K.5    Peters, J.M.6
  • 37
    • 33747368147 scopus 로고    scopus 로고
    • Metazoan Scc4 Homologs link sister chromatid cohesion to cell and axon migration Guidance
    • Seitan VC, Banks P, Laval S et al: Metazoan Scc4 Homologs link sister chromatid cohesion to cell and axon migration Guidance. PLoS Biol 2006; 4: 1411-1425.
    • (2006) PLoS Biol , vol.4 , pp. 1411-1425
    • Seitan, V.C.1    Banks, P.2    Laval, S.3
  • 38
    • 47549096990 scopus 로고    scopus 로고
    • Cdc7-Drf1 kinase links chromosome cohesion to the initiation of DNA replication in Xenopus egg extracts
    • DOI 10.1101/gad.1683308
    • Takahashi TS, Basu A, Bermudez V, Hurwitz J, Walter JC: Cdc7-Drf1 kinase links chromosome cohesion to the initiation of DNA replication in Xenopus egg extracts. Genes Dev 2008; 22: 1894-1905. (Pubitemid 352008638)
    • (2008) Genes and Development , vol.22 , Issue.14 , pp. 1894-1905
    • Takahashi, T.S.1    Basu, A.2    Bermudez, V.3    Hurwitz, J.4    Walter, J.C.5
  • 39
    • 12344302590 scopus 로고    scopus 로고
    • Mau-2 acts cell-autonomously to guide axonal migrations in Caenorhabditis elegans
    • DOI 10.1242/dev.01433
    • Benard CY, Kebir H, Takagi S, Hekimi S: mau-2 acts cell-autonomously to guide axonal migrations in Caenorhabditis elegans. Development 2004; 131: 5947-5958. (Pubitemid 40123910)
    • (2004) Development , vol.131 , Issue.23 , pp. 5947-5958
    • Benard, C.Y.1    Kebir, H.2    Takagi, S.3    Hekimi, S.4
  • 41
    • 33847407062 scopus 로고    scopus 로고
    • Mutation scanning the GJB1 gene with high-resolution melting analysis: Implications for mutation scanning of genes for Charcot-Marie-Tooth disease
    • DOI 10.1373/clinchem.2006.080010
    • Kennerson ML, Warburton T, Nelis E et al: Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. Clin Chem 2007; 53: 349-352. (Pubitemid 46338281)
    • (2007) Clinical Chemistry , vol.53 , Issue.2 , pp. 349-352
    • Kennerson, M.M.1    Warburton, T.2    Nelis, E.3    Brewer, M.4    Polly, P.5    De Jonghe, P.6    Timmerman, V.7    Nicholson, G.A.8
  • 43
    • 0033987736 scopus 로고    scopus 로고
    • Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
    • DOI 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N
    • den Dunnen JT, Antonarakis SE: Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000; 15: 7-12. (Pubitemid 30036162)
    • (2000) Human Mutation , vol.15 , Issue.1 , pp. 7-12
    • Den Dunnen, J.T.1    Antonarakis, S.E.2
  • 45
    • 21144443363 scopus 로고    scopus 로고
    • NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome
    • Borck G, Redon R, Sanlaville D et al: NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome. J Med Genet 2004; 41: e128.
    • (2004) J Med Genet , vol.41
    • Borck, G.1    Redon, R.2    Sanlaville, D.3
  • 47
    • 37649006830 scopus 로고    scopus 로고
    • Descriptive epidemiology of Cornelia de Lange syndrome in Europe
    • Barisic I, Tokic V, Loane M et al: Descriptive epidemiology of Cornelia de Lange syndrome in Europe. Am J Med Genet A 2008; 146A: 51-59.
    • (2008) Am J Med Genet A , vol.146 A , pp. 51-59
    • Barisic, I.1    Tokic, V.2    Loane, M.3
  • 48
    • 70349878942 scopus 로고    scopus 로고
    • Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome
    • Castronovo P, Gervasini C, Cereda A et al: Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome. Chromosome Res 2009; 17: 763-771.
    • (2009) Chromosome Res , vol.17 , pp. 763-771
    • Castronovo, P.1    Gervasini, C.2    Cereda, A.3
  • 49
    • 58149158042 scopus 로고    scopus 로고
    • On the molecular etiology of Cornelia de Lange syndrome
    • Dorsett D, Krantz ID: On the molecular etiology of Cornelia de Lange syndrome. Ann NY Acad Sci 2009; 1151: 22-37.
    • (2009) Ann NY Acad Sci , vol.1151 , pp. 22-37
    • Dorsett, D.1    Krantz, I.D.2


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