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Research Paper

Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls

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Pages 973-979 | Received 07 Feb 2014, Accepted 14 Apr 2014, Published online: 22 Apr 2014

References

  • Opitz JM. The Brachmann-de Lange syndrome. Am J Med Genet 1985; 22:89 - 102; PMID: 3901753
  • Ireland M, Donnai D, Burn J. Brachmann-de Lange syndrome. Delineation of the clinical phenotype. Am J Med Genet 1993; 47:959 - 64; PMID: 8291539
  • Jackson L, Kline AD, Barr MA, Koch S. de Lange syndrome: a clinical review of 310 individuals. Am J Med Genet 1993; 47:940 - 6; http://dx.doi.org/10.1002/ajmg.1320470703; PMID: 8291537
  • Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson LG, FitzPatrick DR, Levin AV, Selicorni A. Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A 2007; 143A:1287 - 96; PMID: 17508425
  • Brachmann E. Ein Fall von symmetrischer Monodaktylie durch Ulnadefekt, mit symmetrischer Flughaurbildung in den Ellenbogen sowie anderen Abnormalitäten. Jahrbuch für Kinderheilkunde und physische Erziehung 1916; 84:225 - 235
  • de Lange C. Sur un type nouveau de dégénération (typus Amstelodamensis). Arch Med Enfants 1933; 36:713 - 7193
  • Van Allen MI, Filippi G, Siegel-Bartelt J, Yong SL, McGillivray B, Zuker RM, Smith CR, Magee JF, Ritchie S, Toi A, et al. Clinical variability within Brachmann-de Lange syndrome: a proposed classification system. Am J Med Genet 1993; 47:947 - 58; PMID: 8291538
  • Selicorni A, Russo S, Gervasini C, Castronovo P, Milani D, Cavalleri F, Bentivegna A, Masciadri M, Domi A, Divizia MT, et al. Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. Clin Genet 2007; 72:98 - 108; PMID: 17661813
  • 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 - 41; http://dx.doi.org/10.1038/ng1363; PMID: 15146185
  • Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, et al. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 2004; 36:631 - 5; http://dx.doi.org/10.1038/ng1364; PMID: 15146186
  • Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 2006; 38:528 - 30; http://dx.doi.org/10.1038/ng1779; PMID: 16604071
  • Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pié J, Gil-Rodríguez C, Arnedo M, Loeys B, Kline AD, 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 - 94; http://dx.doi.org/10.1086/511888; PMID: 17273969
  • Deardorff MA, Wilde JJ, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, Mönnich M, Yan Y, Xu W, Gil-Rodríguez MC, et al. RAD21 mutations cause a human cohesinopathy. Am J Hum Genet 2012; a 90:1014 - 27; http://dx.doi.org/10.1016/j.ajhg.2012.04.019; PMID: 22633399
  • Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, et al. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature 2012; b 489:313 - 7; http://dx.doi.org/10.1038/nature11316; PMID: 22885700
  • Dorsett D, Ström L. The ancient and evolving roles of cohesin in gene expression and DNA repair. Curr Biol 2012; 22:R240 - 50; http://dx.doi.org/10.1016/j.cub.2012.02.046; PMID: 22497943
  • Dorsett D. Cohesin: genomic insights into controlling gene transcription and development. Curr Opin Genet Dev 2011; 21:199 - 206; http://dx.doi.org/10.1016/j.gde.2011.01.018; PMID: 21324671
  • Mehta GD, Kumar R, Srivastava S, Ghosh SK. Cohesin: functions beyond sister chromatid cohesion. FEBS Lett 2013; 587:2299 - 312; http://dx.doi.org/10.1016/j.febslet.2013.06.035; PMID: 23831059
  • 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 - 6; http://dx.doi.org/10.1002/humu.9478; PMID: 17221863
  • Liu J, Feldman R, Zhang Z, Deardorff MA, Haverfield EV, Kaur M, Li JR, Clark D, Kline AD, Waggoner DJ, et al. SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Hum Mutat 2009; 30:1535 - 42; http://dx.doi.org/10.1002/humu.21095; PMID: 19701948
  • Limongelli G, Russo S, Digilio MC, Masciadri M, Pacileo G, Fratta F, Martone F, Maddaloni V, D’Alessandro R, Calabro P, et al. Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A. Am J Med Genet A 2010; 152A:2127 - 9; http://dx.doi.org/10.1002/ajmg.a.33486; PMID: 20635401
  • Pié J, Gil-Rodríguez MC, Ciero M, López-Viñas E, Ribate MP, Arnedo M, Deardorff MA, Puisac B, Legarreta J, de Karam JC, 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 - 9; http://dx.doi.org/10.1002/ajmg.a.33348; PMID: 20358602
  • Mannini L, Menga S, Musio A. The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer. Hum Mutat 2010; 31:623 - 30; http://dx.doi.org/10.1002/humu.21252; PMID: 20513141
  • Hoppman-Chaney N, Jang JS, Jen J, Babovic-Vuksanovic D, Hodge JC. In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome. Am J Med Genet A 2012; 158A:193 - 8; http://dx.doi.org/10.1002/ajmg.a.34360; PMID: 22106055
  • Gervasini C, Russo S, Cereda A, Parenti I, Masciadri M, Azzollini J, Melis D, Aravena T, Doray B, Ferrarini A, et al. Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum. Am J Med Genet A 2013; 161A:2909 - 19; PMID: 24124034
  • http://grenada.lumc.nl/LOVD2/CDLS/home.php?select_db=SMC1A
  • Carrel L, Willard HF. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 2005; 434:400 - 4; http://dx.doi.org/10.1038/nature03479; PMID: 15772666
  • Craig IW, Mill J, Craig GM, Loat C, Schalkwyk LC. Application of microarrays to the analysis of the inactivation status of human X-linked genes expressed in lymphocytes. Eur J Hum Genet 2004; 12:639 - 46; http://dx.doi.org/10.1038/sj.ejhg.5201212; PMID: 15114374
  • Johnston CM, Lovell FL, Leongamornlert DA, Stranger BE, Dermitzakis ET, Ross MT. Large-scale population study of human cell lines indicates that dosage compensation is virtually complete. PLoS Genet 2008; 4:e9; http://dx.doi.org/10.1371/journal.pgen.0040009; PMID: 18208332
  • Revenkova E, Focarelli ML, Susani L, Paulis M, Bassi MT, Mannini L, Frattini A, Delia D, Krantz I, Vezzoni P, et al. Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. Hum Mol Genet 2009; 18:418 - 27; PMID: 18996922
  • Liu J, Zhang Z, Bando M, Itoh T, Deardorff MA, Clark D, Kaur M, Tandy S, Kondoh T, Rappaport E, et al. Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biol 2009; 7:e1000119; PMID: 19468298
  • Kawauchi S, Calof AL, Santos R, Lopez-Burks ME, Young CM, Hoang MP, Chua A, Lao T, Lechner MS, Daniel JA, et al. Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome. PLoS Genet 2009; 5:e1000650; http://dx.doi.org/10.1371/journal.pgen.1000650; PMID: 19763162
  • Castagné R, Zeller T, Rotival M, Szymczak S, Truong V, Schillert A, Trégouët DA, Münzel T, Ziegler A, Cambien F, et al. Influence of sex and genetic variability on expression of X-linked genes in human monocytes. Genomics 2011; 98:320 - 6; PMID: 21763416
  • Gimigliano A, Mannini L, Bianchi L, Puglia M, Deardorff MA, Menga S, Krantz ID, Musio A, Bini L. Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes. J Proteome Res 2012; 11:6111 - 23; PMID: 23106691
  • Mannini L, Cucco F, Quarantotti V, Krantz ID, Musio A. Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. Hum Mutat 2013; 34:1589 - 96; http://dx.doi.org/10.1002/humu.22430; PMID: 24038889
  • Kleefstra T, Schenck A, Kramer JM, van Bokhoven H. The genetics of cognitive epigenetics. [Epub ahead of print] Neuropharmacology 2014; 80C:83 - 94; http://dx.doi.org/10.1016/j.neuropharm.2013.12.025; PMID: 24434855
  • Sharp A, Robinson D, Jacobs P. Age- and tissue-specific variation of X chromosome inactivation ratios in normal women. Hum Genet 2000; 107:343 - 9; http://dx.doi.org/10.1007/s004390000382; PMID: 11129333
  • Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Δ Δ C(T)) Method. Methods 2001; 25:402; PMID: 11846609

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