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

Epigenetics

Volumn 9, Issue 7, 2014, Pages 973-979

  Parenti, Ilaria ^a   Rovina, Davide ^a   Masciadri, Maura ^b   Cereda, Anna ^c   Azzollini, Jacopo ^a   Picinelli, Chiara ^b   Limongelli, Giuseppe ^d   Finelli, Palma ^a,b   Selicorni, Angelo ^c   Russo, Silvia ^b   Gervasini, Cristina ^a   Larizza, Lidia ^a,b  

^a UNIVERSITY OF MILAN   (Italy)

^b ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^c UNIVERSITY OF MILANO BICOCCA   (Italy)

^d SECOND UNIVERSITY OF NAPLES   (Italy)

Author keywords

Cornelia de Lange syndrome; Differential allelic expression; Pyrosequencing; Sex related gene expression; SMC1A

Indexed keywords

COMPLEMENTARY DNA; GLYCERALDEHYDE 3 PHOSPHATE DEHYDROGENASE; CELL CYCLE PROTEIN; NONHISTONE PROTEIN; STRUCTURAL MAINTENANCE OF CHROMOSOME PROTEIN 1;

ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DE LANGE SYNDROME; DNA EXTRACTION; FEMALE; GENE; GENE DELETION; GENE EXPRESSION; HUMAN; IMMUNOBLOTTING; LYMPHOBLASTOID CELL LINE; MALE; MISSENSE MUTATION; PROTEIN EXPRESSION; PROTEIN ISOLATION; PYROSEQUENCING; REAL TIME POLYMERASE CHAIN REACTION; RNA EXTRACTION; SMC1A GENE; X CHROMOSOME INACTIVATION; CASE CONTROL STUDY; CLINICAL TRIAL; COHORT ANALYSIS; COMPARATIVE STUDY; GENETICS; HETEROZYGOTE; METABOLISM; MULTICENTER STUDY; MUTATION; SEX DIFFERENCE; X CHROMOSOME;

ALLELES; CASE-CONTROL STUDIES; CELL CYCLE PROTEINS; CHROMOSOMAL PROTEINS, NON-HISTONE; CHROMOSOMES, HUMAN, X; COHORT STUDIES; DE LANGE SYNDROME; FEMALE; HETEROZYGOTE; HUMANS; MALE; MUTATION; SEX FACTORS;

EID: 84903690759     PISSN: 15592294     EISSN: 15592308     Source Type: Journal    
DOI: 10.4161/epi.28903     Document Type: Article

References (37)

1. Opitz JM. The Brachmann-de Lange syndrome. Am J Med Genet 1985; 22:89-102; PMID:3901753; http://dx.doi.org/10.1002/ajmg.1320220110
2. Ireland M, Donnai D, Burn J. Brachmann-de Lange syndrome. Delineation of the clinical phenotype. Am J Med Genet 1993; 47:959-64; P MID: 8291539; http://dx.doi.org/10.1002/ajmg.1320470705
3. 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; PMID: 8291537; http://dx.doi.org/10.1002/ajmg.1320470703
4. 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; http://dx.doi.org/10.1002/ajmg.a.31757
5. 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
6. de Lange C. Sur un type nouveau de dégénération (typus Amstelodamensis). Arch Med Enfants 1933; 36:713-7193
7. 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: 829153 8; http://dx.doi.org/10.1002/ajmg.1320470704
8. 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; http://dx.doi.org/10.1111/j.1399-0004.2007.00832.x
9. 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; PMID: 15146185; http://dx.doi.org/10.1038/ng1363
10. 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; PMID: 15146186; http://dx.doi.org/10.1038/ng1364
11. 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; PMID:16604071; http://dx.doi.org/10.1038/ng1779
12. 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; PMID:17273969; http://dx.doi.org/10.1086/511888
13. 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 2012a; 90:1014-27; PMID:22633399; http://dx.doi.org/10.1016/j.ajhg.2012.04.019
14. 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 2012b; 489:313-7; PMID:22885700; http://dx.doi.org/10.1038/nature11316
15. Dorsett D, Ström L. The ancient and evolving roles of cohesin in gene expression and DNA repair. Curr Biol 2012; 22:R240-50; PMID:22497943; http://dx.doi.org/10.1016/j.cub.2012.02.046
16. Dorsett D. Cohesin: genomic insights into controlling gene transcription and development. Curr Opin Genet Dev 2011; 21:199-206; PMID:21324671; http://dx.doi.org/10.1016/j.gde.2011.01.018
17. Mehta GD, Kumar R, Srivastava S, Ghosh SK. Cohesin: functions beyond sister chromatid cohesion. FEBS Lett 2013; 587:2299-312; PMID:23831059; http://dx.doi.org/10.1016/j.febslet.2013.06.035
18. 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; PMID:17221863; http://dx.doi.org/10.1002/humu.9478
19. 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; PM ID:19701948; http://dx.doi.org/10.1002/humu.21095
20. 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; PMID:20635401; http://dx.doi.org/10.1002/ajmg.a.33486
21. 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; PMID:20358602; http://dx.doi.org/10.1002/ajmg.a.33348
22. 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; PM ID:20513141; http://dx.doi.org/10.1002/humu.21252
23. 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; PMID:22106055; http://dx.doi.org/10.1002/ajmg.a.34360
24. 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://dx.doi.org/10.1002/ajmg.a.36252
25. http://grenada.lumc.nl/LOVD2/CDLS/home.php?select_db=SMC1A
26. Carrel L, Willard HF. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 2005; 434:400-4; PMID:15772666; http://dx.doi.org/10.1038/nature03479
27. 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; P M I D: 15114 3 74; http://dx.doi.org/10.1038/sj.ejhg.5201212
28. 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; PMID:18208332; http://dx.doi.org/10.1371/journal.pgen.0040009
29. 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; http://dx.doi.org/10.1093/hmg/ddn369
30. 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; http://dx.doi.org/10.1371/journal.pbio.1000119
31. 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; PMID:19763162; http://dx.doi.org/10.1371/journal.pgen.1000650
32. 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; http://dx.doi.org/10.1016/j.ygeno.2011.06.009
33. 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 Re s 2012; 11: 6111-23; PMID:23106691
34. 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; PMID:24038889; http://dx.doi.org/10.1002/humu.22430
35. Kleefstra T, Schenck A, Kramer JM, van Bokhoven H. The genetics of cognitive epigenetics. [Epub ahead of print]. Neuropharmacology 2014; 80C:83-94; PMID:24434855; http://dx.doi.org/10.1016/j.neuropharm.2013.12.025
36. 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; PMID:11129333; http://dx.doi.org/10.1007/s004390000382
37. (-Δ Δ C(T)) Method. Methods 2001; 25:402-8; PMID:11846609; http://dx.doi.org/10.1006/meth.2001.1262