SMC1A codon 496 mutations affect the cellular response to genotoxic treatments

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 1, 2012, Pages 224-228

  Mannini, Linda ^a   Menga, Stefania ^a   Tonelli, Alessandra ^b   Zanotti, Silvia ^c   Bassi, Maria Teresa ^b   Magnani, Cinzia ^d   Musio, Antonio ^a  

^a CNR   (Italy)

^b SCIENTIFIC INSTITUTE   (Italy)

^c AUSL Parma   (Italy)

^d UNIVERSITY HOSPITAL OF PARMA   (Italy)

Author keywords

Cellular response to genotoxic treatments; Cornelia de Lange syndrome; Recurring mutation; SMC1A codon 496

Indexed keywords

ANTICONVULSIVE AGENT; ARGININE; GENOMIC DNA; HISTIDINE; MITOMYCIN C;

AMINO ACID SUBSTITUTION; ARTICLE; BRACHYCEPHALY; CASE REPORT; CELLULAR STRESS RESPONSE; CHILD; CODON; COGNITIVE DEFECT; CONTROLLED STUDY; DE LANGE SYNDROME; DEVELOPMENTAL DISORDER; EARLY CHILDHOOD INTERVENTION; FACE DYSMORPHIA; FANCONI ANEMIA; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; GENOTOXICITY; HEART ATRIUM SEPTUM DEFECT; HETEROZYGOTE; HUMAN; HUMAN CELL; IONIZING RADIATION; LYMPHOCYTE; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MOTOR RETARDATION; MUSCLE HYPERTONIA; MUTATIONAL ANALYSIS; PERIPHERAL BLOOD MONONUCLEAR CELL; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; RESPIRATORY DISTRESS SYNDROME; SEIZURE; SMALL IN-FRAME DELETION; SMC1A GENE;

CELL CYCLE PROTEINS; CELL LINE; CHILD, PRESCHOOL; CHROMOSOMAL PROTEINS, NON-HISTONE; CODON; DE LANGE SYNDROME; DNA DAMAGE; FEMALE; HETEROZYGOTE; HUMANS; MUTATION;

EID: 84355166398     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34384     Document Type: Article

References (30)

1. Barber TD, McManus K, Yuen KW, Reis M, Parmigiani G, Shen D, Barrett I, Nouhi Y, Spencer F, Markowitz S, Velculescu VE, Kinzler KW, Vogelstein B, Lengauer C, Hieter P. 2008. Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers. Proc Natl Acad Sci USA 105: 3443-3448.
2. Borck G, Zarhrate M, Bonnefont JP, Munnich A, Cormier-Daire V, Colleaux L. 2007. Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. Hum Mutat 28: 205-206.
3. Castronovo P, Gervasini C, Cereda A, Masciadri M, Milani D, Russo S, Selicorni A, Larizza L. 2009. Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome. Chromosome Res 17: 763-771.
4. Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodriguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. 2007. 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 80: 485-494.
5. Dorsett D. 2011. Cohesin: Genomic insights into controlling gene transcription and development. Curr Opin Genet Dev 21: 199-206.
6. Egemen A, Ulger Z, Ozkinay F, Gulen F, Cogulu O. 2005. A de novo t (X;8)(p11.2;q24.3) demonstrating Cornelia de Lange syndrome phenotype. Genet Couns 16: 27-30.
7. Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li HH, Devoto M, Jackson LG, Krantz ID. 2004. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet 75: 610-623.
8. Kagey MH, Newman JJ, Bilodeau S, Zhan Y, Orlando DA, van Berkum NL, Ebmeier CC, Goossens J, Rahl PB, Levine SS, Taatjes DJ, Dekker J, Young RA. 2010. Mediator and cohesin connect gene expression and chromatin architecture. Nature 467: 430-435.
9. Kaur M, DeScipio C, McCallum J, Yaeger D, Devoto M, Jackson LG, Spinner NB, Krantz ID. 2005. Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. Am J Med Genet Part A 138A: 27-31.
10. Kawauchi S, Calof AL, Santos R, Lopez-Burks ME, Young CM, Hoang MP, Chua A, Lao T, Lechner MS, Daniel JA, Nussenzweig A, Kitzes L, Yokomori K, Hallgrimsson B, Lander AD. 2009. Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome. PLoS Genet 5: e1000650.
11. Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG. 2004. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 36: 631-635.
12. Limongelli G, Russo S, Digilio MC, Masciadri M, Pacileo G, Fratta F, Martone F, Maddaloni V, D'Alessandro R, Calabro P, Russo MG, Calabro R, Larizza L. 2010. Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A. Am J Med Genet Part A 152A: 2127-2129.
13. Liu J, Zhang Z, Bando M, Itoh T, Deardorff MA, Clark D, Kaur M, Tandy S, Kondoh T, Rappaport E, Spinner NB, Vega H, Jackson LG, Shirahige K, Krantz ID. 2009. Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biol 7: e1000119.
14. Mannini L, Liu J, Krantz ID, Musio A. 2010a. Spectrum and consequences of SMC1A mutations: The unexpected involvement of a core component of cohesin in human disease. Hum Mutat 31: 5-10.
15. Mannini L, Menga S, Musio A. 2010b. The expanding universe of cohesin functions: A new genome stability caretaker involved in human disease and cancer. Hum Mutat 31: 623-630.
16. Mannini L, Musio A. 2011. The dark side of cohesin: The carcinogenic point of view. Mutat Res 728: 81-87.
17. Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L. 2006. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 38: 528-530.
18. Nativio R, Wendt KS, Ito Y, Huddleston JE, Uribe-Lewis S, Woodfine K, Krueger C, Reik W, Peters JM, Murrell A. 2009. Cohesin is required for higher-order chromatin conformation at the imprinted IGF2-H19 locus. PLoS Genet 5: e1000739.
19. Parelho V, Hadjur S, Spivakov M, Leleu M, Sauer S, Gregson HC, Jarmuz A, Canzonetta C, Webster Z, Nesterova T, Cobb BS, Yokomori K, Dillon N, Aragon L, Fisher AG, Merkenschlager M. 2008. Cohesins functionally associate with CTCF on mammalian chromosome arms. Cell 132: 422-433.
20. Pié J, Gil-Rodríguez MC, Ciero M, López-Viñas E, Ribate MP, Arnedo M, Deardorff MA, Puisac B, Legarreta J, de Karam JC, Rubio E, Bueno I, Baldellou A, Calvo MT, Casals N, Olivares JL, Losada A, Hegardt FG, Krantz ID, Gómez-Puertas P, Ramos FJ. 2010. 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 Part A 152A: 924-929.
21. Ratajska M, Wierzba J, Pehlivan D, Xia Z, Brundage EK, Cheung SW, Stankiewicz P, Lupski JR, Limon J. 2010. Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL. Eur J Med Genet 53: 378-382.
22. Revenkova E, Focarelli ML, Susani L, Paulis M, Bassi MT, Mannini L, Frattini A, Delia D, Krantz I, Vezzoni P, Jessberger R, Musio A. 2009. Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. Hum Mol Genet 18: 418-427.
23. Rohatgi S, Clark D, Kline AD, Jackson LG, Pie J, Siu V, Ramos FJ, Krantz ID, Deardorff MA. 2010. Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey. Am J Med Genet Part A 152A: 1641-1653.
24. Rubio ED, Reiss DJ, Welcsh PL, Disteche CM, Filippova GN, Baliga NS, Aebersold R, Ranish JA, Krumm A. 2008. CTCF physically links cohesin to chromatin. Proc Natl Acad Sci USA 105: 8309-8314.
25. Stedman W, Kang H, Lin S, Kissil JL, Bartolomei MS, Lieberman PM. 2008. Cohesins localize with CTCF at the KSHV latency control region and at cellular c-myc and H19/Igf2 insulators. Embo J 27: 654-666.
26. Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T. 2004. 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 36: 636-641.
27. Uzgiris I, Hunt J. 1975. Assessment in infancy: Ordinal Scales of Psychological Development. Urbana: University of Illinois Press.
28. Vrouwe MG, Elghalbzouri-Maghrani E, Meijers M, Schouten P, Godthelp BC, Bhuiyan ZA, Redeker EJ, Mannens MM, Mullenders LH, Pastink A, Darroudi F. 2007. Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: Evidence for impaired recombinational repair. Hum Mol Genet 16: 1478-1487.
29. Wendt KS, Yoshida K, Itoh T, Bando M, Koch B, Schirghuber E, Tsutsumi S, Nagae G, Ishihara K, Mishiro T, Yahata K, Imamoto F, Aburatani H, Nakao M, Imamoto N, Maeshima K, Shirahige K, Peters JM. 2008. Cohesin mediates transcriptional insulation by CCCTC-binding factor. Nature 451: 796-801.
30. Yan J, Zhang F, Brundage E, Scheuerle A, Lanpher B, Erickson RP, Powis Z, Robinson HB, Trapane PL, Stachiw-Hietpas D, Keppler-Noreuil KM, Lalani SR, Sahoo T, Chinault AC, Patel A, Cheung SW, Lupski JR. 2009. Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange. J Med Genet 46: 626-634.