Premature termination of SMARCB1 translation may be followed by reinitiation in schwannomatosis-associated schwannomas, but results in absence of SMARCB1 expression in rhabdoid tumors

Acta Neuropathologica

Volumn 128, Issue 3, 2014, Pages 439-448

  Hulsebos, Theo J M ^a   Kenter, Susan ^a   Verhagen, Wim I M ^b   Baas, Frank ^a   Flucke, Uta ^c   Wesseling, Pieter ^c,d  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b CANISIUS WILHELMINA HOSPITAL   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Nonsense mediated mRNA decay; Rhabdoid tumor; Schwannomatosis; Site directed mutagenesis; SMARCB1; Translation reinitiation

Indexed keywords

ANTIBODY; MESSENGER RNA; METHIONINE; PROTEIN; SMARCB1 PROTEIN; UNCLASSIFIED DRUG; VALINE; DNA BINDING PROTEIN; NONHISTONE PROTEIN; SMARCB1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADULT; ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; AMINO TERMINAL SEQUENCE; ARTICLE; CASE REPORT; CELL NUCLEUS; CODON; CONTROLLED STUDY; EXON; FEMALE; GERMLINE MUTATION; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MOSAICISM; MUTATION; NEURILEMOMA; NONSENSE MEDIATED MRNA DECAY; PREMATURE TERMINATION CODON; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN SYNTHESIS; RHABDOID TUMOR; STAINING; GENE EXPRESSION REGULATION; GENETIC TRANSFECTION; GENETICS; METABOLISM; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PATHOLOGY; SITE DIRECTED MUTAGENESIS; TUMOR CELL LINE;

CELL LINE, TUMOR; CHROMOSOMAL PROTEINS, NON-HISTONE; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; MALE; MIDDLE AGED; MUTAGENESIS, SITE-DIRECTED; MUTATION; NEURILEMMOMA; RHABDOID TUMOR; RNA, MESSENGER; TRANSCRIPTION FACTORS; TRANSFECTION;

EID: 84906303774     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-014-1281-3     Document Type: Article

References (30)

1. Biegel JA, Zhou JY, Rorke LB, Stenstrom C, Wainwright LM, Fogelgren B (1999) Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res 59:74-79 (Pubitemid 29062960)
2. Bourdeaut F, Fréneaux P, Thuille B, Lellouch-Tubiana A, Nicolas A, Couturier J, Pierron G, Sainte-Rose C, Bergeron C, Bouvier R, Rialland X, Laurence V, Michon J, Sastre-Garau X, Delattre O (2007) hSNF5/INI1-deficient tumours and rhabdoid tumours are convergent but not fully overlapping entities. J Pathol 211:323-330 (Pubitemid 46172708)
3. Bourdeaut F, Lequin D, Brugières L, Reynaud S, Dufour C, Doz F, André N, Stephan JL, Pérel Y, Oberlin O, Orbach D, Bergeron C, Rialland X, Fréneaux P, Ranchere D, Figarella-Branger D, Audry G, Puget S, Evans DG, Pinas JC, Capra V, Mosseri V, Coupier I, Gauthier-Villars M, Pierron G, Delattre O (2011) Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. Clin Cancer Res 17:31-38
4. Bruder CE, Dumanski JP, Kedra D (1999) The mouse ortholog of the human SMARCB1 gene encodes two splice forms. Biochem Biophys Res Commun 257:886-890 (Pubitemid 29301537)
5. Buisson M, Anczuków O, Zetoune AB, Ware MD, Mazoyer S (2006) The 185delAG mutation (c.68-69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon. Hum Mutat 27:1024-1029 (Pubitemid 44454055)
6. Eaton KW, Tooke LS, Wainwright LM, Judkins AR, Biegel JA (2011) Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Pediatr Blood Cancer 56:7-15
7. Eelloo JA, Evans DGR, Grgory JJ, Whitehouse RW, Soh C, Bowers N, Hulse P, Wylie JP, Clarke NW, Ealing J. A complex case of three primary malignancies associated with a SMARCB1 mutation, Abstract, Children's Tumor Foundation Conference, 8-11 June 2013, Monterey, CA, p 78
8. Hadfield KD, Newman WG, Bowers NL, Wallace A, Bolger C, Colley A, McCann E, Trump D, Prescott T, Evans DG (2008) Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. J Med Genet 45:332-339 (Pubitemid 351839473)
9. Hasselblatt M, Isken S, Linge A, Eikmeier K, Jeibmann A, Oyen F, Nagel I, Richter J, Bartelheim K, Kordes U, Schneppenheim R, Frühwald M, Siebert R, Paulus W (2013) Highresolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors. Genes Chromosom Cancer 52:185-190
10. Hoot AC, Russo P, Judkins AR, Perlman EJ, Biegel JA (2004) Immunohistochemical analysis of hSNF5/INI1 distinguishes renal and extra-renal malignant rhabdoid tumors from other pediatric soft tissue tumors. Am J Surg Pathol 28:1485-1491 (Pubitemid 39425515)
11. Hulsebos TJ, Plomp AS, Wolterman RA, Robanus-Maandag EC, Baas F, Wesseling P (2007) Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am J Hum Genet 80:805-810 (Pubitemid 46564417)
12. Hulsebos TJ, Kenter S, Siebers-Renelt U, Hans V, Wesseling P, Flucke U (2014) SMARCB1 involvement in the development of leiomyoma in a patient with schwannomatosis. Am J Surg Pathol 38:421-425
13. Kadoch C, Crabtree GR (2013) Reversible disruption of mSWI/SNF (BAF) complexes by the SS18-SSX oncogenic fusion in synovial sarcoma. Cell 28(153):71-85
14. Kordes U, Gesk S, Frühwald MC, Graf N, Leuschner I, Hasselblatt M, Jeibmann A, Oyen F, Peters O, Pietsch T, Siebert R, Schneppenheim R (2010) Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor. Genes Chromosom Cancer 49:176-181
15. Kozak M (2001) Constraints on reinitiation of translation in mammals. Nucleic Acids Res 29:5226-5232
16. Luukkonen BG, Tan W, Schwartz S (1995) Efficiency of reinitiation of translation on human immunodeficiency virus type 1 mRNAs is determined by the length of the upstream open reading frame and by intercistronic distance. J Virol 69:4086-4094
17. Nagy E, Maquat LE (1998) A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem Sci 23:198-199 (Pubitemid 28302613)
18. Patil S, Perry A, Maccollin M, Dong S, Betensky RA, Yeh TH, Gutmann DH, Stemmer-Rachamimov AO (2008) Immunohistochemical analysis supports a role for INI1/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas. Brain Pathol 18:517-519
19. Paulsen M, Lund C, Akram Z, Winther JR, Horn N, Møller LB (2006) Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites. Am J Hum Genet 79:214-229 (Pubitemid 44141821)
20. Pedersen AG, Nielsen H (1997) Neural network prediction of translation initiation sites in eukaryotes: perspectives for EST and genome analysis. ISMB 5:226-233
21. Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki P, Fu C, Crowley MR, Crossman DK, Armstrong L, Babovic-Vuksanovic D, Bergner A, Blakeley JO, Blumenthal AL, Daniels MS, Feit H, Gardner K, Hurst S, Kobelka C, Lee C, Nagy R, Rauen KA, Slopis JM, Suwannarat P, Westman JA, Zanko A, Korf BR, Messiaen LM (2014) Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Nat Genet 46:182-187
22. Plotkin SR, Blakeley JO, Evans DG, Hanemann CO, Hulsebos TJ, Hunter-Schaedle K, Kalpana GV, Korf B, Messiaen L, Papi L, Ratner N, Sherman LS, Smith MJ, Stemmer-Rachamimov AO, Vitte J, Giovannini M (2013) Update from the 2011 International Schwannomatosis Workshop: from genetics to diagnostic criteria. Am J Med Genet A 161:405-416
23. Rousseau G, Noguchi T, Bourdon V, Sobol H, Olschwang S (2011) SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis. BMC Neurol 11:9
24. Sévenet N, Lellouch-Tubiana A, Schofield D, Hoang-Xuan K, Gessler M, Birnbaum D, Jeanpierre C, Jouvet A, Delattre O (1999) Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations. Hum Mol Genet 8:2359-2368
25. Smith MJ, Walker JA, Shen Y, Stemmer-Rachamimov A, Gusella JF, Plotkin SR (2012) Expression of SMARCB1 (INI1) mutations in familial schwannomatosis. Hum Mol Genet 21:5239-5245
26. Smith MJ, Wallace AJ, Bowers NL, Rustad CF, Woods CG, Leschziner GD, Ferner RE, Evans DG (2012) Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis. Neurogenetics 13:141-145
27. Stump MR, Gong Q, Zhou Z (2013) LQT2 nonsense mutations generate trafficking defective NH2-terminally truncated channels by the reinitiation of translation. Am J Physiol Heart Circ Physiol 305:H1397-H1404
28. Versteege I, Sévenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R, Aurias A, Delattre O (1998) Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature 394:203-206 (Pubitemid 28325977)
29. Wilson BG, Roberts CW (2011) SWI/SNF nucleosome remodellers and cancer. Nat Rev Cancer 11:481-492
30. Zhang J, Maquat LE (1997) Evidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cells. EMBO J 16:826-833 (Pubitemid 27089529)