Unusual splice site mutations disrupt FANCA exon 8 definition

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1842, Issue 7, 2014, Pages 1052-1058

  Mattioli, Chiara ^a   Pianigiani, Giulia ^a   De Rocco, Daniela ^b   Bianco, Anna Monica Rosaria ^b   Cappelli, Enrico ^c   Savoia, Anna ^b,d   Pagani, Franco ^a  

^a INTERNATIONAL CENTRE FOR GENETIC ENGINEERING AND BIOTECHNOLOGY   (Italy)

^b INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^c G GASLINI INSTITUTE   (Italy)

^d UNIVERSITY OF TRIESTE   (Italy)

Author keywords

Fanconi anemia; Nonsense codon; Nonsense mediated mRNA decay; RNA splice sites; RNA splicing; U1 small nuclear ribonucleoprotein

Indexed keywords

CYTIDINE DERIVATIVE; FANCONI ANEMIA GROUP A PROTEIN; GENOMIC DNA; POLYPYRIMIDINE TRACT BINDING PROTEIN; SMALL NUCLEAR RNA; THYMIDINE DERIVATIVE;

ARTICLE; CONTROLLED STUDY; DONOR SITE; EXON; EXON SKIPPING; FANCONI ANEMIA; FEMALE; FRAMESHIFT MUTATION; GENE DISRUPTION; GENETIC VARIABILITY; HELA CELL; HUMAN; HUMAN CELL; LYMPHOBLASTOID CELL LINE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA SPLICING; SITE DIRECTED MUTAGENESIS;

FANCONI ANEMIA; NONSENSE CODON; NONSENSE MEDIATED MRNA DECAY; RNA SPLICE SITES; RNA SPLICING; U1 SMALL NUCLEAR RIBONUCLEOPROTEIN;

BASE SEQUENCE; CELL LINE, TUMOR; CODON, NONSENSE; EXONS; FANCONI ANEMIA COMPLEMENTATION GROUP A PROTEIN; HELA CELLS; HUMANS; INTRONS; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; RIBONUCLEOPROTEINS, SMALL NUCLEAR; RNA SPLICE SITES; RNA SPLICING;

EID: 84904785868     PISSN: 09254439     EISSN: 1879260X     Source Type: Journal    
DOI: 10.1016/j.bbadis.2014.03.014     Document Type: Article

References (35)

1. Joenje H., Patel K.J. The emerging genetic and molecular basis of Fanconi anaemia. Nat. Rev. Genet. 2001, 2:446-457.
2. Chen M., Manley J.L. Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches. Nat. Rev. Mol. Cell Biol. 2009, 10:741-754.
3. Caceres J.F., Kornblihtt A.R. Alternative splicing: multiple control mechanisms and involvement in human disease. Trends Genet. 2002, 18:186-193.
4. Wahl M.C., Will C.L., Luhrmann R. The spliceosome: design principles of a dynamic RNP machine. Cell 2009, 136:701-718.
5. Shcherbakova I., Hoskins A.A., Friedman L.J., Serebrov V., Correa I.R., Xu M.Q., Gelles J., Moore M.J. Alternative spliceosome assembly pathways revealed by single-molecule fluorescence microscopy. Cell Rep. 2013, 5:151-165.
6. Fernandez Alanis E., Pinotti M., Dal Mas A., Balestra D., Cavallari N., Rogalska M.E., Bernardi F., Pagani F. An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects. Hum. Mol. Genet. 2012, 21:2389-2398.
7. Baralle M., Baralle D., De Conti L., Mattocks C., Whittaker J., Knezevich A., Ffrench-Constant C., Baralle F.E. Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay. J. Med. Genet. 2003, 40:220-222.
8. Pinotti M., Balestra D., Rizzotto L., Maestri I., Pagani F., Bernardi F. Rescue of coagulation factor VII function by the U1+5A snRNA. Blood 2009, 113:6461-6464.
9. Susani L., Pangrazio A., Sobacchi C., Taranta A., Mortier G., Savarirayan R., Villa A., Orchard P., Vezzoni P., Albertini A., Frattini A., Pagani F. TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. Hum. Mutat. 2004, 24:225-235.
10. Tanner G., Glaus E., Barthelmes D., Ader M., Fleischhauer J., Pagani F., Berger W., Neidhardt J. Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA. Hum. Mutat. 2009, 30:255-263.
11. Huie M.L., Chen A.S., Tsujino S., Shanske S., DiMauro S., Engel A.G., Hirschhorn R. Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T->G) mutation in a majority of patients and a novel IVS10 (+1GT->CT) mutation. Hum. Mol. Genet. 1994, 3:2231-2236.
12. David A., Miraki-Moud F., Shaw N.J., Savage M.O., Clark A.J., Metherell L.A. Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity. Eur. J. Endocrinol. 2010, 162:37-42.
13. Lefevre S.H., Chauveinc L., Stoppa-Lyonnet D., Michon J., Lumbroso L., Berthet P., Frappaz D., Dutrillaux B., Chevillard S., Malfoy B. A T to C mutation in the polypyrimidine tract of the exon 9 splicing site of the RB1 gene responsible for low penetrance hereditary retinoblastoma. J. Med. Genet. 2002, 39:E21.
14. Sebillon P., Beldjord C., Kaplan J.C., Brody E., Marie J. A T to G mutation in the polypyrimidine tract of the second intron of the human beta-globin gene reduces in vitro splicing efficiency: evidence for an increased hnRNP C interaction. Nucleic Acids Res. 1995, 23:3419-3425.
15. Pagani F., Buratti E., Stuani C., Romano M., Zuccato E., Niksic M., Giglio L., Faraguna D., Baralle F.E. Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element. J. Biol. Chem. 2000, 275:21041-21047.
16. Dardis A., Zanin I., Zampieri S., Stuani C., Pianta A., Romanello M., Baralle F.E., Bembi B., Buratti E. Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents. Nucleic Acids Res. 2014, 42:1291-1302.
17. Baralle D., Baralle M. Splicing in action: assessing disease causing sequence changes. J. Med. Genet. 2005, 42:737-748.
18. Pagani F., Stuani C., Tzetis M., Kanavakis E., Efthymiadou A., Doudounakis S., Casals T., Baralle F.E. New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12. Hum. Mol. Genet. 2003, 12:1111-1120.
19. Pastor T., Talotti G., Lewandowska M.A., Pagani F. An Alu-derived intronic splicing enhancer facilitates intronic processing and modulates aberrant splicing in ATM. Nucleic Acids Res. 2009, 37:7258-7267.
20. Pagani F., Buratti E., Stuani C., Bendix R., Dork T., Baralle F.E. A new type of mutation causes a splicing defect in ATM. Nat. Genet. 2002, 30:426-429.
21. Lejeune F., Maquat L.E. Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells. Curr. Opin. Cell Biol. 2005, 17:309-315.
22. Isken O., Maquat L.E. Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function. Genes Dev. 2007, 21:1833-1856.
23. De Rocco D., Bottega R., Cappelli E., Cavani S., Criscuolo M., Nicchia E., Corsolini F., Greco C., Borriello A., Svahn J., Pillon M., Mecucci C., Casazza G., Verzegnassi F., Cugno C., Locasciulli A., Farruggia P., Longoni D., Ramenghi U., Barberi W., Tucci F., Perrotta S., Grammatico P., Hanenberg H., Della Ragione F., Dufour C., Savoia A. Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. Haematologica 2014, (in press).
24. Goina E., Skoko N., Pagani F. Binding of DAZAP1 and hnRNPA1/A2 to an exonic splicing silencer in a natural BRCA1 exon 18 mutant. Mol. Cell. Biol. 2008, 28:3850-3860.
25. Roscigno R.F., Weiner M., Garcia-Blanco M.A. A mutational analysis of the polypyrimidine tract of introns. Effects of sequence differences in pyrimidine tracts on splicing,. J. Biol. Chem. 1993, 268:11222-11229.
26. Coolidge C.J., Seely R.J., Patton J.G. Functional analysis of the polypyrimidine tract in pre-mRNA splicing. Nucleic Acids Res. 1997, 25:888-896.
27. Reed R. The organization of 3' splice-site sequences in mammalian introns. Genes Dev. 1989, 3:2113-2123.
28. Krainer A.R., Maniatis T., Ruskin B., Green M.R. Normal and mutant human beta-globin pre-mRNAs are faithfully and efficiently spliced in vitro. Cell 1984, 36:993-1005.
29. Pagani F., Buratti E., Stuani C., Baralle F.E. Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9. J. Biol. Chem. 2003, 278:26580-26588.
30. Allamand V., Bidou L., Arakawa M., Floquet C., Shiozuka M., Paturneau-Jouas M., Gartioux C., Butler-Browne G.S., Mouly V., Rousset J.P., Matsuda R., Ikeda D., Guicheney P. Drug-induced readthrough of premature stop codons leads to the stabilization of laminin alpha2 chain mRNA in CMD myotubes. J. Gene Med. 2008, 10:217-224.
31. Malik V., Rodino-Klapac L.R., Viollet L., Mendell J.R. Aminoglycoside-induced mutation suppression (stop codon readthrough) as a therapeutic strategy for Duchenne muscular dystrophy. Ther. Adv. Neurol. Disord. 2010, 3:379-389.
32. Floquet C., Rousset J.P., Bidou L. Readthrough of premature termination codons in the adenomatous polyposis coli gene restores its biological activity in human cancer cells. PLoS One 2011, 6:e24125.
33. Fukumura K., Taniguchi I., Sakamoto H., Ohno M., Inoue K. U1-independent pre-mRNA splicing contributes to the regulation of alternative splicing. Nucleic Acids Res. 2009, 37:1907-1914.
34. Raponi M., Buratti E., Dassie E., Upadhyaya M., Baralle D. Low U1 snRNP dependence at the NF1 exon 29 donor splice site. FEBS J. 2009, 276:2060-2073.
35. Ke S., Shang S., Kalachikov S.M., Morozova I., Yu L., Russo J.J., Ju J., Chasin L.A. Quantitative evaluation of all hexamers as exonic splicing elements. Genome Res. 2011, 21:1360-1374.