Fine characterization of the recurrent c.1584+118672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator gene

American Journal of Respiratory Cell and Molecular Biology

Volumn 48, Issue 5, 2013, Pages 619-625

  Costantino, Lucy ^a   Rusconi, Damiana ^a   Soldà, Giulia ^b   Seia, Manuela ^a   Paracchin, Valentina ^a   Porcaro, Luigi ^a   Asselta, Rosanna ^b   Colombo, Carla ^a   Duga, Stefano ^b  

^a NATIONAL CANCER INSTITUTE   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

Author keywords

Cystic fibrosis; Deep intronic mutation; In vitro analysis; Nasal brushing; Pseudoexon

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENOMIC DNA; MESSENGER RNA PRECURSOR; CFTR PROTEIN, HUMAN; MESSENGER RNA;

ADULT; ALLELE; ALTERNATIVE RNA SPLICING; ARTICLE; BASE PAIRING; BINDING SITE; CHILD; CONTROLLED STUDY; CYSTIC FIBROSIS; EXON; EXPRESSION VECTOR; FEMALE; GENE MUTATION; GENETIC SCREENING; GENETIC TRANSFECTION; GENOMICS; GENOTYPE; HAPLOTYPE; HELA CELL; HUMAN; IN VIVO STUDY; INFANT; INTRON; ITALY; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA DEGRADATION; RNA PROCESSING; RNA STABILITY; WILD TYPE; GENE DELETION; GENETICS; ISOLATION AND PURIFICATION; METABOLISM; MOLECULAR GENETICS; MUTATION; NOSE; NUCLEOTIDE SEQUENCE; RNA SPLICING;

ADULT; ALTERNATIVE SPLICING; BASE SEQUENCE; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; FEMALE; HAPLOTYPES; HELA CELLS; HUMANS; INFANT; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NOSE; RNA SPLICE SITES; RNA, MESSENGER; SEQUENCE DELETION;

MLCS; MLOWN;

EID: 84879290735     PISSN: 10441549     EISSN: 15354989     Source Type: Journal    
DOI: 10.1165/rcmb.2012-0371OC     Document Type: Article

References (24)

1. Knowles MR, Durie PR. What is cystic fibrosis? N Engl J Med 2002;347: 439-442.
2. Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC. Identification of the cystic fibrosis gene: genetic analysis. Science 1989;245: 1073-1080.
3. Cohn JA, Friedman KJ, Noone PG, Knowles MR, Silverman LM, Jowel PS. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N Engl J Med 1998;339: 653-658.
4. Chillon M, Casals T, Mercier B, Brassas L, Lissens W, Silber S, Romey MC, Ruiz-Romero J, Verlingue C, Claustres M. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995;332: 1475-1480.
5. Nissim-Rafinia M, Kerem B. Splicing regulation as a potential genetic modifier. Trends Genet 2002;18: 123-127.
6. Chiba-Falek O, Parad RB, Kerem E, Kerem B. Variable levels of normal RNA in different organs carrying the CFTR splicing mutation 3849110kb C→T. Am J Respir Crit Care Med 1999;159: 1998-2002.
7. Rave-Harel N, Kerem E, Nissim-Rafinia M, Madjar I, Goshen R, Augarten A, Rahat A, Hurwitz A, Darvasi A, Kerem B. The molecular basis of partial penetrance of splicing mutations in cystic fibrosis. Am J Hum Genet 1997;60: 87-94.
8. Pagani F, Stuani C, Tzetis M, Kanavakis E, Efthymiadou A, Doudounakis S, Casals T, Baralle FE. 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.
9. Larriba S, Bassas L, Gimenez J, Ramos MD, Segura A, Nunes V, Estivill X, Casals T. Testicular CFTR splice variants in patients with congenital absence of the vas deferens. Hum Mol Genet 1998;7: 1739-1743.
10. Pagani F, Buratti E, Stuani C, Romano M, Zuccato E, Niksic M, Giglio L, Faraguna D, Baralle FE. Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element. J Biol Chem 2000;275: 21041-21047.
11. Ayala YM, Pagani F, Baralle FE. TDP43 depletion rescues aberrant CFTR exon 9 skipping. FEBS Lett 2006;580: 1339-1344.
12. Buratti E, Brindisi A, Pagani F, Baralle FE. Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: a functional link with disease penetrance. Am J Hum Genet 2004;74: 1322-1325.
13. Zuccato E, Buratti E, Stuani C, Baralle FE, Pagani F. An intronic polypirimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing. J Biol Chem 2004;279: 16980-16988.
14. Chu CS, Trapnell BC, Curristin S, Cutting GR, Crystal RG. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet 1993;3: 151-156.
15. Cuppens H, Lin W, Jaspers M, Costes B, Teng H, Vankeerberghen A, Jorissen M, Droogmans G, Reynaert I, Goossens M, et al. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes: the polymorphic (Tg)M locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J Clin Invest 1998;101: 487-496.
16. Ramalho AS, Beck S, Meyer M, Penque D, Cutting GR, Amaral MD. Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis. Am J Respir Cell Mol Biol 2002;27: 619-627.
17. Amaral MD, Pacheco P, Beck S, Farinha CM, Penque D, Nogueira P, Barreto C, Lopes B, Casals T, Dapena J, et al. Cystic fibrosis patients with the 3272-26A.G splicing mutation have milder disease than F508del homozygotes: a large European study. J Med Genet 2001;38: 777-783.
18. Goina E, Fernandez-Alanis E, Pagani F. Approaches to study CFTR pre-mRNA splicing defects. Methods Mol Biol 2011;741: 155-169.
19. Costantino L, Claut L, Paracchini V, Coviello DA, Colombo C, Porcaro L, Capasso P, Zanardelli M, Pizzamiglio G, Degiorgio D, et al. A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudo-exon in CF patients. J Cyst Fibros 2010;9: 411-418.
20. Baralle M, Baralle D, De Conti L, Mattocks C, Whittaker J, Knezevich A, Efrench-Constant C, Baralle FE. Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay. J Med Genet 2003;40: 220-222.
21. Spena S, Duga S, Asselta R, Malcovati M, Peyvandi F, Tenchini ML. Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites. Blood 2002;15: 4478-4484.
22. Maquat LE, Carmichael GG. Quality control of mRNA function. Cell 2001;104: 173-176.
23. Faà V, Incani F, Meloni A, Corda D, Masala M, Baffico AM, Seia M, Cao A, Rosatelli MC. Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. J Biol Chem 2009;284: 30024-30031.
24. Highsmith WE, Burch LH, Zhou Z, Olsen JC, Boat TE, Spock A, Gorvoy JD, Quittel L, Friedman KJ, Silverman LM, et al. Identification of a splice site mutation (278915G.A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis. Hum Mutat 1997;9: 332-338.