Gene Mutation in MicroRNA Target Sites of CFTR Gene: A Novel Pathogenetic Mechanism in Cystic Fibrosis?

PLoS ONE

Volumn 8, Issue 3, 2013, Pages

  Amato, Felice ^a,b   Seia, Manuela ^c   Giordano, Sonia ^a,b   Elce, Ausilia ^a,b   Zarrilli, Federica ^a,b,d   Castaldo, Giuseppe ^a,b   Tomaiuolo, Rossella ^a,b  

^a CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^d UNIVERSITY OF MOLISE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; MICRORNA; MICRORNA 433; MICRORNA 509 3P; RNA; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; ADULT; ARTICLE; BINDING AFFINITY; BRONCHIECTASIS; CONTROLLED STUDY; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE REGULATOR GENE; DIAGNOSTIC TEST; DOWN REGULATION; EMBRYO; GENE CONTROL; GENE DELETION; GENE EXPRESSION; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENE TARGETING; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HOMOZYGOTE; HUMAN; HUMAN CELL; IN VITRO STUDY; MAJOR CLINICAL STUDY; MALE GENITAL SYSTEM DISEASE; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; PHENOTYPE; PREDICTION; PROTEIN EXPRESSION; RNA BINDING; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SWEAT CHLORIDE TEST;

3' UNTRANSLATED REGIONS; ADULT; BASE SEQUENCE; CELL LINE; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENE EXPRESSION; GENOTYPE; HUMANS; MICRORNAS; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84875428152     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0060448     Document Type: Article

References (13)

1. McIntosh I, Cutting GR, (1992) Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis. FASEB J 6: 2775-2782.
2. Castellani C, Cuppens H, Macek M Jr, Cassiman JJ, Kerem E, et al. (2008) Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 7: 179-196.
3. Castaldo G, Polizzi A, Tomaiuolo R, Cazeneuve C, Girodon E, et al. (2005) Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian population. Ann Hum Genet 69: 15-24.
4. Tomaiuolo R, Sangiuolo F, Bombieri C, Bonizzato A, Cardillo G, et al. (2008) Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: a multicentric Italian study. J Cyst Fibros 7: 347-351.
5. Amato F, Bellia C, Cardillo G, Castaldo G, Ciaccio M, et al. (2011) Extensive molecular analysis of patients bearing CFTR-related disorders. J Mol Diagn 14: 81-89.
6. Castaldo G, Lembo F, Tomaiuolo R, (2010) Molecular diagnostics: between chips and customized medicine. Clin Chem Lab Med 48: 973-982.
7. Singh SK, Pal Bhadra M, Girschick HJ, Bhadra U, (2008) MicroRNAs--micro in size but macro in function. FEBS J 275: 4929-4944.
8. Gillen AE, Gosalia N, Leir SH, Harris A, (2011) MicroRNA regulation of expression of the cystic fibrosis transmembrane conductance regulator gene. Biochem J 438: 25-32.
9. Salvatore F, Scudiero O, Castaldo G, (2002) Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes. Am J Med Genet 111: 88-95.
10. Kertesz M, Iovino N, Unnerstall U, Gaul U, Segal E, (2007) The role of site accessibility in microRNA target recognition. Nat Genet 39: 1278-1284.
11. Megiorni F, Cialfi S, Dominici C, Quattrucci S, Pizzuti A, (2011) Synergistic post-transcriptional regulation of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) by miR-101 and miR-494 specific binding. PLoS One 6: e26601.
12. Wirsing A, Senkel S, Klein-Hitpass L, Ryffel GU, (2011) A systematic analysis of the 3′UTR of HNF4A mRNA reveals an interplay of regulatory elements including miRNA target sites. PLoS One 6: e27438.
13. Chin LJ, Ratner E, Leng S, Zhai R, Nallur S, et al. (2008) A SNP in a let-7 microRNA complementary site in the KRAS 3′ untranslated region increases non-small cell lung cancer risk. Cancer Res 68: 8535-8540.