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 [2]

American Journal of Human Genetics

Volumn 74, Issue 6, 2004, Pages 1322-1325

  Buratti, Emanuele ^a   Brindisi, Antonia ^a   Pagani, Franco ^a   Baralle, Francisco E ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEAR FACTOR; NUCLEAR FACTOR TDP 43; THYMIDINE; TRANSMEMBRANE CONDUCTANCE REGULATOR; UNCLASSIFIED DRUG;

ALLELE; CFTR GENE; CYSTIC FIBROSIS; EXON; GENE; GENE MUTATION; HUMAN; HUMAN CELL; INTRON; LETTER; MALE INFERTILITY; NUCLEOTIDE REPEAT; PATHOLOGY; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; RNA SPLICING;

EID: 2442676753     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/420978     Document Type: Letter

References (8)

1. Buratti E, Baralle FE (2001) Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9. J Biol Chem 276:36337-36343
2. Buratti E, Dork T, Zuccato E, Pagani F, Romano M, Baralle FE (2001) Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping. EMBO J 20: 1774-1784
3. Cuppens H, Lin W, Jaspers M, Costes B, Teng H, Vankeerberghen A, Jorissen M, Droogmans G, Reynaert I, Goossens M, Nilius B, Cassiman JJ (1998) 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 101:487-496
4. Delaney SJ, Rich DP, Thomson SA, Hargrave MR, Lovelock PK, Welsh MJ, Wainwright BJ (1993) Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels. Nat Genet 4:426-431
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7. Strong TV, Wilkinson DJ, Mansoura MK, Devor DC, Henze K, Yang Y, Wilson JM, et al (1993) Expression of an abundant alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a cAMP-activated chloride conductance. Hum Mol Genet 2:225-230
8. Wang HY, Wang IF, Bose J, Shen CK (2004) Structural diversity and functional implications of the eukaryotic TDP gene family. Genomics 83:130-139