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PMID: 15195661 Published · ppublish English Comment Letter Research Support, Non-U.S. Gov't

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.

American journal of human genetics ·Vol. 74 ·No. 6 ·2004-06-00 ·Pages 1322-5

Buratti E, Brindisi A, Pagani F, Baralle FE

Abstract

暂无摘要

MeSH Terms

Alternative Splicing Cystic Fibrosis/genetics Cystic Fibrosis Transmembrane Conductance Regulator/genetics DNA-Binding Proteins/genetics,metabolism Dinucleotide Repeats/genetics Exons/genetics Genetic Variation/genetics Genotype Humans Introns/genetics Mutation/genetics Penetrance Phenotype

Chemicals

CFTR protein, human DNA-Binding Proteins Cystic Fibrosis Transmembrane Conductance Regulator

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Buratti Emanuele

Brindisi Antonia

Pagani Franco

Baralle Francisco E

References (8)

8 references, click to expand

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 Jan 15;101(2):487-96 PMID: 9435322
Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping.
EMBO J. 2001 Apr 2;20(7):1774-84 PMID: 11285240
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. 2001 Sep 28;276(39):36337-43 PMID: 11470789
Pre-mRNA splicing and human disease.
Genes Dev. 2003 Feb 15;17(4):419-37 PMID: 12600935
Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels.
Nat Genet. 1993 Aug;4(4):426-31 PMID: 7691356
Structural diversity and functional implications of the eukaryotic TDP gene family.
Genomics. 2004 Jan;83(1):130-9 PMID: 14667816
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
Am J Hum Genet. 2004 Jan;74(1):176-9 PMID: 14685937
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. 1993 Mar;2(3):225-30 PMID: 7684641

Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

DOI

10.1086/420978

Published

2004-06-00

Pages

1322-5

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1182100

Subset

Grants

Telethon · GGP02453 · Italy

Corrections

CommentOn

PMID: 14685937

External Links

PubMed source DOI: 10.1086/420978 PMC Full Text View journal details

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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.

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