Literature DB >> 14722727

Alternative splicing of the ovine CFTR gene.

Fiona C Broackes-Carter1, Sarah H Williams, Pei Ling Wong, Nathalie Mouchel, Ann Harris.   

Abstract

Alternative splicing of the human CFTR gene was studied previously and shown not to generate functional CFTR-like chloride ion channels. However, it is possible that some of the alternatively spliced forms may encode CFTR proteins with different functions. The ovine CFTR gene is very similar to the human gene and has regulatory mechanisms in common. To evaluate whether the alternatively spliced forms of human CFTR are conserved in the sheep, the splice forms of the ovine CFTR gene were examined. A transcript lacking exon 9 was observed in the sheep, but unlike the human exon 9-transcript, it did not result from a polymorphic intron 8 splice acceptor site. Sheep CFTR transcripts lacking exon 17b were seen and have also been described in the human. Transcripts lacking 98 bp of the 5' end of exon 13, the whole of exon 13, and both exons 14b and 15 respectively were seen in sheep but have not been reported in human. Splice site donor and acceptor sequences were isolated, and alternative transcripts were shown to result from a combination of aberrant sites and competition of 5' splice donor sequences.

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Year:  2003        PMID: 14722727     DOI: 10.1007/s00335-003-3013-1

Source DB:  PubMed          Journal:  Mamm Genome        ISSN: 0938-8990            Impact factor:   2.957


  30 in total

Review 1.  Alternative pre-mRNA splicing and proteome expansion in metazoans.

Authors:  Tom Maniatis; Bosiljka Tasic
Journal:  Nature       Date:  2002-07-11       Impact factor: 49.962

2.  Temporal regulation of CFTR expression during ovine lung development: implications for CF gene therapy.

Authors:  Fiona C Broackes-Carter; Nathalie Mouchel; Deborah Gill; Stephen Hyde; John Bassett; Ann Harris
Journal:  Hum Mol Genet       Date:  2002-01-15       Impact factor: 6.150

3.  A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones.

Authors:  J Riley; R Butler; D Ogilvie; R Finniear; D Jenner; S Powell; R Anand; J C Smith; A F Markham
Journal:  Nucleic Acids Res       Date:  1990-05-25       Impact factor: 16.971

4.  CFTR mRNA and its truncated splice variant (TRN-CFTR) are differentially expressed during collecting duct ontogeny.

Authors:  S Huber; G Braun; A Burger-Kentischer; B Reinhart; B Luckow; M Horster
Journal:  FEBS Lett       Date:  1998-02-27       Impact factor: 4.124

5.  Construction of a large-insert yeast artificial chromosome library from sheep DNA.

Authors:  M F Broom; D F Hill
Journal:  Mamm Genome       Date:  1994-12       Impact factor: 2.957

6.  Both the wild type and a functional isoform of CFTR are expressed in kidney.

Authors:  M M Morales; T P Carroll; T Morita; E M Schwiebert; O Devuyst; P D Wilson; A G Lopes; B A Stanton; H C Dietz; G R Cutting; W B Guggino
Journal:  Am J Physiol       Date:  1996-06

7.  Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G-->T and 711 + 1G-->T mutations.

Authors:  J Zielenski; D Bozon; D Markiewicz; G Aubin; F Simard; J M Rommens; L C Tsui
Journal:  Hum Mol Genet       Date:  1993-06       Impact factor: 6.150

8.  Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene.

Authors:  Isabel Aznarez; Elayne M Chan; Julian Zielenski; Benjamin J Blencowe; Lap-Chee Tsui
Journal:  Hum Mol Genet       Date:  2003-08-15       Impact factor: 6.150

9.  A comparative genomic analysis of the cow, pig, and human CFTR genes identifies potential intronic regulatory elements.

Authors:  Sarah H Williams; Nathalie Mouchel; Ann Harris
Journal:  Genomics       Date:  2003-06       Impact factor: 5.736

10.  Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.

Authors:  Timothy W Hefferon; Fiona C Broackes-Carter; Ann Harris; Garry R Cutting
Journal:  Am J Hum Genet       Date:  2002-06-13       Impact factor: 11.025

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