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Alternative splicing of the ovine CFTR gene

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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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Acknowledgements

This work was funded by Vaincre la Mucoviscidose and the Cystic Fibrosis Trust. F.C. Broackes-Carter was in receipt of a MRC studentship. We thank Dr. Scott Tebbutt for additional sheep sequence information.

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Authors and Affiliations

  1. Paediatric Molecular Genetics, Weatherall Institute of Molecular Medicine, Oxford University, John Radcliffe Hospital, Oxford, OX3 9DS, UK

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

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  1. Fiona C. Broackes-Carter
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  2. Sarah H. Williams
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  3. Pei Ling Wong
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  4. Nathalie Mouchel
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  5. Ann Harris
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Correspondence to Ann Harris.

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Broackes-Carter, F.C., Williams, S.H., Wong, P. et al. Alternative splicing of the ovine CFTR gene . Mamm Genome 14, 778–787 (2003). https://doi.org/10.1007/s00335-003-3013-1

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