Cryptic splice sites and split genes
Cryptic splice sites and split genes
We describe a new program called cryptic splice finder (CSF) that can reliably identify cryptic splice sites (css), so providing a useful tool to help investigate splicing mutations in genetic disease. We report that many css are not entirely dormant and are often already active at low levels in normal genes prior to their enhancement in genetic disease. We also report a fascinating correlation between the positions of css and introns, whereby css within the exons of one species frequently match the exact position of introns in equivalent genes from another species. These results strongly indicate that many introns were inserted into css during evolution and they also imply that the splicing information that lies outside some introns can be independently recognized by the splicing machinery and was in place prior to intron insertion. This indicates that non-intronic splicing information had a key role in shaping the split structure of eukaryote genes.
5837-5844
Kapustin, Yuri
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Chan, Elcie
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Sarkar, Rupa
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Wong, Frederick
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Vorechovsky, Igor
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Winston, Robert M.
1178982d-1055-4b31-9350-110c14b1ed75
Tatusova, Tatiana
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Dibb, Nick J.
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1 August 2011
Kapustin, Yuri
c2af43d3-9282-4c46-aac8-6d4340422fcc
Chan, Elcie
311a86c1-a435-467e-a879-5b689b7cde87
Sarkar, Rupa
12feddc3-2499-4a09-9025-bee1e10f031c
Wong, Frederick
49203fb9-c859-458c-b119-370e922b0422
Vorechovsky, Igor
7245de2f-8c9b-4034-8935-9a451d9b682e
Winston, Robert M.
1178982d-1055-4b31-9350-110c14b1ed75
Tatusova, Tatiana
d764ad19-ec94-45a4-916e-f94b44357833
Dibb, Nick J.
5cb8e88b-1599-4e4d-9325-2e12dbead341
Kapustin, Yuri, Chan, Elcie, Sarkar, Rupa, Wong, Frederick, Vorechovsky, Igor, Winston, Robert M., Tatusova, Tatiana and Dibb, Nick J.
(2011)
Cryptic splice sites and split genes.
Nucleic Acids Research, 39 (14), .
(doi:10.1093/nar/gkr203).
(PMID:21470962)
Abstract
We describe a new program called cryptic splice finder (CSF) that can reliably identify cryptic splice sites (css), so providing a useful tool to help investigate splicing mutations in genetic disease. We report that many css are not entirely dormant and are often already active at low levels in normal genes prior to their enhancement in genetic disease. We also report a fascinating correlation between the positions of css and introns, whereby css within the exons of one species frequently match the exact position of introns in equivalent genes from another species. These results strongly indicate that many introns were inserted into css during evolution and they also imply that the splicing information that lies outside some introns can be independently recognized by the splicing machinery and was in place prior to intron insertion. This indicates that non-intronic splicing information had a key role in shaping the split structure of eukaryote genes.
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Accepted/In Press date: 5 April 2011
Published date: 1 August 2011
Identifiers
Local EPrints ID: 180631
URI: http://eprints.soton.ac.uk/id/eprint/180631
ISSN: 0305-1048
PURE UUID: d4a825c7-cbb4-45cf-b7dc-bc80700243c7
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Date deposited: 12 Apr 2011 13:03
Last modified: 15 Mar 2024 03:16
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Contributors
Author:
Yuri Kapustin
Author:
Elcie Chan
Author:
Rupa Sarkar
Author:
Frederick Wong
Author:
Robert M. Winston
Author:
Tatiana Tatusova
Author:
Nick J. Dibb
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