Complex splicing pattern generates great diversity in human <it>NF1</it> transcripts
<p>Abstract</p> <p>Background</p> <p>Mutation analysis of the neurofibromatosis type 1 (<it>NF1</it>) gene has shown that about 30% of NF1 patients carry a splice mutation resulting in the production of one or several shortened transcripts. Some of these tra...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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BMC
2002-05-01
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| Series: | BMC Genomics |
| Online Access: | http://www.biomedcentral.com/1471-2164/3/13 |
| _version_ | 1811299227763998720 |
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| author | De Paepe Anne Callens Tom Vandenbroucke Ina Messiaen Ludwine |
| author_facet | De Paepe Anne Callens Tom Vandenbroucke Ina Messiaen Ludwine |
| author_sort | De Paepe Anne |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>Mutation analysis of the neurofibromatosis type 1 (<it>NF1</it>) gene has shown that about 30% of NF1 patients carry a splice mutation resulting in the production of one or several shortened transcripts. Some of these transcripts were also found in fresh lymphocytes of healthy individuals, albeit typically at a very low level. Starting from this initial observation, we were interested to gain further insight into the complex nature of <it>NF1</it> mRNA processing.</p> <p>Results</p> <p>We have used a RT-PCR plasmid library based method to identify novel <it>NF1</it> splice variants. Several transcripts were observed with specific insertions/deletions and a survey was made. This large group of variants detected in one single gene allows to perform a comparative analysis of the factors involved in splice regulation. Exons that are prone to skipping were systematically analysed for 5' and 3' splice site strength, branch point strength and secondary structure.</p> <p>Conclusion</p> <p>Our study revealed a complex splicing pattern, generating a great diversity in <it>NF1</it> transcripts. We found that, on average, exons that are spliced out in part of the mRNA have significantly weaker acceptor sites. Some variants identified in this study could have distinct roles and might expand our knowledge of neurofibromin.</p> |
| first_indexed | 2024-04-13T06:33:03Z |
| format | Article |
| id | doaj.art-93dc5011ef4844c3878c49f57a8017fc |
| institution | Directory Open Access Journal |
| issn | 1471-2164 |
| language | English |
| last_indexed | 2024-04-13T06:33:03Z |
| publishDate | 2002-05-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Genomics |
| spelling | doaj.art-93dc5011ef4844c3878c49f57a8017fc2022-12-22T02:58:03ZengBMCBMC Genomics1471-21642002-05-01311310.1186/1471-2164-3-13Complex splicing pattern generates great diversity in human <it>NF1</it> transcriptsDe Paepe AnneCallens TomVandenbroucke InaMessiaen Ludwine<p>Abstract</p> <p>Background</p> <p>Mutation analysis of the neurofibromatosis type 1 (<it>NF1</it>) gene has shown that about 30% of NF1 patients carry a splice mutation resulting in the production of one or several shortened transcripts. Some of these transcripts were also found in fresh lymphocytes of healthy individuals, albeit typically at a very low level. Starting from this initial observation, we were interested to gain further insight into the complex nature of <it>NF1</it> mRNA processing.</p> <p>Results</p> <p>We have used a RT-PCR plasmid library based method to identify novel <it>NF1</it> splice variants. Several transcripts were observed with specific insertions/deletions and a survey was made. This large group of variants detected in one single gene allows to perform a comparative analysis of the factors involved in splice regulation. Exons that are prone to skipping were systematically analysed for 5' and 3' splice site strength, branch point strength and secondary structure.</p> <p>Conclusion</p> <p>Our study revealed a complex splicing pattern, generating a great diversity in <it>NF1</it> transcripts. We found that, on average, exons that are spliced out in part of the mRNA have significantly weaker acceptor sites. Some variants identified in this study could have distinct roles and might expand our knowledge of neurofibromin.</p>http://www.biomedcentral.com/1471-2164/3/13 |
| spellingShingle | De Paepe Anne Callens Tom Vandenbroucke Ina Messiaen Ludwine Complex splicing pattern generates great diversity in human <it>NF1</it> transcripts BMC Genomics |
| title | Complex splicing pattern generates great diversity in human <it>NF1</it> transcripts |
| title_full | Complex splicing pattern generates great diversity in human <it>NF1</it> transcripts |
| title_fullStr | Complex splicing pattern generates great diversity in human <it>NF1</it> transcripts |
| title_full_unstemmed | Complex splicing pattern generates great diversity in human <it>NF1</it> transcripts |
| title_short | Complex splicing pattern generates great diversity in human <it>NF1</it> transcripts |
| title_sort | complex splicing pattern generates great diversity in human it nf1 it transcripts |
| url | http://www.biomedcentral.com/1471-2164/3/13 |
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