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Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2
Both survival of motor neuron (SMN) genes are associated with spinal muscular atrophy; mutations in SMN1 cause the disease, and SMN2 modulates its severity. It is established that different alternative splicing of exon 7 occurs for SMN1 and SMN2, and a cryptic exon was recently found in intron 6 of...
| Autores principales: | , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131094/ https://www.ncbi.nlm.nih.gov/pubmed/27917293 http://dx.doi.org/10.1038/hgv.2016.40 |
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| author | Yoshimoto, Satomi Harahap, Nur Imma Fatimah Hamamura, Yuko Ar Rochmah, Mawaddah Shima, Ai Morisada, Naoya Shinohara, Masakazu Saito, Toshio Saito, Kayoko Lai, Poh San Matsuo, Masafumi Awano, Hiroyuki Morioka, Ichiro Iijima, Kazumoto Nishio, Hisahide |
| author_facet | Yoshimoto, Satomi Harahap, Nur Imma Fatimah Hamamura, Yuko Ar Rochmah, Mawaddah Shima, Ai Morisada, Naoya Shinohara, Masakazu Saito, Toshio Saito, Kayoko Lai, Poh San Matsuo, Masafumi Awano, Hiroyuki Morioka, Ichiro Iijima, Kazumoto Nishio, Hisahide |
| author_sort | Yoshimoto, Satomi |
| collection | PubMed |
| description | Both survival of motor neuron (SMN) genes are associated with spinal muscular atrophy; mutations in SMN1 cause the disease, and SMN2 modulates its severity. It is established that different alternative splicing of exon 7 occurs for SMN1 and SMN2, and a cryptic exon was recently found in intron 6 of both genes. Here, we characterize this cryptic exon and clarify its alternative splicing pattern in control and spinal muscular atrophy cells. |
| format | Online Article Text |
| id | pubmed-5131094 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2016 |
| publisher | Nature Publishing Group |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-51310942016-12-02 Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2 Yoshimoto, Satomi Harahap, Nur Imma Fatimah Hamamura, Yuko Ar Rochmah, Mawaddah Shima, Ai Morisada, Naoya Shinohara, Masakazu Saito, Toshio Saito, Kayoko Lai, Poh San Matsuo, Masafumi Awano, Hiroyuki Morioka, Ichiro Iijima, Kazumoto Nishio, Hisahide Hum Genome Var Data Report Both survival of motor neuron (SMN) genes are associated with spinal muscular atrophy; mutations in SMN1 cause the disease, and SMN2 modulates its severity. It is established that different alternative splicing of exon 7 occurs for SMN1 and SMN2, and a cryptic exon was recently found in intron 6 of both genes. Here, we characterize this cryptic exon and clarify its alternative splicing pattern in control and spinal muscular atrophy cells. Nature Publishing Group 2016-12-01 /pmc/articles/PMC5131094/ /pubmed/27917293 http://dx.doi.org/10.1038/hgv.2016.40 Text en Copyright © 2016 The Author(s) http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
| spellingShingle | Data Report Yoshimoto, Satomi Harahap, Nur Imma Fatimah Hamamura, Yuko Ar Rochmah, Mawaddah Shima, Ai Morisada, Naoya Shinohara, Masakazu Saito, Toshio Saito, Kayoko Lai, Poh San Matsuo, Masafumi Awano, Hiroyuki Morioka, Ichiro Iijima, Kazumoto Nishio, Hisahide Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2 |
| title | Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2 |
| title_full | Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2 |
| title_fullStr | Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2 |
| title_full_unstemmed | Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2 |
| title_short | Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2 |
| title_sort | alternative splicing of a cryptic exon embedded in intron 6 of smn1 and smn2 |
| topic | Data Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131094/ https://www.ncbi.nlm.nih.gov/pubmed/27917293 http://dx.doi.org/10.1038/hgv.2016.40 |
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