RNA-Binding Proteins: Splicing Factors and Disease
Pre-mRNA splicing is mediated by interactions of the Core Spliceosome and an array of accessory RNA binding proteins with cis-sequence elements. Splicing is a major regulatory component in higher eukaryotes. Disruptions in splicing are a major contributor to human disease. One in three hereditary di...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2015-05-01
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| Series: | Biomolecules |
| Subjects: | |
| Online Access: | http://www.mdpi.com/2218-273X/5/2/893 |
| _version_ | 1819053009862131712 |
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| author | Alger M. Fredericks Kamil J. Cygan Brian A. Brown William G. Fairbrother |
| author_facet | Alger M. Fredericks Kamil J. Cygan Brian A. Brown William G. Fairbrother |
| author_sort | Alger M. Fredericks |
| collection | DOAJ |
| description | Pre-mRNA splicing is mediated by interactions of the Core Spliceosome and an array of accessory RNA binding proteins with cis-sequence elements. Splicing is a major regulatory component in higher eukaryotes. Disruptions in splicing are a major contributor to human disease. One in three hereditary disease alleles are believed to cause aberrant splicing. Hereditary disease alleles can alter splicing by disrupting a splicing element, creating a toxic RNA, or affecting splicing factors. One of the challenges of medical genetics is identifying causal variants from the thousands of possibilities discovered in a clinical sequencing experiment. Here we review the basic biochemistry of splicing, the mechanisms of splicing mutations, the methods for identifying splicing mutants, and the potential of therapeutic interventions. |
| first_indexed | 2024-12-21T12:28:55Z |
| format | Article |
| id | doaj.art-fcdf14c97f1342ecb5940434a234d4b1 |
| institution | Directory Open Access Journal |
| issn | 2218-273X |
| language | English |
| last_indexed | 2024-12-21T12:28:55Z |
| publishDate | 2015-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biomolecules |
| spelling | doaj.art-fcdf14c97f1342ecb5940434a234d4b12022-12-21T19:04:06ZengMDPI AGBiomolecules2218-273X2015-05-015289390910.3390/biom5020893biom5020893RNA-Binding Proteins: Splicing Factors and DiseaseAlger M. Fredericks0Kamil J. Cygan1Brian A. Brown2William G. Fairbrother3Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, 70 Ship Street, Providence, RI 02903, USADepartment of Molecular Biology, Cell Biology, and Biochemistry, Brown University, 70 Ship Street, Providence, RI 02903, USADepartment of Molecular Biology, Cell Biology, and Biochemistry, Brown University, 70 Ship Street, Providence, RI 02903, USADepartment of Molecular Biology, Cell Biology, and Biochemistry, Brown University, 70 Ship Street, Providence, RI 02903, USAPre-mRNA splicing is mediated by interactions of the Core Spliceosome and an array of accessory RNA binding proteins with cis-sequence elements. Splicing is a major regulatory component in higher eukaryotes. Disruptions in splicing are a major contributor to human disease. One in three hereditary disease alleles are believed to cause aberrant splicing. Hereditary disease alleles can alter splicing by disrupting a splicing element, creating a toxic RNA, or affecting splicing factors. One of the challenges of medical genetics is identifying causal variants from the thousands of possibilities discovered in a clinical sequencing experiment. Here we review the basic biochemistry of splicing, the mechanisms of splicing mutations, the methods for identifying splicing mutants, and the potential of therapeutic interventions.http://www.mdpi.com/2218-273X/5/2/893RNA-binding proteinsmotifsplicing |
| spellingShingle | Alger M. Fredericks Kamil J. Cygan Brian A. Brown William G. Fairbrother RNA-Binding Proteins: Splicing Factors and Disease Biomolecules RNA-binding proteins motif splicing |
| title | RNA-Binding Proteins: Splicing Factors and Disease |
| title_full | RNA-Binding Proteins: Splicing Factors and Disease |
| title_fullStr | RNA-Binding Proteins: Splicing Factors and Disease |
| title_full_unstemmed | RNA-Binding Proteins: Splicing Factors and Disease |
| title_short | RNA-Binding Proteins: Splicing Factors and Disease |
| title_sort | rna binding proteins splicing factors and disease |
| topic | RNA-binding proteins motif splicing |
| url | http://www.mdpi.com/2218-273X/5/2/893 |
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