Alternative splicing: Multiple control mechanisms and involvement in human disease
Alternative splicing is an important mechanism for controlling gene expression. It allows large proteomic complexity from a limited number of genes. An interplay of cis-acting sequences and trans-acting factors modulates the splicing of regulated exons. Here, we discuss the roles of the SR and hnRNP...
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2002
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| Acceso en línea: | https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_01689525_v18_n4_p186_Caceres http://hdl.handle.net/20.500.12110/paper_01689525_v18_n4_p186_Caceres |
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paper:paper_01689525_v18_n4_p186_Caceres2023-06-08T15:18:10Z Alternative splicing: Multiple control mechanisms and involvement in human disease cis acting element RNA RNA binding protein trans acting factor transcription factor alternative RNA splicing cystic fibrosis exon gene expression gene expression regulation gene mutation gene number genetic code genetic disorder hemophilia A human Huntington chorea Marfan syndrome missense mutation molecular model myotonic dystrophy nonhuman nonsense mutation nucleotide repeat pathophysiology point mutation priority journal promoter region protein expression protein family protein function protein motif review RNA binding RNA processing RNA transcription Sandhoff disease single nucleotide polymorphism tissue specificity Alternative Splicing Animals Gene Expression Regulation Genetic Predisposition to Disease Heterogeneous-Nuclear Ribonucleoproteins Humans Multigene Family Ribonucleoproteins RNA Splice Sites Trans-Activators Transcription, Genetic Alternative splicing is an important mechanism for controlling gene expression. It allows large proteomic complexity from a limited number of genes. An interplay of cis-acting sequences and trans-acting factors modulates the splicing of regulated exons. Here, we discuss the roles of the SR and hnRNP families of proteins in this process. We also focus on the role of the transcriptional machinery in the regulation of alternative splicing, and on those alterations of alternative splicing that lead to human disease. 2002 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_01689525_v18_n4_p186_Caceres http://hdl.handle.net/20.500.12110/paper_01689525_v18_n4_p186_Caceres |
| institution |
Universidad de Buenos Aires |
| institution_str |
I-28 |
| repository_str |
R-134 |
| collection |
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) |
| topic |
cis acting element RNA RNA binding protein trans acting factor transcription factor alternative RNA splicing cystic fibrosis exon gene expression gene expression regulation gene mutation gene number genetic code genetic disorder hemophilia A human Huntington chorea Marfan syndrome missense mutation molecular model myotonic dystrophy nonhuman nonsense mutation nucleotide repeat pathophysiology point mutation priority journal promoter region protein expression protein family protein function protein motif review RNA binding RNA processing RNA transcription Sandhoff disease single nucleotide polymorphism tissue specificity Alternative Splicing Animals Gene Expression Regulation Genetic Predisposition to Disease Heterogeneous-Nuclear Ribonucleoproteins Humans Multigene Family Ribonucleoproteins RNA Splice Sites Trans-Activators Transcription, Genetic |
| spellingShingle |
cis acting element RNA RNA binding protein trans acting factor transcription factor alternative RNA splicing cystic fibrosis exon gene expression gene expression regulation gene mutation gene number genetic code genetic disorder hemophilia A human Huntington chorea Marfan syndrome missense mutation molecular model myotonic dystrophy nonhuman nonsense mutation nucleotide repeat pathophysiology point mutation priority journal promoter region protein expression protein family protein function protein motif review RNA binding RNA processing RNA transcription Sandhoff disease single nucleotide polymorphism tissue specificity Alternative Splicing Animals Gene Expression Regulation Genetic Predisposition to Disease Heterogeneous-Nuclear Ribonucleoproteins Humans Multigene Family Ribonucleoproteins RNA Splice Sites Trans-Activators Transcription, Genetic Alternative splicing: Multiple control mechanisms and involvement in human disease |
| topic_facet |
cis acting element RNA RNA binding protein trans acting factor transcription factor alternative RNA splicing cystic fibrosis exon gene expression gene expression regulation gene mutation gene number genetic code genetic disorder hemophilia A human Huntington chorea Marfan syndrome missense mutation molecular model myotonic dystrophy nonhuman nonsense mutation nucleotide repeat pathophysiology point mutation priority journal promoter region protein expression protein family protein function protein motif review RNA binding RNA processing RNA transcription Sandhoff disease single nucleotide polymorphism tissue specificity Alternative Splicing Animals Gene Expression Regulation Genetic Predisposition to Disease Heterogeneous-Nuclear Ribonucleoproteins Humans Multigene Family Ribonucleoproteins RNA Splice Sites Trans-Activators Transcription, Genetic |
| description |
Alternative splicing is an important mechanism for controlling gene expression. It allows large proteomic complexity from a limited number of genes. An interplay of cis-acting sequences and trans-acting factors modulates the splicing of regulated exons. Here, we discuss the roles of the SR and hnRNP families of proteins in this process. We also focus on the role of the transcriptional machinery in the regulation of alternative splicing, and on those alterations of alternative splicing that lead to human disease. |
| title |
Alternative splicing: Multiple control mechanisms and involvement in human disease |
| title_short |
Alternative splicing: Multiple control mechanisms and involvement in human disease |
| title_full |
Alternative splicing: Multiple control mechanisms and involvement in human disease |
| title_fullStr |
Alternative splicing: Multiple control mechanisms and involvement in human disease |
| title_full_unstemmed |
Alternative splicing: Multiple control mechanisms and involvement in human disease |
| title_sort |
alternative splicing: multiple control mechanisms and involvement in human disease |
| publishDate |
2002 |
| url |
https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_01689525_v18_n4_p186_Caceres http://hdl.handle.net/20.500.12110/paper_01689525_v18_n4_p186_Caceres |
| _version_ |
1768544953592446976 |