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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Autores principales:	Cáceres, J.F., Kornblihtt, A.R.
Formato:	JOUR
Materias:	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
Acceso en línea:	http://hdl.handle.net/20.500.12110/paper_01689525_v18_n4_p186_Caceres
Aporte de:	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

id	todo:paper_01689525_v18_n4_p186_Caceres
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spelling	todo:paper_01689525_v18_n4_p186_Caceres2023-10-03T15:06:54Z Alternative splicing: Multiple control mechanisms and involvement in human disease Cáceres, J.F. Kornblihtt, A.R. 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. JOUR info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by/2.5/ar 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 Cáceres, J.F. Kornblihtt, A.R. 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.
format	JOUR
author	Cáceres, J.F. Kornblihtt, A.R.
author_facet	Cáceres, J.F. Kornblihtt, A.R.
author_sort	Cáceres, J.F.
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
url	http://hdl.handle.net/20.500.12110/paper_01689525_v18_n4_p186_Caceres
work_keys_str_mv	AT caceresjf alternativesplicingmultiplecontrolmechanismsandinvolvementinhumandisease AT kornblihttar alternativesplicingmultiplecontrolmechanismsandinvolvementinhumandisease
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Alternative splicing: Multiple control mechanisms and involvement in human disease

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