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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado: 2002
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: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
Aporte de:
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires
Descripción
Sumario: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.

Ejemplares similares