Alternative splicing: Multiple control mechanisms and involvement in human disease

Trends in Genetics

Volumn 18, Issue 4, 2002, Pages 186-193

  Cáceres, Javier F ^a   Kornblihtt, Alberto R ^b  

^a WESTERN GENERAL HOSPITAL   (United Kingdom)

^b INSTITUTO DE FISIOLOGÍA   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

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;

EID: 0036534129     PISSN: 01689525     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-9525(01)02626-9     Document Type: Review

References (88)

1. Protein diversity from alternative splicing: A challenge for bioinformatics and post-genome biology
2. Alternative splicing: Increasing diversity in the proteomic world
3. The structure and function of proteins involved in mammalian pre-mRNA splicing
4. hnRNP proteins and the biogenesis of mRNA
5. Alternative pre-mRNA splicing: The logic of combinatorial control
6. Exon recognition in vertebrate splicing
7. Mechanisms for selecting 5′ splice sites in mammalian pre-mRNA splicing
8. The superfamily of arginine/serine-rich splicing factors
9. Sorting out the complexity of SR protein functions
10. Determinants of SR protein specificity
11. Specific interactions between proteins implicated in splice site selection and regulated alternative splicing
12. Exonic splicing enhancers: Mechanism of action, diversity and role in human genetic diseases
13. Regulation of alternative pre-mRNA splicing by hnRNP A1 and splicing factor SF2
14. Regulation of alternative splicing in vivo by overexpression of antagonistic splicing factors
15. The A1 and A1B proteins of heterogeneous nuclear ribonucleoparticles modulate 5′ splice site selection in vivo
16. The SR splicing factors ASF/SF2 and SC35 have antagonistic effects on intronic enhancer-dependent splicing of the beta-tropomyosin alternative exon 6A
17. The splicing factor SRp20 modifies splicing of its own mRNA and ASF/SF2 antagonizes this regulation
18. Selection of alternative 5′ splice sites: Role of U1 snRNP and models for the antagonistic effects of SF2/ASF and hnRNP A1
19. An intron element modulating 5′ splice site selection in the hnRNP A1 pre-mRNA interacts with hnRNP A1
20. Multiple interactions between SRm160 and SR family proteins in enhancer-dependent splicing and development of C. elegans
21. Pre-mRNA splicing in the new millennium
22. Exon identity established through differential antagonism between exonic splicing silencer-bound hnRNP A1 and enhancer-bound SR proteins
23. Distinct functions of SR proteins in alternative pre-mRNA splicing
24. Regulated tissue-specific expression of antagonistic pre-mRNA splicing factors
25. Targeted disruption of an essential vertebrate gene: ASF/SF2 is required for cell viability
26. Blastocyst formation is blocked in mouse embryos lacking the splicing factor SRp20
27. SC35 plays a role in T cell development and alternative splicing of CD45
28. The SR protein B52/SRp55 is essential for Drosophila development
29. Genetic enhancement of RNA-processing defects by a dominant mutation in B52, the Drosophila gene for an SR protein splicing factor
30. Pre-mRNA splicing by the essential Drosophila protein B52: Tissue and target specificity
31. Functional characterization of SR and SR-related genes in Caenorhabditis elegans
32. Unique and redundant functions of SR proteins, a conserved family of splicing factors, in Caenorhabditis elegans development
33. Post-transcriptional regulation: The dawn of PTB
34. Differential alternative splicing activity of isoforms of polypyrimidine tract binding protein (PTB)
35. The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing
36. Alternative RNA splicing in the nervous system
37. A sequence compilation and comparison of exons that are alternatively spliced in neurons
38. Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability
39. A brain-enriched polypyrimidine tract-binding protein antagonizes the ability of Nova to regulate neuron-specific alternative splicing
40. Cooperative assembly of an hnRNP complex induced by a tissue-specific homolog of polypyrimidine tract binding protein
41. Coupling RNA polymerase II transcription with pre-mRNA processing
42. RNA polymerase II and the integration of nuclear events
43. Connecting transcription to messenger RNA processing
44. The dynamics of a pre-mRNA splicing factor in living cells
45. RNA polymerase II targets pre-mRNA splicing factors to transcription sites in vivo
46. The C-terminal domain of RNA polymerase II couples mRNA processing to transcription
47. Functional association between promoter structure and transcript alternative splicing
48. Coupling of transcription with alternative splicing: RNA pol II promoters modulate SF2/ASF and 9G8 effects on an exonic splicing enhancer
49. A novel transcriptional coactivator, p52, functionally interacts with the essential splicing factor ASF/SF2
50. A human papillomavirus E2 transcriptional activator. The interactions with cellular splicing factors and potential function in pre-mRNA processing
51. WT1 interacts with the splicing factor U2AF65 in an isoform-dependent manner and can be incorporated into spliceosomes
52. Direct coupling of transcription and mRNA processing through the thermogenic coactivator PGC-1
53. SAF-B protein couples transcription and pre-mRNA splicing to SAR/MAR elements
54. The splicing factor, Prp40, binds the phosphorylated carboxyl-terminal domain of RNA polymerase II
55. Phosphorylation of RNA polymerase II CTD fragments results in tight binding to the WW domain from the yeast prolyl isomerase Ess1
56. Protein-interaction modules that organize nuclear function: FF domains of CA150 bind the phosphoCTD of RNA polymerase II
57. The C-terminal domain of the largest subunit of RNA polymerase II interacts with a novel set of serine/arginine-rich proteins
58. A nuclear matrix protein interacts with the phosphorylated C-terminal domain of RNA polymerase II
59. Antagonistic effects of T-Ag and VP16 reveal a role for RNA pol II elongation on alternative splicing
60. Effects of RNA secondary structure on alternative splicing of pre-mRNA: Is folding limited to a region behind the transcribing RNA polymerase?
61. Co-transcriptional commitment to alternative splice site selection
62. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
63. Quality control of mRNA function
64. Coupled transcription and translation within nuclei of mammalian cells
65. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes
66. Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping
67. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
68. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy
69. Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: A synonymous codon mutation at -22 bp from the 5′ splice site causes skipping of exon 3
70. A BRCA1 nonsense mutation causes exon skipping
71. Characterization of the 415G→A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping
72. Silent nucleotide substitution in the sterol 27-hydroxylase gene (CYP 27) leads to alternative pre-mRNA splicing by activating a cryptic 5′ splice site at the mutant codon in cerebrotendinous xanthomatosis patients
73. A nonsense codon of exon 14 reduces lysyl hydroxylase mRNA and leads to aberrant RNA splicing in a patient with Ehlers-Danlos syndrome type VI
74. Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia
75. Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements
76. Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: Expansion of the disease phenotype caused by tau gene mutations
77. Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy
78. Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome
79. Single exon mutation in arylsulfatase A gene has two effects: Loss of enzyme activity and aberrant splicing
80. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
81. Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency
82. Familial porphyria cutanea tarda: Characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles
83. A novel exon mutation in the human β-hexosaminidase beta subunit gene affects 3′ splice site selection
84. Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: Implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA
85. Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype
86. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
87. Hereditary tyrosinemia type 1: Novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship
88. A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation