Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN

Nature Genetics

Volumn 30, Issue 4, 2002, Pages 377-384

  Cartegni, Luca ^a   Krainer, Adrian R ^a  

^a Howard Hughes Medical Institute Cold Spring Harbor Laboratory Cold Spring Harbor   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

ARTICLE; DEGENERATIVE DISEASE; ENHANCER REGION; EXON; GENE MUTATION; HUMAN; INTRON; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SPINAL MUSCULAR ATROPHY;

AMINO ACID MOTIFS; BASE SEQUENCE; CELL LINE; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; DNA MUTATIONAL ANALYSIS; EXONS; HUMANS; INTRONS; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUSCULAR ATROPHY, SPINAL; MUTAGENESIS, SITE-DIRECTED; MUTATION; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PHENOTYPE; POINT MUTATION; PROTEIN BIOSYNTHESIS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA; RNA SPLICING; RNA, MESSENGER; RNA-BINDING PROTEINS; SEQUENCE HOMOLOGY, NUCLEIC ACID; TRANSCRIPTION, GENETIC; TRANSFECTION; ULTRAVIOLET RAYS;

EID: 0036544654     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng854     Document Type: Article

References (50)

1. Population frequencies of inherited neuromuscular diseases - A world survey
2. The role of the SMN gene in proximal spinal muscular atrophy
3. Identification and characterization of a spinal muscular atrophy-determining gene
4. The role of SMN in spinal muscular atrophy
5. A novel nuclear structure containing the survival of motor neurons protein
6. A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs
7. A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing
8. A functional interaction between the survival motor neuron complex and RNA polymerase II
9. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
10. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
11. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
12. Animal models of spinal muscular atrophy
13. Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos
14. A mouse model for spinal muscular atrophy
15. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy
16. Regulation of fibronectin EDA exon alternative splicing: Possible role of RNA secondary structure for enhancer display
17. The role of exon sequences in splice site selection
18. Mammalian pre-mRNA splicing factors
19. Exonic splicing enhancers: Mechanism of action, diversity and role in human genetic diseases
20. A systematic analysis of the factors that determine the strength of pre-mRNA splicing enhancers
21. Polypurine sequences within a downstream exon function as a splicing enhancer
22. Identification of a new class of exonic splicing enhancers by in vivo selection
23. Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins
24. Selection and characterization of pre-mRNA splicing enhancers: Identification of novel SR protein-specific enhancer sequences
25. Exonic splicing enhancer motif recognized by human SC35 under splicing conditions
26. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes
27. A BRCA1 nonsense mutation causes exon skipping
28. Exon definition may facilitate splice site selection in RNAs with multiple exons
29. Mammalian in vitro splicing assays
30. Purification and characterization of pre-mRNA splicing factor SF2 from HeLa cells
31. Preparation of HeLa cell nuclear and cytosolic S100 extracts for in vitro splicing
32. Identification of RNA-protein contacts within functional ribonucleoprotein complexes by RNA site-specific labeling and UV crosslinking
33. Photoreactions of nucleic acids and their constituents with amino acids and related compounds
34. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
35. Splicing defects in the ataxia-telangiectasia gene, ATM: Underlying mutations and consequences
36. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
37. A perfect message: RNA surveillance and nonsense-mediated decay
38. SR proteins are 'locators' of the RNA splicing machinery
39. Switch in 3′ splice site recognition between exon definition and splicing catalysis is important for sex-lethal autoregulation
40. The role of U5 snRNP in pre-mRNA splicing
41. Htra2-β1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)
42. ASF alternative transcripts are highly conserved between mouse and man
43. SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens
44. Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3′ splice site pairing
45. Aclarubicin treatment restores SMN levels to cells derived from type 1 spinal muscular atrophy patients
46. An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: Potential therapy of SMA
47. Treatment of spinal muscular atrophy by sodium butyrate
48. Functions of SR proteins in the U12-dependent AT-AC pre-mRNA splicing pathway
49. Pre-mRNA splicing in the absence of an SR protein RS domain
50. Splicing of precursors to messenger RNAs by the spliceosome