A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

Nature Genetics

Volumn 27, Issue 1, 2001, Pages 55-58

  Liu, Hong Xiang ^a,b   Cartegni, Luca ^a   Zhang, Michael Q ^a   Krainer, Adrian R ^a  

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

^b Xencor Inc   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; DNA; MESSENGER RNA;

ARTICLE; BREAST CANCER; CLINICAL ARTICLE; ENHANCER REGION; EXON; GENE MUTATION; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; OPEN READING FRAME; OVARY CANCER; POINT MUTATION; PRIORITY JOURNAL; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID MOTIFS; AMINO ACID SUBSTITUTION; BASE SEQUENCE; BRCA1 PROTEIN; CODON, NONSENSE; ENHANCER ELEMENTS (GENETICS); EXONS; GENES, BRCA1; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NUCLEAR PROTEINS; OPEN READING FRAMES; PHENOTYPE; PHOSPHOPROTEINS; RNA SPLICING; RNA, MESSENGER; RNA-BINDING PROTEINS;

EID: 0035158730     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/83762     Document Type: Article

References (30)

1. Defects in RNA splicing and the consequence of shortened translational reading frames
2. A perfect message: RNA surveillance and nonsense-mediated decay
3. Interrelationships of the pathways of mRNA decay and translation in eukaryotic cells
4. Nonsense surveillance in lymphocytes?
5. Nonsense mutations and altered splice-site selection
6. The association of nonsense codons with exon skipping
7. Characterization of single-nucleotide polymorphisms in coding regions of human genes
8. The regulation of splice-site selection, and its role in human disease
9. A premature termination codon interferes with the nuclear function of an exon splicing enhancer in an open reading frame-dependent manner
10. Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy
11. Single-nucleotide polymorphisms can cause different structural folds of mRNA
12. Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements
13. Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type la disrupting a splicing enhancer resulting in exon 5 skipping
14. The role of exon sequences in splice site selection
15. Mammalian pre-mRNA splicing factors
16. The SR protein family: Pleiotropic functions in pre-mRNA splicing
17. Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins
18. Selection and characterization of pre-mRNA splicing enhancers: Identification of novel SR protein-specific enhancer sequences
19. Exonic splicing enhancer motif recognized by human SC35 under splicing conditions
20. A BRCA1 nonsense mutation causes exon skipping
21. Selection of novel exon recognition elements from a pool of random sequences
22. Identification of a new class of exonic splicing enhancers by in vivo selection
23. Preparation of Hela cell nuclear and cytosolic S100 extracts for in vitro splicing
24. Mammalian in vitro splicing assays
25. Regulation of fibronectin EDA exon alternative splicing: Possible role of RNA secondary structure for enhancer display
26. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
27. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
28. Splicing defects in the ataxia-telangectasia gene, ATM: Underlying mutations and consequences
29. Multiple distinct splicing enhancers in the protein-coding sequences of a constitutively spliced mRNA
30. Substrate specificities of SR proteins in constitutive splicing are determined by their RRMs and composite pre-mRNA exonic elements