A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition

Journal of Molecular Biology

Volumn 307, Issue 5, 2001, Pages 1261-1270

  Fang, Li Juan ^a   Simard, Martin J ^a   Vidaud, Dominique ^c   Assouline, Brigitte ^c   Lemieux, Bernard ^b   Vidaud, Michel ^c   Chabot, Benoit ^a   Thirion, Jean Paul ^a  

^a UNIVERSITÉ DE SHERBROOKE   (Canada)

^b UNIVERSITY OF SHERBROOKE   (Canada)

^c UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Exon definition; Exon skipping; Neurofibromatosis type 1 (NF1); Neurofibromin; Pre mRNA splicing

Indexed keywords

MESSENGER RNA; NEUROFIBROMIN;

AMINO ACID SUBSTITUTION; ARTICLE; BINDING SITE; CONTROLLED STUDY; EXON; GENE INACTIVATION; GENE MUTATION; HUMAN; NEUROFIBROMATOSIS; NF1 GENE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DETERMINATION; RNA SPLICING;

EID: 0035853287     PISSN: 00222836     EISSN: None     Source Type: Journal    
DOI: 10.1006/jmbi.2001.4561     Document Type: Article

References (50)

1. Molecular basis of neurofibromatosis type 1 (NF1): Mutation analysis and polymorphisms in the NF1 gene
2. Molecular genetics of neurofibromatosis type 1 (NF1)
3. Neurofibromatosis type 1: Piecing the puzzle together
4. Neurofibromatosis 1
5. Neurofibromatosis type 1: A model condition for the study of the molecular basis of variable expressivity in human disorders
6. Distribution of 13 truncating mutations in the neurofibromatosis 1 gene
7. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
8. Toward a survey of somatic mutation of the NF1 gene in benign neurofribromas of patients with neurofibromatosis type 1
9. Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain
10. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure and point mutation
11. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus
12. Type 1 neurofibromatosis gene: Identification of a large transcript disrupted in three NF1 patients
13. Molecular cloning of a cDNA coding for neurofibromatosis type 1 protein isoform lacking the domain related to ras GTPase-activating protein
14. Genomic organization of the neurofibromatosis 1 gene (NF1)
15. RNA processing and clinical variability in neurofibromatosis type 1 (NF1)
16. The neurofibromatosis type 1 messenger RNA undergoes base-modification RNA editing
17. Exon recognition in vertebrate splicing
18. Are vertebrate exons scanned during splice-site selection?
19. Exon definition may facilitate splice site selection in RNAs with multiple exons
20. Intron-exon structures of eukaryotic model organisms
21. U1 snRNP targets an essential splicing factor, U2AF65, to the 3′ splice site by a network of interactions spanning the exon
22. Specific interactions between proteins implicated in splice site selection and regulated alternative splicing
23. Split genes and RNA splicing
24. Directing alternative splicing: Cast and scenarios
25. Effect of 5′ splice site mutations on splicing of the preceding intron
26. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
27. Human gene mutation database: A biomedical information and research resource
28. Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan
29. Exon skipping due to a mutation in a donor splice site in the WT-1 gene is associated with Wilms' tumor and severe genetal malformations
30. Deficiency of the E1β subunit in the branched-chain α-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine disease
31. Selection of splice sites in pre-mRNAs with short internal exons
32. Characterisation and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene
33. Characterisation of a novel splice donor mutation affecting position +1 in intron 18 of the NF-1 gene
34. Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene
35. Exon skipping associated with A → G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene
36. Detection of three novel mutations in two haemophila A patients by rapid screening of whole essential region of factor VIII gene
37. Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients
38. Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes
39. An analysis of variation in expression on neurofibromatosis type 1 (NF1): Evidence for modifying genes
40. Glial cell line-derived neurotrophic factor gene (GDNF) as a candidate type-1 neurofibromatosis (NF1) modifier towwards intestinal neuronal dysplasia
41. Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome
42. A novel and very peculiar HincII polymorphism in the 5′ region of the human neurofibromatosis type 1 (NF1) gene
43. A complex intronic splicing enhancer from the c-src pre-mRNA activates inclusion of a heterologous exon
44. A unique intronic splicing enhancer controls the inclusion of the agrin Y exon
45. A splicing enhancer in the human fibronectin alternate ED1 exon interacts with SR proteins and stimulates U2 snRNP binding
46. Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei
47. An intron element modulating 5′ splice site selection in the hnRNP A1 pre-mRNA interacts with hnRNP A1
48. Alternative splicing of beta-tropomyosin pre-mRNA: Multiple cis-elements can contribute to the use of the 5′- and 3′-splice sites of the nonmuscle/smooth muscle exon 6