A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer

Genes and Development

Volumn 16, Issue 14, 2002, Pages 1754-1759

  Caputi, Massimo ^a   Kendzior Jr , Raymond J ^a   Beemon, Karen L ^a  

^a JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

ESE; Exon skipping; FBN1; Marfan syndrome; NMD; SR proteins

Indexed keywords

FIBRILLIN;

ARTICLE; CONTROLLED STUDY; EXON; GENE DISRUPTION; GENE INSERTION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; IN VITRO STUDY; IN VIVO STUDY; MARFAN SYNDROME; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN SYNTHESIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; RNA TRANSLATION; TRANSLATION REGULATION;

ALTERNATIVE SPLICING; BASE SEQUENCE; CELLS, CULTURED; CODON; CODON, NONSENSE; ENHANCER ELEMENTS (GENETICS); EXONS; HUMANS; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MOLECULAR SEQUENCE DATA; PROTEIN BIOSYNTHESIS; RNA PRECURSORS;

INSERTION SEQUENCES;

EID: 0037099302     PISSN: 08909369     EISSN: None     Source Type: Journal    
DOI: 10.1101/gad.997502     Document Type: Article

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5. Maintenance of an open reading frame as an additional level of scrutiny during splice site selection
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13. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes
14. Exonic splicing enhancer motif recognized by human SC35 under splicing conditions
15. Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome
16. Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome
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19. Quality control of mRNA function
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21. When the message goes awry: Disease producing mutations that influence mRNA content and performance
22. The Marfan syndrome
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24. Selection and characterization of pre-mRNA splicing enhancers: Identification of novel SR proteinspecific enhancer, sequences
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27. A splicing enhancer exhibits both constitutive and regulated activities
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31. Multifunctional regulatory proteins that control gene expression in both the nucleus and the cytoplasm
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34. Purification of SR protein splicing factors
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