Analysis of splicing parameters in the dystrophin gene: Relevance for physiological and pathogenetic splicing mechanisms

Human Genetics

Volumn 109, Issue 1, 2001, Pages 73-84

  Sironi, Manuela ^a   Pozzoli, Uberto ^a   Cagliani, Rachele ^a   Comi, Giacomo P ^b   Bardoni, Alessandra ^a   Bresolin, Nereo ^a  

^a SCIENTIFIC INSTITUTE   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN; RNA;

ARTICLE; BECKER MUSCULAR DYSTROPHY; CONSENSUS SEQUENCE; CORRELATION FUNCTION; DIAGNOSTIC VALUE; DISEASE MARKER; DONOR SITE; DUCHENNE MUSCULAR DYSTROPHY; EXON; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; GENOTYPE; HUMAN; MOLECULAR DYNAMICS; NUCLEIC ACID BASE SUBSTITUTION; PATHOGENESIS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RNA SPLICING; STATISTICAL ANALYSIS; THERMODYNAMICS; TRANSCRIPTION REGULATION;

DYSTROPHIN; EXONS; GENOTYPE; HUMANS; MALE; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; PHENOTYPE; READING FRAMES; RNA SPLICING; RNA, SMALL NUCLEAR; THERMODYNAMICS;

EID: 0034904757     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390100547     Document Type: Article

References (49)

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15. Order of intron removal during splicing of endogenous adenine phosphoribosyltransferase and dihydrofolate reductase pre-mRNA
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24. A splicing enhancer in the human fibronectin alternate ED1 exon interacts with SR proteins and stimulates U2 snRNP binding
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30. The U1 small nuclear RNA-protein complex selectively binds a 5' splice site in vitro
31. Construction of a novel database containing aberrant splicing mutations of mammalian genes
32. Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter
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34. Initial recognition and pairing during pre-mRNA splicing
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42. Six novel transcripts that remove a huge intron ranging from 250 to 800 kb are produced by alternative splicing of the 5' region of the dystrophin gene in human skeletal muscle
43. Circular dystrophin RNAs consisting of exons that were skipped by alternative splicing
44. Polypurine sequence within a downstream exon function as a splicing enhancer
45. The human dystrophin gene requires 16 hours to be transcribed and is cotranscriptionally spliced
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49. Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: Mechanisms of dystrophin production