Functional studies on the ATM intronic splicing processing element
نویسندگان
چکیده
منابع مشابه
Functional studies on the ATM intronic splicing processing element
In disease-associated genes, the understanding of the functional significance of deep intronic nucleotide variants may represent a difficult challenge. We have previously reported a new disease-causing mechanism that involves an intronic splicing processing element (ISPE) in ATM, composed of adjacent consensus 5' and 3' splice sites. A GTAA deletion within ISPE maintains potential adjacent spli...
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Examination of the human transcriptome reveals higher levels of RNA editing than in any other organism tested to date. This is indicative of extensive double-stranded RNA (dsRNA) formation within the human transcriptome. Most of the editing sites are located in the primate-specific retrotransposed element called Alu. A large fraction of Alus are found in intronic sequences, implying extensive A...
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ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 2005
ISSN: 0305-1048,1362-4962
DOI: 10.1093/nar/gki710