منابع مشابه
Feature subset selection for splice site prediction
MOTIVATION The large amount of available annotated Arabidopsis thaliana sequences allows the induction of splice site prediction models with supervised learning algorithms (see Haussler (1998) for a review and references). These algorithms need information sources or features from which the models can be computed. For splice site prediction, the features we consider in this study are the presen...
متن کاملSplice site selection in the dystrophin gene
The dystrophin gene is the largest gene in the human genome, and it codes for a protein which plays an important role in anchoring the cytoskeleton to the cell membrane. Mutations in the gene may cause Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD), an allelic variant. Currently genetic therapy holds great promise in finding a cure through exon skipping by restoring the pr...
متن کاملA 5' splice site mutation in fucosidosis.
Fucosidosis is a rare, autosomal recessive, lysosomal storage disease, resulting from a deficiency of the enzyme alpha-fucosidase (EC 3.2.1.51). It is characterised clinically by progressive mental and motor deterioration, growth retardation, coarse facies, and often recurrent infections, but the course of the disease is variable. The gene encoding lysosomal alpha-fucosidase has been mapped to ...
متن کاملIntronic and exonic sequences modulate 5' splice site selection in plant nuclei.
Pre-mRNA transcripts in a variety of organisms, including plants, Drosophila and Caenorhabditis elegans, contain introns which are significantly richer in adenosine and uridine residues than their flanking exons. Previous analyses using exonic and intronic replacements between two nonequivalent 5'splice sites in the 469 nt long rbcS3A intron 1 provided the first evidence indicating that, in bot...
متن کاملExperimental tests of two proofreading mechanisms for 5'-splice site selection.
Self-splicing group II intron RNAs catalyze a two-step process in which the intron is excised as a lariat by two successive phosphodiester exchange reactions. The reversibility of the first step has been hypothesized to act as a proofreading mechanism for improper 5'-splice site selection. However, without synthetic access to mis-spliced RNAs, this hypothesis could not be tested. Here, we used ...
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ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 2001
ISSN: 0021-9258
DOI: 10.1074/jbc.m008950200