Article
A genetic screen for suppressors of a mutated 5' splice site identifies factors associated with later steps of spliceosome assembly.
Genetics - 1 Jul 2009
Dassah Maryann, Patzek Sophie, Hunt Valerie M, Medina Pedro E, Zahler Alan M
Abstract excerpt
Many alleles of human disease genes have mutations within splicing consensus sequences that activate cryptic splice sites. In Caenorhabditis elegans, the unc-73(e936) allele has a G-to-U mutation at the first base of the intron downstream of exon 15, which results in an uncoordinated phenotype. This mutation triggers cryptic splicing at the -1 and +23 positions and retains some residual splicing at the mutated...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Caenorhabditis elegans
- Caenorhabditis elegans Proteins
- Chromosome Mapping
- Female
- Intracellular Signaling Peptides and Proteins
- Male
- Molecular Sequence Data
- Motor Activity
- Mutation
- Nerve Tissue Proteins