Article
Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites.
Human mutation - 1 Sept 2009
Le Guédard-Méreuze Sandie, Vaché Christel, Molinari Nicolas, Vaudaine Julie, Claustres Mireille, Roux Anne-Françoise, Tuffery-Giraud Sylvie
Abstract excerpt
Variations at position +3 of 5' splice-sites (5'ss) are reported to induce aberrant splicing in some cases but not in others suggesting that the overall nucleotidic environment can dictate the extent to which 5'ss are correctly selected. Functional studies of three variations identified in donor splice-sites of USH2A and PCDH15 genes sustain this assumption. To gain insights into this question, we compared the...
Topics
- Base Sequence
- Cadherin Related Proteins
- Cadherins
- DNA Mutational Analysis
- Extracellular Matrix Proteins
- Genetic Variation
- HeLa Cells
- Humans
- Molecular Sequence Data
- Mutation
- RNA Splice Sites
- RNA, Small Nuclear
- Ribonucleoprotein, U1 Small Nuclear