Interaction of hnRNPA1/A2 and DAZAP1 with an Alu-Derived Intronic Splicing Enhancer Regulates ATM Aberrant Splicing
2011
How Certain Proteins Affect Splicing of a Gene Related to Ataxia
publication
Evidence: moderate
Author Information
Author(s): Pastor Tibor Pagani, Franco Cotterill
Primary Institution: International Centre for Genetic Engineering and Biotechnology, Trieste, Italy
Hypothesis
The interaction of hnRNPA1/A2 and DAZAP1 with an Alu-derived intronic splicing enhancer regulates ATM aberrant splicing.
Conclusion
The study identifies hnRNPA1/A2 as a negative regulator and DAZAP1 as a positive regulator of cryptic exon inclusion in the ATM gene.
Supporting Evidence
- hnRNPA1 negatively affects splicing selection while DAZAP1 positively influences it.
- Depletion of hnRNPA1 leads to increased cryptic exon inclusion.
- DAZAP1 knockdown results in a modest increase in cryptic exon exclusion.
Takeaway
Some proteins can help or hurt the process of making a gene's final message, which can affect how diseases like ataxia develop.
Methodology
The study used RNA pull-down assays and functional studies with overexpression and siRNA experiments to analyze splicing factor interactions.
Digital Object Identifier (DOI)
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