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A tissue-specific, naturally occurring human SNF2L variant inactivates chromatin remodeling
Orr Barak1, Maribeth A Lazzaro, Neil S Cooch
1The Wistar Institute, Philadelphia, Pennsylvania 19104, USA.
The Journal of Biological Chemistry
|August 18, 2004
Summary
Mammalian genomes have two SNF2H and SNF2L proteins. A novel SNF2L+13 variant lacks enzymatic activity, with isoform variation regulating human SNF2L expression in tissues.
Area of Science:
- Molecular Biology
- Genetics
- Neuroscience
Background:
- Mammalian genomes encode SNF2H and SNF2L chromatin remodelers.
- Mouse SNF2L is restricted to brain and gonadal tissues, suggesting a role in neuronal function.
- Previous studies linked SNF2L to neurite outgrowth and brain development gene regulation.
Purpose of the Study:
- Identify novel splice variants of human SNF2L.
- Investigate the functional and expression differences between human SNF2L isoforms.
- Determine the role of SNF2L isoform variation in human tissue-specific expression.
Main Methods:
- Identification of a novel human SNF2L splice variant (SNF2L+13).
- Analysis of SNF2L+13's enzymatic activity and complex incorporation.
- Examination of human SNF2L isoform expression patterns across different tissues.
Main Results:
- A novel splice variant, SNF2L+13, was identified within the catalytic core of SNF2L.
- SNF2L+13 incorporates into complexes but lacks enzymatic activity.
- Human SNF2L exhibits ubiquitous expression regulated by isoform variation, with SNF2L+13 predominant in non-neuronal tissues and active SNF2L in neurons.
Conclusions:
- Human SNF2L expression is regulated by alternative splicing, producing functionally distinct isoforms.
- The SNF2L+13 variant contributes to tissue-specific regulation of SNF2L activity.
- Active human SNF2L, similar to mouse SNF2L, is primarily found in neurons and specific tissues.