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The ESSENCE of exon inclusion
Email: Jonathan Weitzman - jonathanweitzman@hotmail.com News from The Scientist 2003, 4(1):20030114-01 doi:10.1186/20030114-01
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Many human genetic diseases are due to point mutations that cause aberrant splicing. These may affect splice site sequences directly, or may disrupt regulatory elements such as exonic splicing enhancers (ESE). ESEs are binding sites for serine/arginine-rich (SR) splicing factor proteins. In an Advanced Online Publication in Nature Structural Biology, Luca Cartegni and Adrian Krainer, at Cold Spring Harbor Laboratory, New York, US, describe the design of synthetic proteins that can promote specific exon inclusion (Nature Structural Biology, DOI:10.1038/nsb887, 13 January 2003).
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