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alternative splicing

Sunday 13 July 2003

Alternative splicing (AS) is more a rule than an exception as it affects the expression of 60% of human genes.

Alternative splicing explains how a vast mammalian proteomic complexity is achieved with a limited number of genes.

Mutations in AS regulatory sequences are a widespread source of human disease.

AS regulation not only depends on the interaction of splicing factors with their target sequences in the pre-mRNA but is coupled to transcription.

A clearer picture is emerging of the mechanisms by which transcription affects AS through promoter identity and occupation.

These mechanisms involve the recruitment of factors with dual functions in transcription and splicing (i.e. that contain both functional domains and hence link the two processes) and the control of RNA polymerase II elongation.

See also

- tumor-specific alternative splicing


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