Jul 26, 2005

The splicing machinery is a genetic modifier of disease severity

Trends in Genetics : TIG
Malka Nissim-Rafinia, Batsheva Kerem


Disease severity correlates with the level of correctly spliced RNA transcribed from genes carrying splicing mutations and with the ratio of alternatively spliced isoforms. Hence, a role for splicing regulation as a genetic modifier has been suggested. Here we discuss recent experiments that provide direct evidence that changes in the level of splicing factors modulate the splicing pattern of disease-associated genes. Importantly, modulation of the splicing pattern led to regulation of the protein function and modification of disease severity.

  • References26
  • Citations55

Mentioned in this Paper

MBNL1 gene
NOVA1 protein, human
Nested Transcripts
Genetic Disorders Screening
Severity of Illness Index
Protein Function

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