The splicing machinery is a genetic modifier of disease severity |
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Authors: | Nissim-Rafinia Malka Kerem Batsheva |
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Institution: | Department of Genetics, The Life Sciences Institute, The Hebrew University, Jerusalem, Israel. |
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Abstract: | 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. |
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