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- W2807976613 abstract "Laminopathies yield tissue-specific pathologies, yet arise from mutation of ubiquitously-expressed genes. A little investigated hypothesis to explain this is that the mutated proteins or their partners have tissue-specific splice variants. To test this, we analyzed RNA-Seq datasets, finding novel isoforms or isoform tissue-specificity for: Lap2, linked to cardiomyopathy; Nesprin 2, linked to Emery-Dreifuss muscular dystrophy and Lmo7, that regulates the Emery-Dreifuss muscular dystrophy linked emerin gene. Interestingly, the muscle-specific Lmo7 exon is rich in serine phosphorylation motifs, suggesting regulatory function. Muscle-specific splice variants in non-nuclear envelope proteins linked to other muscular dystrophies were also found. Nucleoporins tissue-specific variants were found for Nup54, Nup133, Nup153 and Nup358/RanBP2. RT-PCR confirmed novel Lmo7 and RanBP2 variants and specific knockdown of the Lmo7 variantreduced myogenic index. Nuclear envelope proteins were enriched for tissue-specific splice variants compared to the rest of the genome, suggesting that splice variants contribute to its tissue-specific functions." @default.
- W2807976613 created "2018-06-21" @default.
- W2807976613 creator A5004773785 @default.
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- W2807976613 creator A5078138161 @default.
- W2807976613 creator A5079392980 @default.
- W2807976613 creator A5086228456 @default.
- W2807976613 date "2018-10-06" @default.
- W2807976613 modified "2023-09-29" @default.
- W2807976613 title "Analysis of RNA-Seq datasets reveals enrichment of tissue-specific splice variants for nuclear envelope proteins" @default.
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