Key result
Emerin-null myogenic progenitors exhibited 1605 uniquely expressed genes during early differentiation compared to wildtype cells, indicating inhibition of pathways associated with muscle growth.
Emerin-null myogenic progenitors exhibit significant transcriptional dysregulation during early differentiation, implicating emerin in the transcriptional reprogramming of progenitors to committed myoblasts.
No clinical translation from emerin-null progenitor data; leaves open its role in human myogenic differentiation.
Mutations in the gene encoding emerin cause Emery-Dreifuss muscular dystrophy (EDMD), a disorder causing progressive skeletal muscle wasting, irregular heart rhythms and contractures of major tendons. RNA sequencing was performed on differentiating wildtype and emerin-null myogenic progenitors to identify molecular pathways implicated in EDMD, 340 genes were uniquely differentially expressed during the transition from day 0 to day 1 in wildtype cells. 1605 genes were uniquely expressed in emerin-null cells; 1706 genes were shared among both wildtype and emerin-null cells. One thousand and forty-seven transcripts showed differential expression during the transition from day 1 to day 2. Four hundred and thirty-one transcripts showed altered expression in both wildtype and emerin-null cells. Two hundred and ninety-five transcripts were differentially expressed only in emerin-null cells and 321 transcripts were differentially expressed only in wildtype cells. DAVID, STRING and Ingenuity Pathway Analysis identified pathways implicated in impaired emerin-null differentiation, including cell signaling, cell cycle checkpoints, integrin signaling, YAP/TAZ signaling, stem cell differentiation, and multiple muscle development and myogenic differentiation pathways. Functional enrichment analysis showed biological functions associated with the growth of muscle tissue and myogenesis of skeletal muscle were inhibited. The large number of differentially expressed transcripts upon differentiation induction suggests emerin functions during transcriptional reprograming of progenitors to committed myoblasts.
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Iyer et al. (2017) studied Emery-Dreifuss muscular dystrophy. Emerin-null mutation vs. Wildtype myogenic progenitors was evaluated on Differential gene expression during differentiation. Emerin-null myogenic progenitors exhibited 1605 uniquely expressed genes during early differentiation compared to wildtype cells, indicating inhibition of pathways associated with muscle growth.
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