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| Item Type: | Article |
|---|---|
| Title: | SLM2 is a novel cardiac splicing factor involved in heart failure due to dilated cardiomyopathy |
| Creators Name: | Boeckel, J.N. and Möbius-Winkler, M. and Müller, M. and Rebs, S. and Eger, N. and Schoppe, L. and Tappu, R. and Kokot, K.E. and Kneuer, J.M. and Gaul, S. and Bordalo, D.M. and Lai, A. and Haas, J. and Ghanbari, M. and Drewe-Boss, P. and Liss, M. and Katus, H.A. and Ohler, U. and Gotthardt, M. and Laufs, U. and Streckfuss-Bömeke, K. and Meder, B. |
| Abstract: | Alternative mRNA splicing is a fundamental process to increase the versatility of the genome. In humans, cardiac mRNA splicing is involved in the pathophysiology of heart failure. Mutations in the splicing factor RNA binding motif protein 20 (RBM20) cause severe forms of cardiomyopathy. To identify novel cardiomyopathy-associated splicing factors, RNA-seq and tissue-enrichment analysis were performed, which identified upregulation of Sam68-Like Mammalian Protein 2 (SLM2) in the left ventricle of dilated cardiomyopathy (DCM) patients. In the human heart, SLM2 binds to important transcripts of sarcomere constituents, such as myosin light chain 2 (MYL2), troponin I3 (TNNI3), troponin T2 (TNNT2), tropomyosin 1/2 (TPM1/2), and titin (TTN). Mechanistically, SLM2 mediates intron retention, prevents exon exclusion, and thereby mediates alternative splicing of the mRNA regions encoding the variable proline-, glutamate-, valine-, and lysine-rich (PEVK) domain and another part of the I-band region of titin. In summary, SLM2 is a novel cardiac splicing regulator with essential functions for maintaining cardiomyocyte integrity by binding and processing the mRNA of essential cardiac constituents such as titin. |
| Keywords: | Splicing, Titin, DCM, KHDRBS3, SLM2 |
| Source: | Genomics Proteomics & Bioinformatics |
| ISSN: | 1672-0229 |
| Publisher: | Elsevier |
| Volume: | 20 |
| Number: | 1 |
| Page Range: | 129-146 |
| Date: | February 2022 |
| Official Publication: | https://doi.org/10.1016/j.gpb.2021.01.006 |
| PubMed: | View item in PubMed |
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