Distinct Transcript‐Level Expression Profiles and Unique Alternative Splicing in Inflammatory Myopathies.
Objective: The pathogenesis of inflammatory myopathies is poorly understood and there is a need to dissect the transcriptome in more granular ways beyond gene expression. Methods: We used a set of muscle RNA‐sequencing data from different myositis subtypes grouped by their specific autoantibodies (n...
| Publicado en: | ACR Open Rheumatology Vol. 6; no. 10; pp. 690 - 700 |
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| Autores principales: | , , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Wiley-Blackwell
Oct2024
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=180249869&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 180249869 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 25785745 LXGC jtl: ACR Open Rheumatology issn: 25785745 maglogo: N pubinfo: dt: Oct2024 vid: 6 iid: 10 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 180249869 178626007 180249869 180249869 10.1002/acr2.11724 180249869 ppf: 690 ppct: 10 formats: tig: atl: Distinct Transcript‐Level Expression Profiles and Unique Alternative Splicing in Inflammatory Myopathies. aug: au: Najjar, Rayan Alessi, Hugh Pinal‐Fernandez, Iago Mammen, Andrew L. Mustelin, Tomas affil: University of Washington, Seattle Washington sug: subj: Myositis Classification Myositis Familial and Genetic Gene Expression Evaluation RNA Analysis Muscle, Skeletal Sequence Analysis Human Dermatomyositis Myositis, Inclusion Body Confidence Intervals Funding Source Autoantibodies Biopsy Random Sample Descriptive Statistics ab: Objective: The pathogenesis of inflammatory myopathies is poorly understood and there is a need to dissect the transcriptome in more granular ways beyond gene expression. Methods: We used a set of muscle RNA‐sequencing data from different myositis subtypes grouped by their specific autoantibodies (n = 152). We quantified annotated RNA transcripts for each myositis subtype and identified uniquely expressed RNA as well as transcriptional similarities among myositis types. In addition, we quantified event‐based alternative splicing with predicted protein changes. And finally, we searched for cryptic exons. Results: We saw considerable overlap in RNA expression among subtypes. In addition, MADCAM1 was previously shown to be uniquely expressed in Mi‐2 myositis; we discovered it was two noncanonical transcripts that predominantly contributed to the observed increased expression. At the transcriptional level, dermatomyositis subtypes were least similar to inclusion body myositis (IBM) or Jo1, followed by HMGCR, then SRP and other dermatomyositis subtype. Additionally, we discovered many alternative splicing events that were unique by myositis subgroup, including events in muscle dystrophy genes and one event in SRP72, which was seen uniquely in SRP myositis. Finally, we looked for previously reported cryptic exons in IBM and did not find them. Conclusion: The large degree of transcriptional overlap among myositis subtypes reinforces the need to use disease (in addition to healthy) controls to find unique features of autoimmune disease. Unique alterations in the transcriptome that are seen in one myositis subtype and not others advance our understanding of distinct disease pathology. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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