{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T19:21:08Z","timestamp":1792264868188,"version":"4.4.0"},"reference-count":98,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,5,13]],"date-time":"2022-05-13T00:00:00Z","timestamp":1652400000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>Single-cell RNA-seq (scRNA-seq) has revolutionized modern genomics, but the large size of myotubes and myofibers has restricted use of scRNA-seq in skeletal muscle. For the study of muscle, single-nucleus RNA-seq (snRNA-seq) has emerged not only as an alternative to scRNA-seq, but as a novel method providing valuable insights into multinucleated cells such as myofibers. Nuclei within myofibers specialize at junctions with other cell types such as motor neurons. Nuclear heterogeneity plays important roles in certain diseases such as muscular dystrophies. We survey current methods of high-throughput single cell and subcellular resolution transcriptomics, including single-cell and single-nucleus RNA-seq and spatial transcriptomics, applied to satellite cells, myoblasts, myotubes and myofibers. We summarize the major myonuclei subtypes identified in homeostatic and regenerating tissue including those specific to fiber type or at junctions with other cell types. Disease-specific nucleus populations were found in two muscular dystrophies, FSHD and Duchenne muscular dystrophy, demonstrating the importance of performing transcriptome studies at the single nucleus level in muscle.<\/jats:p>","DOI":"10.3389\/fgene.2022.835099","type":"journal-article","created":{"date-parts":[[2022,5,13]],"date-time":"2022-05-13T02:57:26Z","timestamp":1652410646000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":43,"title":["Heterogeneous Skeletal Muscle Cell and Nucleus Populations Identified by Single-Cell and Single-Nucleus Resolution Transcriptome Assays"],"prefix":"10.3389","volume":"13","author":[{"given":"Katherine","family":"Williams","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyoko","family":"Yokomori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Mortazavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,5,13]]},"reference":[{"key":"B1","volume-title":"What Is the Range of Compatible Cell Sizes?","year":"2018"},{"key":"B2","doi-asserted-by":"publisher","first-page":"e0209648","DOI":"10.1371\/journal.pone.0209648","article-title":"Single-nucleus and Single-Cell Transcriptomes Compared in Matched Cortical Cell Types","volume":"13","author":"Bakken","year":"2018","journal-title":"PLoS One"},{"key":"B3","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1038\/nature01573","article-title":"Defective Membrane Repair in Dysferlin-Deficient Muscular Dystrophy","volume":"423","author":"Bansal","year":"2003","journal-title":"Nature"},{"key":"B4","doi-asserted-by":"publisher","first-page":"e51576","DOI":"10.7554\/eLife.51576","article-title":"Functionally Heterogeneous Human Satellite Cells Identified by Single Cell RNA Sequencing","volume":"9","author":"Barruet","year":"2020","journal-title":"Elife"},{"key":"B5","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1038\/cdd.2011.87","article-title":"Transcription Factor TEAD4 Regulates Expression of Myogenin and the Unfolded Protein Response Genes during C2C12 Cell Differentiation","volume":"19","author":"Benhaddou","year":"2012","journal-title":"Cell Death Differ"},{"key":"B6","doi-asserted-by":"publisher","first-page":"1062","DOI":"10.1038\/embor.2013.182","article-title":"Cellular Dynamics in the Muscle Satellite Cell Niche","volume":"14","author":"Bentzinger","year":"2013","journal-title":"EMBO Rep."},{"key":"B7","doi-asserted-by":"publisher","first-page":"20097","DOI":"10.1074\/jbc.ra119.011506","article-title":"High-resolution Genome-wide Expression Analysis of Single Myofibers Using Smart-Seq","volume":"294","author":"Blackburn","year":"2019","journal-title":"J. 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