{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"bioRxiv"}],"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T23:45:30Z","timestamp":1773099930276,"version":"3.50.1"},"posted":{"date-parts":[[2023,6,5]]},"group-title":"Bioinformatics","reference-count":20,"publisher":"openRxiv","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2023,6,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                <jats:p>\n                  Despite the recent technological advances in single-cell RNA sequencing, it is still unknown how three marker genes (\n                  <jats:italic>SPTBN1<\/jats:italic>\n                  ,\n                  <jats:italic>EPDR1<\/jats:italic>\n                  , and\n                  <jats:italic>PKDCC<\/jats:italic>\n                  ), which are associated with bone fractures and highly expressed in the muscle tissue, are contributing to the development of other tissues and organs at the cellular level. This study aims to analyze three marker genes at the single-cell level using 15 organ tissue types of adult human cell atlas (AHCA). The single-cell RNA sequencing analysis used three marker genes and a publicly available AHCA data set. AHCA data set contains more than 84,000 cells from 15 organ tissue types. Quality control filtering, dimensionality reduction, clustering for cells, and data visualization were performed using the Seurat package. A total of 15 organ types are included in the downloaded data sets: Bladder, Blood, Common Bile Duct, Esophagus, Heart, Liver, Lymph Node, Marrow, Muscle, Rectum, Skin, Small Intestine, Spleen, Stomach, and Trachea. In total, 84,363 cells and 228,508 genes were included in the integrated analysis. A marker gene of\n                  <jats:italic>SPTBN1<\/jats:italic>\n                  is highly expressed across all 15 organ types, particularly in the Fibroblasts, Smooth muscle cells, and Tissue stem cells of the Bladder, Esophagus, Heart, Muscle, Rectum, Skin, and Trachea. In contrast,\n                  <jats:italic>EPDR1<\/jats:italic>\n                  is highly expressed in the Muscle, Heart, and Trachea, and\n                  <jats:italic>PKDCC<\/jats:italic>\n                  is only expressed in Heart. In conclusion,\n                  <jats:italic>SPTBN1<\/jats:italic>\n                  is an essential protein gene in physiological development and plays a critical role in the high expression of fibroblasts in multiple organ types. Targeting\n                  <jats:italic>SPTBN1<\/jats:italic>\n                  may prove beneficial for fracture healing and drug discovery.\n                <\/jats:p>\n                <jats:sec>\n                  <jats:title>Author Summary<\/jats:title>\n                  <jats:p>\n                    Three marker genes (\n                    <jats:italic>SPTBN1<\/jats:italic>\n                    ,\n                    <jats:italic>EPDR1<\/jats:italic>\n                    , and\n                    <jats:italic>PKDCC<\/jats:italic>\n                    ) are playing a critical role in the shared genetic mechanisms between bone and muscle. However, how these marker genes contribute to developing other tissues and organs at the cellular level is unknown. Here, we build on prior work to study an unappreciated degree of heterogeneity of three marker genes in 15 adult human organs by using single-cell RNA sequencing technology. Our analysis included 15 organ types: Bladder, Blood, Common Bile Duct, Esophagus, Heart, Liver, Lymph Node, Marrow, Muscle, Rectum, Skin, Small Intestine, Spleen, Stomach, and Trachea. In total, 84,363 cells from 15 different organ types were included. In all 15 organ types,\n                    <jats:italic>SPTBN1<\/jats:italic>\n                    is highly expressed, including fibroblasts, smooth muscle cells, and skin stem cells of the bladder, esophagus, heart, muscles, and rectum. The first-time discovery of the high expression of\n                    <jats:italic>SPTBN1<\/jats:italic>\n                    in 15 organ types suggests that it may play a critical role in physiological development. Our study concludes that targeting\n                    <jats:italic>SPTBN1<\/jats:italic>\n                    may benefit fracture healing and drug discovery.\n                  <\/jats:p>\n                <\/jats:sec>","DOI":"10.1101\/2023.06.01.543198","type":"posted-content","created":{"date-parts":[[2023,6,5]],"date-time":"2023-06-05T11:35:12Z","timestamp":1685964912000},"source":"Crossref","is-referenced-by-count":3,"title":["Revealing the Organ-Specific Expression of\n                  <i>SPTBN1<\/i>\n                  using Single-Cell RNA Sequencing Analysis"],"prefix":"10.64898","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9258-5397","authenticated-orcid":false,"given":"Jongyun","family":"Jung","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4679-8903","authenticated-orcid":false,"given":"Qing","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"54368","reference":[{"key":"2023060810501073000_2023.06.01.543198v1.1","doi-asserted-by":"publisher","DOI":"10.1016\/S2666-7568(21)00172-0"},{"key":"2023060810501073000_2023.06.01.543198v1.2","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.165.16.1825"},{"key":"2023060810501073000_2023.06.01.543198v1.3","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-018-0302-x"},{"key":"2023060810501073000_2023.06.01.543198v1.4","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.080218"},{"key":"2023060810501073000_2023.06.01.543198v1.5","doi-asserted-by":"publisher","DOI":"10.1038\/s41581-018-0021-7"},{"key":"2023060810501073000_2023.06.01.543198v1.6","doi-asserted-by":"crossref","unstructured":"He S , Wang L-H , Liu Y , Li Y-Q , Chen H-T , Xu J-H , et al. Single-cell transcriptome profiling of an adult human cell atlas of 15 major organs. Genome Biol. 2020;21:294.","DOI":"10.1186\/s13059-020-02210-0"},{"key":"2023060810501073000_2023.06.01.543198v1.7","doi-asserted-by":"crossref","unstructured":"Jung J , Wu Q. Shared Genetic Architecture between Muscle and Bone: Identification and Functional Implications of EPDR1, PKDCC, and SPTBN1 [Internet]. bioRxiv; 2023 [cited 2023 May 16]. p. 2023.05.14.540743. Available from: https:\/\/www.biorxiv.org\/content\/10.1101\/2023.05.14.540743v1","DOI":"10.1101\/2023.05.14.540743"},{"key":"2023060810501073000_2023.06.01.543198v1.8","doi-asserted-by":"crossref","first-page":"32","DOI":"10.7150\/ijbs.52375","article-title":"\u03b2II spectrin (SPTBN1): biological function and clinical potential in cancer and other diseases","volume":"17","year":"2021","journal-title":"Int J Biol Sci"},{"key":"2023060810501073000_2023.06.01.543198v1.9","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1038\/s41588-021-00886-z","article-title":"Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome","volume":"53","year":"2021","journal-title":"Nat Genet"},{"key":"2023060810501073000_2023.06.01.543198v1.10","doi-asserted-by":"crossref","unstructured":"Xu X , Yang J , Ye Y , Chen G , Zhang Y , Wu H , et al. 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