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We investigated the functional effects of <jats:italic>SF3B1<\/jats:italic> disruption in myeloid cell lines: <jats:italic>SF3B1<\/jats:italic> knockdown resulted in growth inhibition, cell cycle arrest and impaired erythroid differentiation and deregulation of many genes and pathways, including cell cycle regulation and RNA processing. MDS is a disorder of the hematopoietic stem cell and we thus studied the transcriptome of CD34<jats:sup>+<\/jats:sup> cells from MDS patients with <jats:italic>SF3B1<\/jats:italic> mutations using RNA sequencing. Genes significantly differentially expressed at the transcript and\/or exon level in <jats:italic>SF3B1<\/jats:italic> mutant compared with wild-type cases include genes that are involved in MDS pathogenesis (<jats:italic>ASXL1<\/jats:italic> and <jats:italic>CBL<\/jats:italic>), iron homeostasis and mitochondrial metabolism (<jats:italic>ALAS2, ABCB7<\/jats:italic> and <jats:italic>SLC25A37<\/jats:italic>) and RNA splicing\/processing (<jats:italic>PRPF8<\/jats:italic> and <jats:italic>HNRNPD<\/jats:italic>). Many genes regulated by a DNA damage-induced BRCA1\u2013BCLAF1\u2013SF3B1 protein complex showed differential expression\/splicing in <jats:italic>SF3B1<\/jats:italic> mutant cases. This is the first study to determine the target genes of <jats:italic>SF3B1<\/jats:italic> mutation in MDS CD34<jats:sup>+<\/jats:sup> cells. Our data indicate that SF3B1 has a critical role in MDS by affecting the expression and splicing of genes involved in specific cellular processes\/pathways, many of which are relevant to the known RARS pathophysiology, suggesting a causal link.<\/jats:p>","DOI":"10.1038\/leu.2014.331","type":"journal-article","created":{"date-parts":[[2014,11,27]],"date-time":"2014-11-27T07:35:43Z","timestamp":1417073743000},"page":"1092-1103","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":154,"title":["Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cells"],"prefix":"10.1038","volume":"29","author":[{"given":"H","family":"Dolatshad","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Pellagatti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3458-9231","authenticated-orcid":false,"given":"M","family":"Fernandez-Mercado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B H","family":"Yip","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Malcovati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Attwood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Przychodzen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Sahgal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A A","family":"Kanapin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Lockstone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Scifo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Vandenberghe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Papaemmanuil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C W J","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P J","family":"Campbell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Ogawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J P","family":"Maciejewski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Cazzola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K I","family":"Savage","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Boultwood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,11,27]]},"reference":[{"key":"BFleu2014331_CR1","doi-asserted-by":"publisher","first-page":"1649","DOI":"10.1056\/NEJM199905273402107","volume":"340","author":"ML Heaney","year":"1999","unstructured":"Heaney ML, Golde DW . 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