{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T00:07:13Z","timestamp":1776730033482,"version":"3.51.2"},"reference-count":48,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,8,25]],"date-time":"2015-08-25T00:00:00Z","timestamp":1440460800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005010","name":"Associazione Italiana per la Ricerca sul Cancro","doi-asserted-by":"publisher","award":["IG\u201011512"],"award-info":[{"award-number":["IG\u201011512"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2015,11]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Germline mutations of the U6 biogenesis 1 (<jats:italic><jats:styled-content style=\"fixed-case\">USB<\/jats:styled-content>1<\/jats:italic>) gene underlie Poikiloderma with Neutropenia (<jats:styled-content style=\"fixed-case\">PN<\/jats:styled-content>), a rare autosomal recessive genodermatosis conferring an increased risk of myelodysplasia. Recent evidence highlights a key role of <jats:styled-content style=\"fixed-case\">USB<\/jats:styled-content>1 protein in the splicing process, but nothing is known about <jats:italic><jats:styled-content style=\"fixed-case\">USB<\/jats:styled-content>1<\/jats:italic> alterations in acquired myelodysplastic syndromes, even though mutations in the spliceosome machinery represent an ubiquitous pathway in leukaemogenesis. By molecular cytogenetics and direct sequencing, we searched for <jats:italic><jats:styled-content style=\"fixed-case\">USB<\/jats:styled-content>1<\/jats:italic> deletions\/duplications and point mutations in 141 bone marrow <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> samples from patients with myelodysplastic syndromes (n\u00a0=\u00a0126), myelodysplastic\/myeloproliferative neoplasms (n\u00a0=\u00a012) and acute myeloid leukaemia (n\u00a0=\u00a03). Three unreported variants, two in <jats:italic><jats:styled-content style=\"fixed-case\">USB<\/jats:styled-content>1<\/jats:italic> 5'<jats:styled-content style=\"fixed-case\">UTR<\/jats:styled-content> (c.\u201083G&gt;T and c.\u201066A&gt;G), one in <jats:styled-content style=\"fixed-case\">IVS<\/jats:styled-content>3 (c.450\u201068dupT) and one (&lt;1%) in <jats:styled-content style=\"fixed-case\">IVS<\/jats:styled-content>4 (c.587+21A&gt;G\/rs200924980) were detected. The germline nature could be proved for the c.\u201066A&gt;G, but remains undefined for c.\u201083G&gt;T and c.450\u201068dupT. Matched controls analysis did not reveal either 5' <jats:styled-content style=\"fixed-case\">UTR<\/jats:styled-content> variants in 290 chromosomes and Real\u2010time polymerase chain reaction showed a slight reduction in bone marrow <jats:styled-content style=\"fixed-case\">RNA<\/jats:styled-content> levels of the patient with c.\u201066A&gt;G. No <jats:italic><jats:styled-content style=\"fixed-case\">USB<\/jats:styled-content>1<\/jats:italic> rearrangements were detected by interphase fluorescence <jats:italic>in\u00a0situ<\/jats:italic> hybridization. This pilot investigation on <jats:italic><jats:styled-content style=\"fixed-case\">USB<\/jats:styled-content>1<\/jats:italic> expanded the variations repertoire of this gene, identifying three novel sequence variants, the role of which need further investigations in myeloid malignancies.<\/jats:p>","DOI":"10.1111\/bjh.13651","type":"journal-article","created":{"date-parts":[[2015,8,26]],"date-time":"2015-08-26T02:41:14Z","timestamp":1440556874000},"page":"557-565","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Expanding the role of the splicing <i><scp>USB<\/scp>1<\/i> gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms"],"prefix":"10.1111","volume":"171","author":[{"given":"Gloria","family":"Negri","sequence":"first","affiliation":[{"name":"Medical Genetics Department of Health Sciences University of Milan Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Crescenzi","sequence":"additional","affiliation":[{"name":"Haematology Unit Polo Unico S.M. Misericordia Perugia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa Adele","family":"Colombo","sequence":"additional","affiliation":[{"name":"Medical Genetics Department of Health Sciences University of Milan Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Fontana","sequence":"additional","affiliation":[{"name":"Medical Genetics Department of Health Sciences University of Milan Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianluca","family":"Barba","sequence":"additional","affiliation":[{"name":"Haematology Unit Polo Unico S.M. Misericordia Perugia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Arcioni","sequence":"additional","affiliation":[{"name":"Pediatric Oncology Haematology Unit University of Perugia Polo Unico S.M. Misericordia Perugia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Gervasini","sequence":"additional","affiliation":[{"name":"Medical Genetics Department of Health Sciences University of Milan Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Mecucci","sequence":"additional","affiliation":[{"name":"Haematology Unit Polo Unico S.M. 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