{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T02:10:05Z","timestamp":1776046205726,"version":"3.50.1"},"reference-count":72,"publisher":"Oxford University Press (OUP)","issue":"13","license":[{"start":{"date-parts":[[2022,1,31]],"date-time":"2022-01-31T00:00:00Z","timestamp":1643587200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,7,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Bloom syndrome (BS) is an autosomal recessive disease clinically characterized by primary microcephaly, growth deficiency, immunodeficiency and predisposition to cancer. It is mainly caused by biallelic loss-of-function mutations in the BLM gene, which encodes the BLM helicase, acting in DNA replication and repair processes. Here, we describe the gene expression profiles of three BS fibroblast cell lines harboring causative, biallelic truncating mutations obtained by single-cell (sc) transcriptome analysis. We compared the scRNA transcription profiles from three BS patient cell lines to two age-matched wild-type controls and observed specific deregulation of gene sets related to the molecular processes characteristically affected in BS, such as mitosis, chromosome segregation, cell cycle regulation and genomic instability. We also found specific upregulation of genes of the Fanconi anemia pathway, in particular FANCM, FANCD2 and FANCI, which encode known interaction partners of BLM. The significant deregulation of genes associated with inherited forms of primary microcephaly observed in our study might explain in part the molecular pathogenesis of microcephaly in BS, one of the main clinical characteristics in patients. Finally, our data provide first evidence of a novel link between BLM dysfunction and transcriptional changes in condensin complex I and II genes. Overall, our study provides novel insights into gene expression profiles in BS on an sc level, linking specific genes and pathways to BLM dysfunction.<\/jats:p>","DOI":"10.1093\/hmg\/ddab373","type":"journal-article","created":{"date-parts":[[2022,1,24]],"date-time":"2022-01-24T15:12:57Z","timestamp":1643037177000},"page":"2185-2193","source":"Crossref","is-referenced-by-count":4,"title":["Single-cell transcription profiles in Bloom syndrome patients link\n                    <i>BLM<\/i>\n                    deficiency with altered condensin complex expression signatures"],"prefix":"10.1093","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7583-0872","authenticated-orcid":false,"given":"Ipek Ilgin","family":"G\u00f6nenc","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, University Medical Center G\u00f6ttingen , 37073 G\u00f6ttingen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"Wolff","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center G\u00f6ttingen , 37073 G\u00f6ttingen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Schmidt","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center G\u00f6ttingen , 37073 G\u00f6ttingen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arne","family":"Zibat","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center G\u00f6ttingen , 37073 G\u00f6ttingen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center G\u00f6ttingen , 37073 G\u00f6ttingen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lukas","family":"Cyganek","sequence":"additional","affiliation":[{"name":"Stem Cell Unit , Clinic for Cardiology and Pneumology, , 37075 G\u00f6ttingen, Germany"},{"name":"University Medical Center G\u00f6ttingen , Clinic for Cardiology and Pneumology, , 37075 G\u00f6ttingen, Germany"},{"name":"German Center for Cardiovascular Research (DZHK), Partner Site G\u00f6ttingen , 37075 G\u00f6ttingen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Loukas","family":"Argyriou","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center G\u00f6ttingen , 37073 G\u00f6ttingen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Markus","family":"R\u00e4schle","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, Technical University of Kaiserslautern , 67663 Kaiserslautern, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00f6khan","family":"Yigit","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center G\u00f6ttingen , 37073 G\u00f6ttingen, Germany"},{"name":"German Center for Cardiovascular Research (DZHK), Partner Site G\u00f6ttingen , 37075 G\u00f6ttingen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernd","family":"Wollnik","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center G\u00f6ttingen , 37073 G\u00f6ttingen, Germany"},{"name":"German Center for Cardiovascular Research (DZHK), Partner Site G\u00f6ttingen , 37075 G\u00f6ttingen, Germany"},{"name":"Cluster of Excellence \"Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells\" (MBExC), University of G\u00f6ttingen , 37073 G\u00f6ttingen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2022,1,31]]},"reference":[{"key":"2022070719565143900_ref1","first-page":"754","article-title":"Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs, probably a syndrome entity","volume":"88","author":"Bloom","year":"1954","journal-title":"A.M.A. Am. J. Dis. Child."},{"key":"2022070719565143900_ref2","first-page":"196","article-title":"Bloom\u2019s syndrome. I. Genetical and clinical observations in the first twenty-seven patients","volume":"21","author":"German","year":"1969","journal-title":"Am. J. Hum. Genet."},{"key":"2022070719565143900_ref3","first-page":"393","article-title":"Bloom syndrome, a mendelian prototype of somatic mutational disease","volume":"72","author":"German","year":"1993","journal-title":"Med. (United States)"},{"key":"2022070719565143900_ref4","doi-asserted-by":"crossref","first-page":"6669","DOI":"10.1073\/pnas.91.14.6669","article-title":"Bloom syndrome, an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1","volume":"91","author":"German","year":"1994","journal-title":"Proc. Natl. Acad. Sci."},{"key":"2022070719565143900_ref5","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1002\/humu.20501","article-title":"Syndrome-causing mutations of the BLM gene in persons in the Bloom\u2019s syndrome registry","volume":"28","author":"German","year":"2007","journal-title":"Hum. Mutat."},{"key":"2022070719565143900_ref6","doi-asserted-by":"crossref","first-page":"30611","DOI":"10.1074\/jbc.272.49.30611","article-title":"The Bloom\u2019s syndrome gene product is a 3\u2019-5\u2019 DNA helicase","volume":"272","author":"Karow","year":"1997","journal-title":"J. Biol. Chem."},{"key":"2022070719565143900_ref7","doi-asserted-by":"crossref","first-page":"13861","DOI":"10.1074\/jbc.C600051200","article-title":"A double Holliday junction dissolvasome comprising BLM, topoisomerase III\u03b1, and BLAP75","volume":"281","author":"Raynard","year":"2006","journal-title":"J. Biol. Chem."},{"key":"2022070719565143900_ref8","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1038\/sj.emboj.7600622","article-title":"BLAP75, an essential component of Bloom\u2019s syndrome protein complexes that maintain genome integrity","volume":"24","author":"Yin","year":"2005","journal-title":"EMBO J."},{"key":"2022070719565143900_ref9","doi-asserted-by":"crossref","first-page":"2856","DOI":"10.1101\/gad.1725108","article-title":"BLAP18\/RMI2, a novel OB-fold-containing protein, is an essential component of the Bloom helicase-double Holliday junction dissolvasome","volume":"22","author":"Singh","year":"2008","journal-title":"Genes Dev."},{"key":"2022070719565143900_ref10","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/j.ajhg.2018.07.001","article-title":"Mutations in TOP3A cause a Bloom syndrome-like disorder","volume":"103","author":"Martin","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"2022070719565143900_ref11","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1371\/journal.pgen.1006483","article-title":"Loss of RMI2 increases genome instability and causes a Bloom-like syndrome","volume":"12","author":"Hudson","year":"2016","journal-title":"PLoS Genet."},{"key":"2022070719565143900_ref12","doi-asserted-by":"crossref","first-page":"4067","DOI":"10.1007\/s00018-013-1325-1","article-title":"The BLM dissolvasome in DNA replication and repair","volume":"70","author":"Manthei","year":"2013","journal-title":"Cell. Mol. Life Sci."},{"key":"2022070719565143900_ref13","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1038\/nature02253","article-title":"The Bloom\u2019s syndrome helicase suppresses crossing over during homologous recombination","volume":"426","author":"Wu","year":"2003","journal-title":"Nature"},{"key":"2022070719565143900_ref14","doi-asserted-by":"crossref","first-page":"11118","DOI":"10.1073\/pnas.0604873103","article-title":"Topoisomerase III alpha and Bloom\u2019s helicase can resolve a mobile double Holliday junction substrate through convergent branch migration","volume":"103","author":"Plank","year":"2006","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2022070719565143900_ref15","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.str.2020.11.020","article-title":"A structural guide to the Bloom syndrome complex","volume":"29","author":"Bythell-Douglas","year":"2021","journal-title":"Structure"},{"key":"2022070719565143900_ref16","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1007\/978-1-4614-5037-5_8","volume-title":"RecQ Helicases, Conserved Guardians of Genomic Integrity BT - DNA Helicases and DNA Motor Proteins","author":"Larsen","year":"2013"},{"key":"2022070719565143900_ref17","doi-asserted-by":"crossref","first-page":"11083","DOI":"10.1093\/nar\/gku803","article-title":"Multifaceted role of the Topo III\u03b1\u2013RMI1-RMI2 complex and DNA2 in the BLM-dependent pathway of DNA break end resection","volume":"42","author":"Daley","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"2022070719565143900_ref18","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1038\/s41556-017-0011-1","article-title":"Unresolved recombination intermediates lead to ultra-fine anaphase bridges, chromosome breaks and aberrations","volume":"20","author":"Chan","year":"2018","journal-title":"Nat. Cell Biol."},{"key":"2022070719565143900_ref19","doi-asserted-by":"crossref","first-page":"9905","DOI":"10.1073\/pnas.1404807111","article-title":"Regulation of gene expression by the BLM helicase correlates with the presence of G-quadruplex DNA motifs","volume":"111","author":"Nguyen","year":"2014","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2022070719565143900_ref20","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1084\/jem.20181329","article-title":"Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS","volume":"216","author":"Gratia","year":"2019","journal-title":"J. Exp. Med."},{"key":"2022070719565143900_ref21","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/mgg3.1133","article-title":"Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom\u2019s syndrome cases","volume":"8","author":"Montenegro","year":"2020","journal-title":"Mol. Genet. Genomic Med."},{"key":"2022070719565143900_ref22","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1186\/s12864-017-3893-1","article-title":"Massively parallel nanowell-based single-cell gene expression profiling","volume":"18","author":"Goldstein","year":"2017","journal-title":"BMC Genomics"},{"key":"2022070719565143900_ref23","doi-asserted-by":"crossref","first-page":"861","DOI":"10.21105\/joss.00861","article-title":"UMAP, uniform manifold approximation and projection","volume":"3","author":"McInnes","year":"2018","journal-title":"J. Open Source Softw."},{"key":"2022070719565143900_ref24","author":"McInnes","year":"2018"},{"key":"2022070719565143900_ref25","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1159\/000452082","article-title":"Bloom\u2019s syndrome, clinical Spectrum, molecular pathogenesis, and cancer predisposition","volume":"8","author":"Cunniff","year":"2017","journal-title":"Mol. 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