{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:53:25Z","timestamp":1790834005340,"version":"4.1.0"},"reference-count":55,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T00:00:00Z","timestamp":1706745600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T00:00:00Z","timestamp":1706745600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,12,24]],"date-time":"2023-12-24T00:00:00Z","timestamp":1703376000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000855","name":"University of Birmingham","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000855","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["DNA Repair"],"published-print":{"date-parts":[[2024,2]]},"DOI":"10.1016\/j.dnarep.2023.103616","type":"journal-article","created":{"date-parts":[[2023,12,23]],"date-time":"2023-12-23T11:59:36Z","timestamp":1703332776000},"page":"103616","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"special_numbering":"C","title":["DONSON: Slding in 2 the limelight"],"prefix":"10.1016","volume":"134","author":[{"given":"Grant S.","family":"Stewart","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.dnarep.2023.103616_bib1","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1038\/s41431-023-01359-z","article-title":"The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome","volume":"31","author":"Nielsen-Dandoroff","year":"2023","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.dnarep.2023.103616_bib2","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1016\/j.cub.2005.02.063","article-title":"humpty dumpty is required for developmental DNA amplification and cell proliferation in Drosophila","volume":"15","author":"Bandura","year":"2005","journal-title":"Curr. Biol."},{"key":"10.1016\/j.dnarep.2023.103616_bib3","doi-asserted-by":"crossref","DOI":"10.1038\/msb.2010.25","article-title":"Clustering phenotype populations by genome-wide RNAi and multiparametric imaging","volume":"6","author":"Fuchs","year":"2010","journal-title":"Mol. Syst. Biol."},{"key":"10.1016\/j.dnarep.2023.103616_bib4","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1038\/ng.3790","article-title":"Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism","volume":"49","author":"Reynolds","year":"2017","journal-title":"Nat. Genet."},{"key":"10.1016\/j.dnarep.2023.103616_bib5","doi-asserted-by":"crossref","first-page":"1323","DOI":"10.1101\/gr.219899.116","article-title":"Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome","volume":"28","author":"Evrony","year":"2017","journal-title":"Genome Res."},{"key":"10.1016\/j.dnarep.2023.103616_bib6","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1038\/s41431-018-0128-0","article-title":"Microcephaly, short stature and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings","volume":"26","author":"Schulz","year":"2018","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.dnarep.2023.103616_bib7","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1159\/000497337","article-title":"Further delineation of the Microcephaly-Micromelia Syndrome associated with loss-of-function mutations in DONSON","volume":"10","author":"Abdelrahman","year":"2019","journal-title":"Mol. Syndromol."},{"key":"10.1016\/j.dnarep.2023.103616_bib8","doi-asserted-by":"crossref","first-page":"2056","DOI":"10.1002\/ajmg.a.61315","article-title":"Biallelic and de novo variants in DONSON reveal a clinical spectrum of cell cycle-opathies with microcephaly, dwarfism and skeletal abnormalities","volume":"179","author":"Karaca","year":"2019","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.dnarep.2023.103616_bib9","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1136\/jmedgenet-2019-106396","article-title":"Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin Syndrome","volume":"57","author":"Knapp","year":"2020","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.dnarep.2023.103616_bib10","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1009441","article-title":"The microcephaly gene Donson is essential for progenitors of cortical glutamatergic and GABAergic neurons","volume":"17","author":"Venkataramanappa","year":"2021","journal-title":"PLOS Genet"},{"key":"10.1016\/j.dnarep.2023.103616_bib11","article-title":"DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain","volume":"11","author":"Zhang","year":"2020","journal-title":"Nat. Commun."},{"key":"10.1016\/j.dnarep.2023.103616_bib12","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/j.molcel.2007.11.032","article-title":"The Fanconi anemia protein FANCM can promote branch migration of Holliday junctions and replication forks","volume":"29","author":"Gari","year":"2008","journal-title":"Mol. Cell."},{"key":"10.1016\/j.dnarep.2023.103616_bib13","doi-asserted-by":"crossref","first-page":"16107","DOI":"10.1073\/pnas.0804777105","article-title":"Remodelling of DNA structures by the branch point translocase FANCM","volume":"105","author":"Gari","year":"2008","journal-title":"Proc. Natl. Acad. Sci."},{"key":"10.1016\/j.dnarep.2023.103616_bib14","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1016\/j.molcel.2013.09.021","article-title":"The DNA translocase FANCM\/MHF promotes replication traverse of DNA interstrand crosslinks","volume":"52","author":"Huang","year":"2013","journal-title":"Mol. Cell."},{"key":"10.1016\/j.dnarep.2023.103616_bib15","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1038\/s41580-020-0257-5","article-title":"The plasticity of DNA replication forks in response to clinically relevant genotoxic stress","volume":"21","author":"Berti","year":"2020","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.dnarep.2023.103616_bib16","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1007\/s00412-014-0500-y","article-title":"Evolutionary conservation of the CDK targets in eukaryotic DNA replication initiation","volume":"124","author":"Zegerman","year":"2015","journal-title":"Chromosoma"},{"key":"10.1016\/j.dnarep.2023.103616_bib17","doi-asserted-by":"crossref","first-page":"11521","DOI":"10.1073\/pnas.0604990103","article-title":"CDC7 kinase phosphorylates serine residues adjacent to acidic amino acids in the minichromosome maintenance 2 protein","volume":"103","author":"Cho","year":"2006","journal-title":"Proc. Natl. Acad. Sci."},{"key":"10.1016\/j.dnarep.2023.103616_bib18","doi-asserted-by":"crossref","first-page":"39249","DOI":"10.1074\/jbc.M608935200","article-title":"Phosphorylation of MCM4 by Cdc7 kinase facilitates its interaction with Cdc45 on the chromatin","volume":"281","author":"Masai","year":"2006","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.dnarep.2023.103616_bib19","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.molcel.2006.07.033","article-title":"Cdc7-Dbf4 phosphorylates MCM proteins via a docking site-mediated mechanism to promote S phase progression","volume":"24","author":"Sheu","year":"2006","journal-title":"Mol. Cell."},{"key":"10.1016\/j.dnarep.2023.103616_bib20","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1038\/nature08647","article-title":"The Dbf4-Cdc7 kinase promotes S phase by alleviating an inhibitory activity in Mcm4","volume":"463","author":"Sheu","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.dnarep.2023.103616_bib21","doi-asserted-by":"crossref","first-page":"4459","DOI":"10.1091\/mbc.e06-03-0241","article-title":"Essential role of phosphorylation of MCM2 by Cdc7\/Dbf4 in the initiation of DNA replication in mammalian cells","volume":"17","author":"Tsuji","year":"2006","journal-title":"Mol. Biol. Cell."},{"key":"10.1016\/j.dnarep.2023.103616_bib22","doi-asserted-by":"crossref","first-page":"14926","DOI":"10.1074\/jbc.M112.392910","article-title":"Dbf4 and Cdc7 proteins promote DNA replication through interactions with distinct Mcm2-7 protein subunits","volume":"288","author":"Ramer","year":"2013","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.dnarep.2023.103616_bib23","doi-asserted-by":"crossref","first-page":"961","DOI":"10.15252\/embj.201593552","article-title":"Phosphopeptide binding by Sld3 links Dbf4-dependent kinase to MCM replicative helicase activation","volume":"35","author":"Deegan","year":"2016","journal-title":"EMBO J."},{"key":"10.1016\/j.dnarep.2023.103616_bib24","doi-asserted-by":"crossref","first-page":"885","DOI":"10.3389\/fmicb.2016.00885","article-title":"Sld3-MCM interaction facilitated by Dbf4-dependent kinase defines an essential step in eukaryotic DNA replication initiation","volume":"7","author":"Fang","year":"2016","journal-title":"Front. Microbiol."},{"key":"10.1016\/j.dnarep.2023.103616_bib25","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1101\/gad.1883410","article-title":"CDK-dependent complex formation between replication proteins Dpb11, Sld2, Pole, and GINS in budding yeast","volume":"24","author":"Muramatsu","year":"2010","journal-title":"Genes Dev."},{"key":"10.1016\/j.dnarep.2023.103616_bib26","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.cell.2011.06.012","article-title":"Eukaryotic origin-dependent DNA replication in vitro reveals sequential action of DDK and S-CDK kinases","volume":"146","author":"Heller","year":"2011","journal-title":"Cell"},{"key":"10.1016\/j.dnarep.2023.103616_bib27","doi-asserted-by":"crossref","first-page":"2614","DOI":"10.1128\/MCB.00431-13","article-title":"Efficient initiation of DNA replication in eukaryotes requires Dpb11\/ TopBP1-GINS interaction","volume":"33","author":"Tanaka","year":"2013","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.dnarep.2023.103616_bib28","doi-asserted-by":"crossref","first-page":"2195","DOI":"10.1038\/emboj.2012.69","article-title":"Mcm10 associates with the loaded DNA helicase at replication origins and defines a novel step in its activation","volume":"31","author":"van Deursen","year":"2012","journal-title":"EMBO J."},{"key":"10.1016\/j.dnarep.2023.103616_bib29","doi-asserted-by":"crossref","first-page":"5879","DOI":"10.1074\/jbc.M115.707802","article-title":"Recruitment of Mcm10 to sites of replication initiation requires direct binding to the Minichromosome maintenance (MCM) complex","volume":"291","author":"Douglas","year":"2016","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.dnarep.2023.103616_bib30","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1083\/jcb.200207090","article-title":"The Xenopus Xmus101 protein is required for the recruitment of Cdc45 to origins of DNA replication","volume":"159","author":"Van Hatten","year":"2002","journal-title":"J. Cell. Biol."},{"key":"10.1016\/j.dnarep.2023.103616_bib31","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/j.cell.2009.12.049","article-title":"Treslin collaborates with TopBP1 in triggering the initiation of DNA replication","volume":"140","author":"Kumagai","year":"2010","journal-title":"Cell"},{"key":"10.1016\/j.dnarep.2023.103616_bib32","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1101\/gad.1860310","article-title":"A vertebrate gene, ticrr, is an essential checkpoint and replication regulator","volume":"24","author":"Sansam","year":"2010","journal-title":"Genes Dev."},{"key":"10.1016\/j.dnarep.2023.103616_bib33","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1126\/science.1237448","article-title":"Identification of a heteromeric complex that promotes DNA replication origin firing in human cells","volume":"340","author":"Boos","year":"2013","journal-title":"Science"},{"key":"10.1016\/j.dnarep.2023.103616_bib34","doi-asserted-by":"crossref","first-page":"2526","DOI":"10.1093\/emboj\/cdg238","article-title":"Xenopus Cut5 is essential for a CDK-dependent process in the initiation of DNA replication","volume":"22","author":"Hashimoto","year":"2003","journal-title":"EMBO J."},{"key":"10.1016\/j.dnarep.2023.103616_bib35","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1101\/gad.1070003","article-title":"A novel ring-like complex of Xenopus proteins essential for the initiation of DNA replication","volume":"17","author":"Kubota","year":"2003","journal-title":"Genes Dev."},{"key":"10.1016\/j.dnarep.2023.103616_bib36","doi-asserted-by":"crossref","first-page":"2998","DOI":"10.1091\/mbc.e17-07-0448","article-title":"MTBP, the partner of Treslin, contains a novel DNA-binding domain that is essential for proper initiation of DNA replication","volume":"28","author":"Kumagai","year":"2017","journal-title":"Mol. Biol. Cell."},{"key":"10.1016\/j.dnarep.2023.103616_bib37","doi-asserted-by":"crossref","DOI":"10.1098\/rsob.210121","article-title":"The role of DDK and Treslin-MTBP in coordinating replication licensing and pre-initiation complex formation","volume":"11","author":"Volpi","year":"2021","journal-title":"Open Biol."},{"key":"10.1016\/j.dnarep.2023.103616_bib38","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1083\/jcb.201102003","article-title":"Direct regulation of Treslin by cyclin-dependent kinase is essential for the onset of DNA replication","volume":"193","author":"Kumagai","year":"2011","journal-title":"J. Cell. Biol."},{"key":"10.1016\/j.dnarep.2023.103616_bib39","doi-asserted-by":"crossref","first-page":"1341","DOI":"10.1016\/j.str.2014.07.001","article-title":"Crystal structure of the homology domain of the eukaryotic DNA replication proteins Sld3\/Treslin","volume":"22","author":"Itou","year":"2014","journal-title":"Structure"},{"key":"10.1016\/j.dnarep.2023.103616_bib40","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1016\/j.bbamcr.2011.01.001","article-title":"The N-terminal region of RECQL4 lacking the helicase domain is both essential and sufficient for the viability of vertebrate cells: role of the N-terminal region of RECQL4 in cells","volume":"1813","author":"Abe","year":"2011","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.dnarep.2023.103616_bib41","doi-asserted-by":"crossref","DOI":"10.3389\/fmolb.2021.791194","article-title":"Molecular mechanisms of the RECQ4 pathogenic mutations","volume":"8","author":"Xu","year":"2021","journal-title":"Front. Mol. Biosci."},{"key":"10.1016\/j.dnarep.2023.103616_bib42","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1016\/j.cell.2005.05.015","article-title":"Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome","volume":"121","author":"Sangrithi","year":"2005","journal-title":"Cell"},{"key":"10.1016\/j.dnarep.2023.103616_bib43","doi-asserted-by":"crossref","first-page":"4843","DOI":"10.1128\/MCB.02267-05","article-title":"The N-terminal noncatalytic region of Xenopus RecQ4 is required for chromatin binding of DNA polymerase alpha in the initiation of DNA replication","volume":"26","author":"Matsuno","year":"2006","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.dnarep.2023.103616_bib44","doi-asserted-by":"crossref","DOI":"10.15252\/embj.2023114131","article-title":"Novel role of DONSON in CMG helicase assembly during vertebrate DNA replication initiation","volume":"42","author":"Hashimoto","year":"2023","journal-title":"EMBO J."},{"key":"10.1016\/j.dnarep.2023.103616_bib45","doi-asserted-by":"crossref","DOI":"10.1126\/science.adi3448","article-title":"In silico protein interaction screening uncovers DONSON\u2019s role in replication initiation","volume":"381","author":"Lim","year":"2023","journal-title":"Science"},{"key":"10.1016\/j.dnarep.2023.103616_bib46","doi-asserted-by":"crossref","DOI":"10.1126\/science.adi4932","article-title":"DNSN-1 recruits GINS for CMG assembly during DNA replication initiation in Caenorhabditis elegans","volume":"381","author":"Xia","year":"2023","journal-title":"Science"},{"key":"10.1016\/j.dnarep.2023.103616_bib47","doi-asserted-by":"crossref","first-page":"9748","DOI":"10.1093\/nar\/gkad694","article-title":"DONSON facilitates Cdc45 and GINS chromatin association and is essential for DNA replication initiation","volume":"51","author":"Kingsley","year":"2023","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.dnarep.2023.103616_bib48","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1038\/nature14285","article-title":"Regulated eukaryotic DNA replication origin firing with purified proteins","volume":"519","author":"Yeeles","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.dnarep.2023.103616_bib49","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.65471","article-title":"DDK regulates replication initiation by controlling the multiplicity of Cdc45-GINS binding to Mcm2-7","volume":"10","author":"De Jes\u00fas-Kim","year":"2021","journal-title":"eLife"},{"key":"10.1016\/j.dnarep.2023.103616_bib50","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.ajhg.2016.05.019","article-title":"Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis","volume":"99","author":"Fenwick","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.dnarep.2023.103616_bib51","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1136\/jmedgenet-2020-107572","article-title":"Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis","volume":"59","author":"Nabais S\u00e1","year":"2022","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.dnarep.2023.103616_bib52","doi-asserted-by":"crossref","first-page":"2323","DOI":"10.1084\/jem.20121303","article-title":"Polymerase \u03b51 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo and short stature (\u201cFILS\u201d syndrome)","volume":"209","author":"Pachlopnik Schmid","year":"2012","journal-title":"J. Exp. Med"},{"key":"10.1016\/j.dnarep.2023.103616_bib53","doi-asserted-by":"crossref","first-page":"1991","DOI":"10.1172\/JCI90727","article-title":"Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency","volume":"127","author":"Cottineau","year":"2017","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.dnarep.2023.103616_bib54","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1016\/j.ajhg.2018.10.024","article-title":"DNA polymerase epsilon deficiency causes IMAGe syndrome with variable immunodeficiency","volume":"103","author":"Logan","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.dnarep.2023.103616_bib55","doi-asserted-by":"crossref","DOI":"10.1016\/j.molcel.2023.09.029","article-title":"The structural mechanism of dimeric DONSON in replication helicase activation","author":"Cvetkovic","year":"2023","journal-title":"Mol. Cell."}],"container-title":["DNA Repair"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1568786423001702?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1568786423001702?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T20:53:49Z","timestamp":1761598429000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1568786423001702"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2]]},"references-count":55,"alternative-id":["S1568786423001702"],"URL":"https:\/\/doi.org\/10.1016\/j.dnarep.2023.103616","relation":{},"ISSN":["1568-7864"],"issn-type":[{"value":"1568-7864","type":"print"}],"subject":[],"published":{"date-parts":[[2024,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"DONSON: Slding in 2 the limelight","name":"articletitle","label":"Article Title"},{"value":"DNA Repair","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.dnarep.2023.103616","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Author. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"103616"}}