{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T18:15:00Z","timestamp":1791137700592,"version":"4.1.0"},"reference-count":52,"publisher":"Oxford University Press (OUP)","issue":"14","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,7,15]]},"DOI":"10.1093\/hmg\/ddn116","type":"journal-article","created":{"date-parts":[[2008,4,15]],"date-time":"2008-04-15T00:35:42Z","timestamp":1208219742000},"page":"2172-2180","source":"Crossref","is-referenced-by-count":106,"title":["The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity"],"prefix":"10.1093","volume":"17","author":[{"given":"Miriam","family":"Gordillo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugo","family":"Vega","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison H.","family":"Trainer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fajian","family":"Hou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norio","family":"Sakai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo","family":"Luque","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00fclya","family":"Kayserili","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seher","family":"Basaran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flemming","family":"Skovby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul C. M.","family":"Hennekam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria L. Giovannucci","family":"Uzielli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rhonda E.","family":"Schnur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Manouvrier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward","family":"Blair","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane A.","family":"Hurst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Forzano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moritz","family":"Meins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kalle O.J.","family":"Simola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annick","family":"Raas-Rothschild","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger A.","family":"Schultz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa D.","family":"McDaniel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiichi","family":"Ozono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koji","family":"Inui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Zou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ethylin Wang","family":"Jabs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2008,4,14]]},"reference":[{"key":"key\n\t\t\t\t20170522141623_DDN116C1","first-page":"252","article-title":"A child with double cleft lip and palate, protrusion of the intermaxillary portion of the upper jaw and imperfect development of the bones of the four extremities","volume":"70","author":"Roberts","year":"1919","journal-title":"Ann. Surg."},{"key":"key\n\t\t\t\t20170522141623_DDN116C2","first-page":"81","article-title":"A familial dysmorphogenetic syndrome of limb deformities, characteristic facial appearance and associated anomalies: the \u2018pseudothalidomide\u2019 or \u2018SC-syndrome","volume":"V","author":"Herrmann","year":"1969","journal-title":"Birth Defects Orig. Art. Ser."},{"key":"key\n\t\t\t\t20170522141623_DDN116C3","doi-asserted-by":"crossref","first-page":"1104","DOI":"10.1002\/ajmg.1320470735","article-title":"Roberts syndrome: a review of 100 cases and a new rating system for severity","volume":"47","author":"Van Den Berg","year":"1993","journal-title":"Am. J. Med. Genet."},{"key":"key\n\t\t\t\t20170522141623_DDN116C4","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1399-0004.1974.tb01652.x","article-title":"The Roberts syndrome","volume":"5","author":"Freeman","year":"1974","journal-title":"Clin. Genet."},{"key":"key\n\t\t\t\t20170522141623_DDN116C5","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1002\/ajmg.1320240410","article-title":"SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma","volume":"24","author":"Parry","year":"1986","journal-title":"Am. J. Med. Genet."},{"key":"key\n\t\t\t\t20170522141623_DDN116C6","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/0165-4608(88)90230-0","article-title":"Rhabdomyosarcoma in Roberts syndrome","volume":"31","author":"Wenger","year":"1988","journal-title":"Cancer Genet. Cytogenet."},{"key":"key\n\t\t\t\t20170522141623_DDN116C7","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1002\/ajmg.1320430532","article-title":"History of C-patient with SC-Roberts\/pseudothalidamide syndrome","volume":"43","author":"Feingold","year":"1992","journal-title":"Am. J. Med. Genet."},{"key":"key\n\t\t\t\t20170522141623_DDN116C8","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/0090-3019(93)90168-Z","article-title":"Oculomotor nerve cavernous angioma in a patient with Roberts syndrome","volume":"40","author":"Ogilvy","year":"1993","journal-title":"Surg. Neurol."},{"key":"key\n\t\t\t\t20170522141623_DDN116C9","doi-asserted-by":"crossref","first-page":"280","DOI":"10.5694\/j.1326-5377.1973.tb128828.x","article-title":"A sibship with the pseudothalidomide syndrome and an association with Rh incompatibility","volume":"2","author":"Judge","year":"1973","journal-title":"Med. J. Aust."},{"key":"key\n\t\t\t\t20170522141623_DDN116C10","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1111\/j.1399-0004.1979.tb01354.x","article-title":"Roberts\u2019 syndrome I. Cytological evidence for a disturbance in chromatid pairing","volume":"16","author":"German","year":"1979","journal-title":"Clin. Genet."},{"key":"key\n\t\t\t\t20170522141623_DDN116C11","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1002\/ajmg.1320040104","article-title":"Cytogenetic findings in Roberts-SC phocomelia syndrome(s)","volume":"4","author":"Tomkins","year":"1979","journal-title":"Am. J. Med. Genet."},{"key":"key\n\t\t\t\t20170522141623_DDN116C12","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1111\/j.1399-0004.1981.tb00671.x","article-title":"Roberts's syndrome. II. Aberrant Y-chromosome behavior","volume":"19","author":"Louie","year":"1981","journal-title":"Clin. Genet."},{"key":"key\n\t\t\t\t20170522141623_DDN116C13","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1007\/BF00344159","article-title":"Studies of mitotic and centromeric abnormalities in Roberts syndrome: implications for a defect in the mitotic mechanism","volume":"100","author":"Jabs","year":"1991","journal-title":"Chromosoma"},{"key":"key\n\t\t\t\t20170522141623_DDN116C14","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/0165-1161(89)90049-6","article-title":"Hypersensitivity to mitomycin C cell-killing in Roberts syndrome fibroblasts with, but not without, the heterochromatin abnormality","volume":"216","author":"Burns","year":"1989","journal-title":"Mutat. Res."},{"key":"key\n\t\t\t\t20170522141623_DDN116C15","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1007\/BF01232749","article-title":"Sensitivity of Roberts syndrome cells to gamma radiation, mitomycin C, and protein synthesis inhibitors","volume":"19","author":"Van den Berg","year":"1993","journal-title":"Somat. Cell Mol. Genet."},{"key":"key\n\t\t\t\t20170522141623_DDN116C16","first-page":"1332","article-title":"Abnormalities in the cell-division cycle in Roberts syndrome fibroblasts: a cellular basis for the phenotypic characteristics?","volume":"36","author":"Tomkins","year":"1984","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522141623_DDN116C17","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/S0092-8674(01)80008-8","article-title":"A direct link between sister chromatid cohesion and chromosome condensation revealed through the analysis of MCD1 in S. cerevisiae","volume":"91","author":"Guacci","year":"1997","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170522141623_DDN116C18","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/S0092-8674(01)80007-6","article-title":"Cohesins: chromosomal proteins that prevent premature separation of sister chromatids","volume":"91","author":"Michaelis","year":"1997","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170522141623_DDN116C19","doi-asserted-by":"crossref","first-page":"1986","DOI":"10.1101\/gad.12.13.1986","article-title":"Identification of Xenopus SMC protein complexes required for sister chromatid cohesion","volume":"12","author":"Losada","year":"1998","journal-title":"Genes Dev."},{"key":"key\n\t\t\t\t20170522141623_DDN116C20","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1083\/jcb.151.4.749","article-title":"Characterization of vertebrate cohesin complexes and their regulation in prophase","volume":"151","author":"Sumara","year":"2000","journal-title":"J. Cell Biol."},{"key":"key\n\t\t\t\t20170522141623_DDN116C21","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1101\/gad.13.3.307","article-title":"Ctf7p is essential for sister chromatid cohesion and links mitotic chromosome structure to the DNA replication machinery","volume":"13","author":"Skibbens","year":"1999","journal-title":"Genes Dev."},{"key":"key\n\t\t\t\t20170522141623_DDN116C22","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1101\/gad.13.3.320","article-title":"Yeast cohesin complex requires a conserved protein, Eco1p(Ctf7), to establish cohesion between sister chromatids during DNA replication","volume":"13","author":"Toth","year":"1999","journal-title":"Genes Dev."},{"key":"key\n\t\t\t\t20170522141623_DDN116C23","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/S0960-9822(02)00681-4","article-title":"Eco1 is a novel acetyltransferase that can acetylate proteins involved in cohesion","volume":"12","author":"Ivanov","year":"2002","journal-title":"Curr. Biol."},{"key":"key\n\t\t\t\t20170522141623_DDN116C24","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1126\/science.1140649","article-title":"Postreplicative formation of cohesion is required for repair and induced by a single DNA break","volume":"317","author":"Str\u00f6m","year":"2007","journal-title":"Science"},{"key":"key\n\t\t\t\t20170522141623_DDN116C25","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1126\/science.1140637","article-title":"DNA double-strand breaks trigger genome-wide sister-chromatid cohesion through Eco1 (Ctf7)","volume":"317","author":"\u00dcnal","year":"2007","journal-title":"Science"},{"key":"key\n\t\t\t\t20170522141623_DDN116C26","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1038\/ng1548","article-title":"Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion","volume":"37","author":"Vega","year":"2005","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522141623_DDN116C27","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1086\/498695","article-title":"Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation","volume":"77","author":"Sch\u00fcle","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522141623_DDN116C28","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1002\/jcp.20708","article-title":"A homozygous frameshift mutation in the ESCO2 gene: Evidence of intertissue and interindividual variation in Nmd efficiency","volume":"209","author":"Resta","year":"2006","journal-title":"J. Cell. Physio."},{"key":"key\n\t\t\t\t20170522141623_DDN116C29","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1002\/pd.1904","article-title":"Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family","volume":"28","author":"Schulz","year":"2008","journal-title":"Prenat. Diagn."},{"key":"key\n\t\t\t\t20170522141623_DDN116C30","doi-asserted-by":"crossref","first-page":"3459","DOI":"10.1128\/MCB.20.10.3459-3469.2000","article-title":"Fission yeast Eso1p is required for establishing sister chromatid cohesion during S phase","volume":"20","author":"Tanaka","year":"2000","journal-title":"Mol. Cell. Biol."},{"key":"key\n\t\t\t\t20170522141623_DDN116C31","doi-asserted-by":"crossref","first-page":"2025","DOI":"10.1016\/j.cub.2003.11.018","article-title":"Two putative acetyltransferases, san and deco, are required for establishing sister chromatid cohesion in Drosophila","volume":"13","author":"Williams","year":"2003","journal-title":"Curr. Biol."},{"key":"key\n\t\t\t\t20170522141623_DDN116C32","doi-asserted-by":"crossref","first-page":"6334","DOI":"10.1093\/nar\/gkg811","article-title":"Human EFO1p exhibits acetyltransferase activity and is a unique combination of linker histone and Ctf7p\/Eco1p chromatid cohesion establishment domains","volume":"31","author":"Bellows","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t20170522141623_DDN116C33","doi-asserted-by":"crossref","first-page":"3908","DOI":"10.1091\/mbc.E04-12-1063","article-title":"Two human orthologues of Eco1\/Ctf7 acetyltransferases are both required for proper sister-chromatid cohesion","volume":"16","author":"Hou","year":"2005","journal-title":"Mol. Biol. Cell"},{"key":"key\n\t\t\t\t20170522141623_DDN116C34","doi-asserted-by":"crossref","first-page":"R50","DOI":"10.1016\/j.cub.2004.12.052","article-title":"Ctf7p\/Eco1p exhibits acetyltransferase activity - but does it matter?","volume":"15","author":"Brands","year":"2005","journal-title":"Curr. Biol."},{"key":"key\n\t\t\t\t20170522141623_DDN116C35","doi-asserted-by":"crossref","first-page":"2528","DOI":"10.4161\/cc.5.21.3405","article-title":"Intersection between the regulators of sister chromatid cohesion establishment and maintenance in budding yeast indicates a multi-step mechanism","volume":"5","author":"Noble","year":"2006","journal-title":"Cell Cycle"},{"key":"key\n\t\t\t\t20170522141623_DDN116C36","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nrg775","article-title":"Listening to silence and understanding nonsense: exonic mutations that affect splicing","volume":"3","author":"Cartegni","year":"2002","journal-title":"Nat. Rev. Genet."},{"key":"key\n\t\t\t\t20170522141623_DDN116C37","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1002\/bies.20210","article-title":"Regulatory cross-talk between lysine acetylation and ubiquitination: role in the control of protein stability","volume":"27","author":"Caron","year":"2005","journal-title":"Bioessays"},{"key":"key\n\t\t\t\t20170522141623_DDN116C38","doi-asserted-by":"crossref","first-page":"21797","DOI":"10.1074\/jbc.M503134200","article-title":"The balance between acetylation and deacetylation controls Smad7 stability","volume":"280","author":"Simonsson","year":"2005","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522141623_DDN116C39","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1146\/annurev.biophys.29.1.81","article-title":"GCN5-related N-acetyltransferases: a structural overview","volume":"29","author":"Dyda","year":"2000","journal-title":"Annu. Rev. Biophys. Biomol. Struct."},{"key":"key\n\t\t\t\t20170522141623_DDN116C40","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1111\/j.1399-0004.1998.tb03772.x","article-title":"Cell proliferation rate and nuclear morphometry in Roberts syndrome","volume":"54","author":"Pavlopoulos","year":"1998","journal-title":"Clin. Genet."},{"key":"key\n\t\t\t\t20170522141623_DDN116C41","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00412-006-0072-6","article-title":"Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes","volume":"116","author":"Dorsett","year":"2007","journal-title":"Chromosoma"},{"key":"key\n\t\t\t\t20170522141623_DDN116C42","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1101\/gad.13.6.698","article-title":"The boundaries of the silenced HMR domain in Saccharomyces cerevisiae","volume":"13","author":"Donze","year":"1999","journal-title":"Genes Dev."},{"key":"key\n\t\t\t\t20170522141623_DDN116C43","doi-asserted-by":"crossref","first-page":"2935","DOI":"10.1101\/gad.764102","article-title":"Cell-cycle control of the establishment of mating-type silencing in S. cerevisiae","volume":"16","author":"Lau","year":"2002","journal-title":"Genes Dev."},{"key":"key\n\t\t\t\t20170522141623_DDN116C44","doi-asserted-by":"crossref","first-page":"4743","DOI":"10.1242\/dev.02064","article-title":"Effects of sister chromatid cohesion proteins on cut gene expression during wing development in Drosophila","volume":"132","author":"Dorsett","year":"2005","journal-title":"Development"},{"key":"key\n\t\t\t\t20170522141623_DDN116C45","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1016\/j.molcel.2006.08.018","article-title":"Establishment of sister chromatid cohesion at the S. cerevisiae replication fork","volume":"23","author":"Lengronne","year":"2006","journal-title":"Mol Cell."},{"key":"key\n\t\t\t\t20170522141623_DDN116C46","doi-asserted-by":"crossref","first-page":"e45","DOI":"10.1093\/nar\/29.9.e45","article-title":"A new mathematical model for relative quantification in real-time RT-PCR","volume":"29","author":"Pfaffl","year":"2001","journal-title":"Nucleic Acids Res."},{"issue":"102","key":"key\n\t\t\t\t20170522141623_DDN116C47","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/0014-4827(76)90037-9","article-title":"The utilization of bromodeoxyuridine incorporation into DNA for the analysis of cellular kinetics","volume":"15","author":"Tice","year":"1976","journal-title":"Exp. Cell Res."},{"key":"key\n\t\t\t\t20170522141623_DDN116C48","first-page":"358","article-title":"Average generation time: a new method of analysis and quantitation of cellular proliferation kinetics","volume":"4","author":"Ivett","year":"1982","journal-title":"Environ. Mutagen."},{"key":"key\n\t\t\t\t20170522141623_DDN116C49","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1038\/251156a0","article-title":"New Giemsa method for the differential staining of sister chromatids","volume":"251","author":"Perry","year":"1974","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522141623_DDN116C50","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1007\/BF00328535","article-title":"Factors involved in differential Giemsa-staining of sister chromatids","volume":"66","author":"Goto","year":"1978","journal-title":"Chromosoma"},{"key":"key\n\t\t\t\t20170522141623_DDN116C51","first-page":"29","article-title":"Characterization of the sensitivity to various stress agents in Roberts syndrome lymphoblastoid cell lines","volume":"49","author":"Gordillo","year":"2006","journal-title":"Med. J. Osaka. Univ."},{"key":"key\n\t\t\t\t20170522141623_DDN116C52","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","article-title":"Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion","volume":"15","author":"den Dunnen","year":"2000","journal-title":"Hum. Mutat."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/17\/14\/2172\/17244889\/ddn116.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,4]],"date-time":"2020-05-04T09:05:12Z","timestamp":1588583112000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddn116"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,4,14]]},"references-count":52,"journal-issue":{"issue":"14","published-online":{"date-parts":[[2008,4,14]]},"published-print":{"date-parts":[[2008,7,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddn116","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2008,4,14]]}}}