{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T05:46:58Z","timestamp":1784180818198,"version":"3.55.0"},"reference-count":21,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2021,3,26]],"date-time":"2021-03-26T00:00:00Z","timestamp":1616716800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,5,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Deletions of chromosome 1p36 are the most common telomeric deletions in humans and are associated with an increased risk of orofacial clefting. Deletion\/phenotype mapping, combined with data from human and mouse studies, suggests the existence of multiple 1p36 genes associated with orofacial clefting including SKI, PRDM16, PAX7 and GRHL3. The arginine\u2013glutamic acid dipeptide (RE) repeats gene (RERE) is located in the proximal critical region for 1p36 deletion syndrome and encodes a nuclear receptor co-regulator. Pathogenic RERE variants have been shown to cause neurodevelopmental disorder with or without anomalies of the brain, eye or heart (NEDBEH). Cleft lip has previously been described in one individual with NEDBEH. Here we report the first individual with NEDBEH to have a cleft palate. We confirm that RERE is broadly expressed in the palate during mouse embryonic development, and we demonstrate that the majority of RERE-deficient mouse embryos on C57BL\/6 background have cleft palate. We go on to show that ablation of Rere in cranial neural crest (CNC) cells, mediated by a Wnt1-Cre, leads to delayed elevation of the palatal shelves and cleft palate and that proliferation of mesenchymal cells in the palatal shelves is significantly reduced in Rereflox\/flox; Wnt1-Cre embryos. We conclude that loss of RERE function contributes to the development of orofacial clefts in individuals with proximal 1p36 deletions and NEDBEH and that RERE expression in CNC cells and their derivatives is required for normal palatal development.<\/jats:p>","DOI":"10.1093\/hmg\/ddab084","type":"journal-article","created":{"date-parts":[[2021,3,18]],"date-time":"2021-03-18T20:12:24Z","timestamp":1616098344000},"page":"595-602","source":"Crossref","is-referenced-by-count":11,"title":["RERE deficiency contributes to the development of orofacial clefts in humans and mice"],"prefix":"10.1093","volume":"30","author":[{"given":"Bum Jun","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitisha P","family":"Zaveri","sequence":"additional","affiliation":[{"name":"Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter N","family":"Kundert","sequence":"additional","affiliation":[{"name":"Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"},{"name":"Medical Scientist Training Program, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie K","family":"Jordan","sequence":"additional","affiliation":[{"name":"Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiana M","family":"Scott","sequence":"additional","affiliation":[{"name":"Department of Microbiology and Molecular Biology, Brigham Young University, Provo, UT 84602, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny","family":"Carmichael","sequence":"additional","affiliation":[{"name":"LNR Genomic Medicine Service, Northampton General Hospital, Cliftonville, Northampton NN1 5BD, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daryl A","family":"Scott","sequence":"additional","affiliation":[{"name":"Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"},{"name":"Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,3,26]]},"reference":[{"key":"2021070819093076000_ref1","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1542\/peds.2007-0929","article-title":"Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation","volume":"121","author":"Battaglia","year":"2008","journal-title":"Pediatrics"},{"key":"2021070819093076000_ref2","first-page":"189","article-title":"1p36 deletion syndrome: an update","volume":"8","author":"Jordan","year":"2015","journal-title":"Appl. Clin. Genet."},{"key":"2021070819093076000_ref3","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1016\/j.ajhg.2016.03.002","article-title":"De novo mutations of RERE cause a genetic syndrome with features that overlap those associated with proximal 1p36 deletions","volume":"98","author":"Fregeau","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"2021070819093076000_ref4","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1002\/humu.23400","article-title":"Genotype-phenotype correlations in individuals with pathogenic RERE variants","volume":"39","author":"Jordan","year":"2018","journal-title":"Hum. 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Biol."},{"key":"2021070819093076000_ref9","doi-asserted-by":"crossref","first-page":"e57460","DOI":"10.1371\/journal.pone.0057460","article-title":"An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions","volume":"8","author":"Kim","year":"2013","journal-title":"PLoS One"},{"key":"2021070819093076000_ref10","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1038\/ng770","article-title":"Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski\u2212\/\u2212 mice","volume":"30","author":"Colmenares","year":"2002","journal-title":"Nat. Genet."},{"key":"2021070819093076000_ref11","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1093\/hmg\/ddp543","article-title":"Prdm16 is required for normal palatogenesis in mice","volume":"19","author":"Bjork","year":"2010","journal-title":"Hum. Mol. 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