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We previously identified 2p24.2 as a risk locus associated with NSCL\/P in the Chinese Han population, and MYCN is a candidate risk gene in this region. To understand the potential function of MYCN in craniofacial development, we generated Wnt1-Cre;Mycnflox\/flox mice that exhibited cleft palate, microglossia and micrognathia, resembling the Pierre Robin sequence (PRS) in humans. Further analyses indicated that the cleft palate was secondary to the delayed elevation of palatal shelves caused by micrognathia. The micrognathia resulted from impaired chondrogenic differentiation in Merkel\u2019s cartilage, which limited tongue development, leading to microglossia. In terms of mechanism, Mycn deficiency in cranial neural crest cells (CNCCs) downregulated Sox9 expression by inhibiting Wnt5a in a CNCC-derived chondrogenic lineage in Merkel\u2019s cartilage. To investigate whether MYCN deficiency contributed to NSCL\/P, we performed direct sequencing targeting all exons and exon\u2013intron boundaries of MYCN in 104 multiplex families with Mendelian NSCL\/P and identified a novel pathogenic variant in MYCN. Taken together, our data indicate that ablation of Mycn in mouse CNCCs could resemble PRS by suppressing the Wnt5a-Sox9 signaling pathway in Merkel\u2019s cartilage and that mutations in MYCN may be novel potential causes of NSCL\/P.<\/jats:p>","DOI":"10.1093\/hmg\/ddab288","type":"journal-article","created":{"date-parts":[[2021,9,24]],"date-time":"2021-09-24T13:36:30Z","timestamp":1632490590000},"page":"803-815","source":"Crossref","is-referenced-by-count":12,"title":["<i>Mycn<\/i>deficiency underlies the development of orofacial clefts in mice and humans"],"prefix":"10.1093","volume":"31","author":[{"given":"Ruihuan","family":"Yang","sequence":"first","affiliation":[{"name":"The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) & Key Laboratory of Oral Biomedicine Ministry of Education, School & Hospital of Stomatology, Wuhan University, Wuhan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruyi","family":"Li","sequence":"additional","affiliation":[{"name":"The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) & Key Laboratory of Oral Biomedicine Ministry of Education, School & Hospital of Stomatology, Wuhan University, Wuhan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhuo","family":"Huang","sequence":"additional","affiliation":[{"name":"The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) & Key Laboratory of Oral Biomedicine Ministry of Education, School & Hospital of Stomatology, Wuhan University, Wuhan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yining","family":"Zuo","sequence":"additional","affiliation":[{"name":"The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) & Key Laboratory of Oral Biomedicine Ministry of Education, School & Hospital of Stomatology, Wuhan University, Wuhan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haitang","family":"Yue","sequence":"additional","affiliation":[{"name":"The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) & Key Laboratory of Oral Biomedicine Ministry of Education, School & Hospital of Stomatology, Wuhan University, Wuhan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hailin","family":"Wu","sequence":"additional","affiliation":[{"name":"The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) & Key Laboratory of Oral Biomedicine Ministry of Education, School & Hospital of Stomatology, Wuhan University, Wuhan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fan","family":"Gu","sequence":"additional","affiliation":[{"name":"The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) & Key Laboratory of Oral Biomedicine Ministry of Education, School & Hospital of Stomatology, Wuhan University, Wuhan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fei","family":"Wang","sequence":"additional","affiliation":[{"name":"The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) & Key Laboratory of Oral Biomedicine Ministry of Education, School & Hospital of Stomatology, Wuhan University, Wuhan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miao","family":"He","sequence":"additional","affiliation":[{"name":"The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) & Key Laboratory of Oral Biomedicine Ministry of Education, School & Hospital of Stomatology, Wuhan University, Wuhan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhuan","family":"Bian","sequence":"additional","affiliation":[{"name":"The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) & Key Laboratory of Oral Biomedicine Ministry of Education, School & Hospital of Stomatology, Wuhan University, Wuhan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2021,9,30]]},"reference":[{"key":"2022030413194768100_ref1","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1038\/nrg2933","article-title":"Cleft lip and palate: understanding genetic and environmental influences","volume":"12","author":"Dixon","year":"2011","journal-title":"Nat. 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(Maywood)"},{"key":"2022030413194768100_ref4","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1008357","article-title":"Genetic factors define CPO and CLO subtypes of nonsyndromicorofacial cleft","volume":"15","author":"Huang","year":"2019","journal-title":"PLoS Genet."},{"key":"2022030413194768100_ref5","doi-asserted-by":"crossref","first-page":"e1196","DOI":"10.1002\/mgg3.1196","article-title":"Novel IRF6 mutations in Chinese Han families with Van der Woude syndrome","volume":"8","author":"Yu","year":"2020","journal-title":"Mol. Genet. Genom. Med."},{"key":"2022030413194768100_ref6","doi-asserted-by":"crossref","first-page":"1238","DOI":"10.1177\/0022034517720403","article-title":"The role of noncoding genetic variation in isolated orofacial clefts","volume":"96","author":"Thieme","year":"2017","journal-title":"J. Dent. 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Opin. Cell Biol."},{"key":"2022030413194768100_ref25","doi-asserted-by":"crossref","first-page":"3627","DOI":"10.1111\/jcmm.13644","article-title":"MYCN is a novel oncogenic target in adult B-ALL that activates the Wnt\/beta-catenin pathway by suppressing DKK3","volume":"22","author":"Kong","year":"2018","journal-title":"J. Cell. Mol. Med."},{"key":"2022030413194768100_ref26","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/j.neo.2018.01.009","article-title":"Wnt signalling drives context-dependent differentiation or proliferation in neuroblastoma","volume":"20","author":"Szemes","year":"2018","journal-title":"Neoplasia"},{"key":"2022030413194768100_ref27","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1038\/labinvest.2015.142","article-title":"Wnt signaling in cartilage development and diseases: lessons from animal studies","volume":"96","author":"Usami","year":"2016","journal-title":"Lab. 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Commun."},{"key":"2022030413194768100_ref29","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/j.matbio.2013.02.005","article-title":"Dual functions for WNT5A during cartilage development and in disease","volume":"32","author":"Hosseini-Farahabadi","year":"2013","journal-title":"Matrix Biol."},{"key":"2022030413194768100_ref30","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1242\/dev.00324","article-title":"Wnt5a and Wnt5b exhibit distinct activities in coordinating chondrocyte proliferation and differentiation","volume":"130","author":"Yang","year":"2003","journal-title":"Development"},{"key":"2022030413194768100_ref31","first-page":"259","article-title":"ANTHEPROT: an integrated protein sequence analysis software with client server capabilities Comput","volume":"31","author":"Del\u00e9age","year":"2001","journal-title":"Biol. Med"},{"key":"2022030413194768100_ref32","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1242\/dev.00907","article-title":"Death is the major fate of medial edge epithelial cells and the cause of basal lamina degradation during palatogenesis","volume":"131","author":"Cuervo","year":"2004","journal-title":"Development"},{"key":"2022030413194768100_ref33","doi-asserted-by":"crossref","first-page":"1184","DOI":"10.1177\/0022034517703580","article-title":"Molecular and cellular mechanisms of palate development","volume":"96","author":"Li","year":"2017","journal-title":"J. Dent. Res."},{"issue":"2","key":"2022030413194768100_ref34","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/0925-4773(91)90078-K","article-title":"A comparative analysis of N-myc and c-myc expression and cellular proliferation in mouse organogenesis","volume":"33","author":"Hirning","year":"1991","journal-title":"Mech. Dev."},{"key":"2022030413194768100_ref35","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1111\/dgd.12115","article-title":"Dynamic expression of N-myc in mouse embryonic development using an enhanced green fluorescent protein reporter gene in the N-myc locus","volume":"56","author":"Ma","year":"2014","journal-title":"Develop. Growth Differ."},{"key":"2022030413194768100_ref36","doi-asserted-by":"crossref","first-page":"dev17488","DOI":"10.1242\/dev.174888","article-title":"The molecular anatomy of mammalian upper lip and primary palate fusion at single cell resolution","volume":"146","author":"Li","year":"2019","journal-title":"Development"},{"key":"2022030413194768100_ref37","doi-asserted-by":"crossref","first-page":"2892","DOI":"10.1093\/emboj\/16.10.2892","article-title":"Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with max, binds a non-canonical E box and acts as a transcriptional repressor","volume":"16","author":"Meroni","year":"1997","journal-title":"EMBO J."},{"key":"2022030413194768100_ref38","doi-asserted-by":"crossref","first-page":"1445","DOI":"10.1242\/dev.117.4.1445","article-title":"Defects of embryonic organogenesis resulting from targeted disruption of the N-myc gene in the mouse","volume":"117","author":"Sawai","year":"1993","journal-title":"Development"},{"key":"2022030413194768100_ref39","first-page":"2248","article-title":"Embryonic lethality in mice homozygous for a targeted disruption of the N-myc gene","volume":"6","author":"Charron","year":"1992","journal-title":"Development"},{"key":"2022030413194768100_ref40","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1002\/ajmg.c.31374","article-title":"Developmental and genetic perspectives on Pierre Robin sequence","volume":"163","author":"Tan","year":"2013","journal-title":"Am. J. Med. Genet. C. Semin. Med. Genet."},{"key":"2022030413194768100_ref41","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1038\/ng.329","article-title":"Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence","volume":"41","author":"Benko","year":"2009","journal-title":"Nat. Genet."},{"key":"2022030413194768100_ref42","first-page":"3734","article-title":"Disruption of the ERK\/MAPK pathway in neural crest cells as a potential cause of Pierre Robin sequence","volume":"142","author":"Parada","year":"2015","journal-title":"Development"},{"key":"2022030413194768100_ref43","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1007\/s00441-018-2944-5","article-title":"Conditional deletion of Bmp2 in cranial neural crest cells recapitulates Pierre Robin sequence in mice","volume":"376","author":"Chen","year":"2019","journal-title":"Cell Tissue Res."},{"key":"2022030413194768100_ref44","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1002\/ajmg.a.38022","article-title":"SATB2-associated syndrome: mechanisms, phenotype, and practical recommendations","volume":"173","author":"Zarate","year":"2017","journal-title":"Am. J. Med. Genet. A"},{"key":"2022030413194768100_ref45","doi-asserted-by":"crossref","first-page":"e23221","DOI":"10.1002\/dvg.23221","article-title":"Ectopic expression of Hoxb1 induces cardiac and craniofacial malformations","volume":"56","author":"Zaffran","year":"2018","journal-title":"Genesis"},{"key":"2022030413194768100_ref46","doi-asserted-by":"crossref","first-page":"1330","DOI":"10.1177\/0022034517723615","article-title":"Disrupted IRF6-NME1\/2 complexes as a cause of cleft lip\/palate","volume":"96","author":"Parada-Sanchez","year":"2017","journal-title":"J. Dent. Res."},{"key":"2022030413194768100_ref47","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1111\/j.1601-0825.2011.01806.x","article-title":"The mechanism of TGF-\u03b2 signaling during palate development","volume":"17","author":"Iwata","year":"2011","journal-title":"Oral Dis."},{"key":"2022030413194768100_ref48","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1002\/pbc.21195","article-title":"Use of RNA interference to elucidate the effect of MYCN on cell cycle in neuroblastoma","volume":"50","author":"Woo","year":"2008","journal-title":"Pediatr. Blood Cancer"},{"key":"2022030413194768100_ref49","first-page":"111","article-title":"Downregulation of MYCN through PI3K inhibition in mouse models of pediatric neural cancer","volume":"5","author":"Cage","year":"2013","journal-title":"Front. Oncol."},{"key":"2022030413194768100_ref50","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.ydbio.2017.07.002","article-title":"N-myc regulates growth and fiber cell differentiation in lens development","volume":"429","author":"Cavalheiro","year":"2017","journal-title":"Dev. Biol."},{"key":"2022030413194768100_ref51","doi-asserted-by":"crossref","first-page":"5675","DOI":"10.1038\/onc.2013.513","article-title":"CDK\/CK1 inhibitors roscovitine and CR8 downregulate amplified MYCN in neuroblastoma cells","volume":"33","author":"Delehouze","year":"2014","journal-title":"Oncogene"},{"key":"2022030413194768100_ref52","doi-asserted-by":"crossref","first-page":"10425","DOI":"10.1523\/JNEUROSCI.0183-16.2016","article-title":"Proliferation and survival of embryonic sympathetic neuroblasts by MYCN and activated ALK signaling","volume":"36","author":"Kramer","year":"2016","journal-title":"J. Neurosci."},{"key":"2022030413194768100_ref53","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1016\/j.ejmg.2012.04.004","article-title":"A novel chondroectodermal dysplasia mapped to chromosome 2q24.1-q31.1","volume":"55","author":"Khan","year":"2012","journal-title":"Eur. J. Med. Genet."},{"key":"2022030413194768100_ref54","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1597\/05-008.1","article-title":"The genetic basis of the Pierre Robin sequence","volume":"43","author":"Jakobsen","year":"2006","journal-title":"Cleft. Palate. Craniofac. J."},{"key":"2022030413194768100_ref55","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1002\/ajmg.10219","article-title":"De novo interstitial direct duplication 1(q23.1q31.1) in a fetus with Pierre Robin sequence and camptodactyly","volume":"108","author":"Aboura","year":"2002","journal-title":"Am. J. Med. Genet."},{"key":"2022030413194768100_ref56","doi-asserted-by":"crossref","first-page":"a014415","DOI":"10.1101\/cshperspect.a014415","article-title":"Neuroblastoma and MYCN","volume":"3","author":"Huang","year":"2013","journal-title":"Cold. Spring. Harb. Perspect. Med."},{"key":"2022030413194768100_ref57","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1038\/ejhg.2010.225","article-title":"Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia","volume":"19","author":"Cognet","year":"2011","journal-title":"Eur. J. Hum. Genet."},{"key":"2022030413194768100_ref58","doi-asserted-by":"crossref","first-page":"e22988","DOI":"10.1002\/jcla.22988","article-title":"MYCN gene polymorphisms and Wilms tumor susceptibility in Chinese children","volume":"33","author":"Huang","year":"2019","journal-title":"J. Clin. Lab. 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