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Alteration of Conserved Alternative Splicing in AMELX Causes Enamel Defects

DC Field Value Language
dc.contributor.author이민정-
dc.contributor.author정한성-
dc.date.accessioned2015-01-06T17:33:14Z-
dc.date.available2015-01-06T17:33:14Z-
dc.date.issued2014-
dc.identifier.issn0022-0345-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/100195-
dc.description.abstractTooth enamel is the most highly mineralized tissue in vertebrates. Enamel crystal formation and elongation should be well controlled to achieve an exceptional hardness and a compact microstructure. Enamel matrix calcification occurs with several matrix proteins, such as amelogenin, enamelin, and ameloblastin. Among them, amelogenin is the most abundant enamel matrix protein, and multiple isoforms resulting from extensive but well-conserved alternative splicing and postsecretional processing have been identified. In this report, we recruited a family with a unique enamel defect and identified a silent mutation in exon 4 of the AMELX gene. We show that the mutation caused the inclusion of exon 4, which is almost always skipped, in the mRNA transcript. We further show, by generating and characterizing a transgenic animal model, that the alteration of the ratio and quantity of the developmentally conserved alternative splicing repertoire of AMELX caused defects in enamel matrix mineralization.-
dc.description.statementOfResponsibilityopen-
dc.format.extent980~987-
dc.relation.isPartOfJOURNAL OF DENTAL RESEARCH-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAlternative Splicing/genetics*-
dc.subject.MESHAmeloblasts/pathology-
dc.subject.MESHAmelogenesis Imperfecta/genetics*-
dc.subject.MESHAmelogenesis Imperfecta/pathology-
dc.subject.MESHAmelogenin/genetics*-
dc.subject.MESHAnimals-
dc.subject.MESHChild-
dc.subject.MESHConserved Sequence/genetics*-
dc.subject.MESHCrystallography-
dc.subject.MESHDental Enamel/pathology-
dc.subject.MESHDental Enamel/ultrastructure-
dc.subject.MESHExons/genetics-
dc.subject.MESHFemale-
dc.subject.MESHGenetic Linkage-
dc.subject.MESHGenetic Vectors/genetics-
dc.subject.MESHHumans-
dc.subject.MESHIntrons/genetics-
dc.subject.MESHMice-
dc.subject.MESHMice, Inbred C57BL-
dc.subject.MESHMice, Inbred Strains-
dc.subject.MESHMice, Transgenic-
dc.subject.MESHMicrosatellite Repeats/genetics-
dc.subject.MESHMutation/genetics-
dc.subject.MESHPhenotype-
dc.subject.MESHPromoter Regions, Genetic/genetics-
dc.subject.MESHProtein Isoforms/genetics-
dc.subject.MESHRNA, Messenger/genetics*-
dc.subject.MESHTranscription, Genetic/genetics-
dc.titleAlteration of Conserved Alternative Splicing in AMELX Causes Enamel Defects-
dc.typeArticle-
dc.contributor.collegeCollege of Dentistry (치과대학)-
dc.contributor.departmentDept. of Oral Biology (구강생물학)-
dc.contributor.googleauthorE.S. Cho-
dc.contributor.googleauthorK.-J. Kim-
dc.contributor.googleauthorK.-E. Lee-
dc.contributor.googleauthorE.-J. Lee-
dc.contributor.googleauthorC.Y. Yun-
dc.contributor.googleauthorM.-J. Lee-
dc.contributor.googleauthorT.J. Shin-
dc.contributor.googleauthorH.-K. Hyun-
dc.contributor.googleauthorY.-J. Kim-
dc.contributor.googleauthorS.-H. Lee-
dc.contributor.googleauthorH.-S. Jung-
dc.contributor.googleauthorZ.H. Lee-
dc.contributor.googleauthorJ.-W. Kim-
dc.identifier.doi10.1177/0022034514547272-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA03758-
dc.contributor.localIdA02785-
dc.relation.journalcodeJ01367-
dc.identifier.eissn1544-0591-
dc.identifier.pmid25117480-
dc.identifier.urlhttp://jdr.sagepub.com/content/93/10/980.long-
dc.subject.keywordX-linked-
dc.subject.keywordamelogenesis imperfecta-
dc.subject.keywordamelogenin-
dc.subject.keywordmRNA splicing-
dc.subject.keywordsilent mutation-
dc.subject.keywordtooth-
dc.contributor.alternativeNameLee, Min Jung-
dc.contributor.alternativeNameJung, Han Sung-
dc.contributor.affiliatedAuthorJung, Han Sung-
dc.contributor.affiliatedAuthorLee, Min Jung-
dc.rights.accessRightsfree-
dc.citation.volume93-
dc.citation.number10-
dc.citation.startPage980-
dc.citation.endPage987-
dc.identifier.bibliographicCitationJOURNAL OF DENTAL RESEARCH, Vol.93(10) : 980-987, 2014-
dc.identifier.rimsid51742-
dc.type.rimsART-
Appears in Collections:
2. College of Dentistry (치과대학) > Dept. of Oral Biology (구강생물학교실) > 1. Journal Papers

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