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Alteration of Conserved Alternative Splicing in AMELX Causes Enamel Defects

Authors
 E.S. Cho  ;  K.-J. Kim  ;  K.-E. Lee  ;  E.-J. Lee  ;  C.Y. Yun  ;  M.-J. Lee  ;  T.J. Shin  ;  H.-K. Hyun  ;  Y.-J. Kim  ;  S.-H. Lee  ;  H.-S. Jung  ;  Z.H. Lee  ;  J.-W. Kim 
Citation
 JOURNAL OF DENTAL RESEARCH, Vol.93(10) : 980-987, 2014 
Journal Title
 JOURNAL OF DENTAL RESEARCH 
ISSN
 0022-0345 
Issue Date
2014
MeSH
Alternative Splicing/genetics* ; Ameloblasts/pathology ; Amelogenesis Imperfecta/genetics* ; Amelogenesis Imperfecta/pathology ; Amelogenin/genetics* ; Animals ; Child ; Conserved Sequence/genetics* ; Crystallography ; Dental Enamel/pathology ; Dental Enamel/ultrastructure ; Exons/genetics ; Female ; Genetic Linkage ; Genetic Vectors/genetics ; Humans ; Introns/genetics ; Mice ; Mice, Inbred C57BL ; Mice, Inbred Strains ; Mice, Transgenic ; Microsatellite Repeats/genetics ; Mutation/genetics ; Phenotype ; Promoter Regions, Genetic/genetics ; Protein Isoforms/genetics ; RNA, Messenger/genetics* ; Transcription, Genetic/genetics
Keywords
X-linked ; amelogenesis imperfecta ; amelogenin ; mRNA splicing ; silent mutation ; tooth
Abstract
Tooth 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.
Full Text
http://jdr.sagepub.com/content/93/10/980.long
DOI
10.1177/0022034514547272
Appears in Collections:
2. College of Dentistry (치과대학) > Dept. of Oral Biology (구강생물학교실) > 1. Journal Papers
Yonsei Authors
Lee, Min Jung(이민정)
Jung, Han Sung(정한성) ORCID logo https://orcid.org/0000-0003-2795-531X
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/100195
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