Alteration of conserved alternative splicing in AMELX causes enamel defects

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, Hansung Jung, Z. H. Lee, J. W. Kim

Research output: Contribution to journalArticle

16 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)980-987
Number of pages8
JournalJournal of Dental Research
Volume93
Issue number10
DOIs
Publication statusPublished - 2014 Oct 1

Fingerprint

Alternative Splicing
Dental Enamel
Amelogenin
Exons
Genetically Modified Animals
Hardness
Vertebrates
Tooth
Protein Isoforms
Animal Models
Messenger RNA
Mutation
Genes
Proteins

All Science Journal Classification (ASJC) codes

  • Dentistry(all)

Cite this

Cho, E. S., Kim, K. J., Lee, K. E., Lee, E. J., Yun, C. Y., Lee, M. J., ... Kim, J. W. (2014). Alteration of conserved alternative splicing in AMELX causes enamel defects. Journal of Dental Research, 93(10), 980-987. https://doi.org/10.1177/0022034514547272
Cho, E. S. ; Kim, K. J. ; Lee, K. E. ; Lee, E. J. ; Yun, C. Y. ; Lee, M. J. ; Shin, T. J. ; Hyun, H. K. ; Kim, Y. J. ; Lee, S. H. ; Jung, Hansung ; Lee, Z. H. ; Kim, J. W. / Alteration of conserved alternative splicing in AMELX causes enamel defects. In: Journal of Dental Research. 2014 ; Vol. 93, No. 10. pp. 980-987.
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Cho, ES, Kim, KJ, Lee, KE, Lee, EJ, Yun, CY, Lee, MJ, Shin, TJ, Hyun, HK, Kim, YJ, Lee, SH, Jung, H, Lee, ZH & Kim, JW 2014, 'Alteration of conserved alternative splicing in AMELX causes enamel defects', Journal of Dental Research, vol. 93, no. 10, pp. 980-987. https://doi.org/10.1177/0022034514547272

Alteration of conserved alternative splicing in AMELX causes enamel defects. / Cho, E. S.; Kim, K. J.; Lee, K. E.; Lee, E. J.; Yun, C. Y.; Lee, M. J.; Shin, T. J.; Hyun, H. K.; Kim, Y. J.; Lee, S. H.; Jung, Hansung; Lee, Z. H.; Kim, J. W.

In: Journal of Dental Research, Vol. 93, No. 10, 01.10.2014, p. 980-987.

Research output: Contribution to journalArticle

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AU - Lee, Z. H.

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