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Title: Amelogenin signal peptide mutation: Correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta

Abstract

Formation of tooth enamel is a poorly understood biological process. In this study the authors describe a 9-bp deletion in exon 2 of the amelogenin gene (AMGX) causing X-linked hypoplastic amelogenesis imperfecta, a disease characterized by defective enamel. The mutation results in the loss of 3 amino acids and exchange of 1 in the signal peptide of the amelogenin protein. This deletion in the signal peptide probably interferes with translocation of the amelogenin protein during synthesis, resulting in the thin enamel observed in affected members of the family. The authors compare this mutation to a previously reported mutation in the amelogenin gene that causes a different disease phenotype. The study illustrates that molecular analysis can help explain the various manifestations of a tooth disorder and thereby provide insights into the mechanisms of tooth enamel formation. 16 refs., 2 figs., 1 tab.

Authors:
; ;  [1]
  1. Univ. of Uppsala (Sweden) [and others
Publication Date:
OSTI Identifier:
249977
Resource Type:
Journal Article
Resource Relation:
Journal Name: Genomics; Journal Volume: 26; Journal Issue: 1; Other Information: PBD: 1 Mar 1995
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; GENE MUTATIONS; DETECTION; DENTIN; BIOSYNTHESIS; HUMAN X CHROMOSOME; HEREDITARY DISEASES

Citation Formats

Lagerstroem-Fermer, M., Nilsson, M., and Pettersson, U. Amelogenin signal peptide mutation: Correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta. United States: N. p., 1995. Web. doi:10.1016/0888-7543(95)80097-6.
Lagerstroem-Fermer, M., Nilsson, M., & Pettersson, U. Amelogenin signal peptide mutation: Correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta. United States. doi:10.1016/0888-7543(95)80097-6.
Lagerstroem-Fermer, M., Nilsson, M., and Pettersson, U. Wed . "Amelogenin signal peptide mutation: Correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta". United States. doi:10.1016/0888-7543(95)80097-6.
@article{osti_249977,
title = {Amelogenin signal peptide mutation: Correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta},
author = {Lagerstroem-Fermer, M. and Nilsson, M. and Pettersson, U.},
abstractNote = {Formation of tooth enamel is a poorly understood biological process. In this study the authors describe a 9-bp deletion in exon 2 of the amelogenin gene (AMGX) causing X-linked hypoplastic amelogenesis imperfecta, a disease characterized by defective enamel. The mutation results in the loss of 3 amino acids and exchange of 1 in the signal peptide of the amelogenin protein. This deletion in the signal peptide probably interferes with translocation of the amelogenin protein during synthesis, resulting in the thin enamel observed in affected members of the family. The authors compare this mutation to a previously reported mutation in the amelogenin gene that causes a different disease phenotype. The study illustrates that molecular analysis can help explain the various manifestations of a tooth disorder and thereby provide insights into the mechanisms of tooth enamel formation. 16 refs., 2 figs., 1 tab.},
doi = {10.1016/0888-7543(95)80097-6},
journal = {Genomics},
number = 1,
volume = 26,
place = {United States},
year = {Wed Mar 01 00:00:00 EST 1995},
month = {Wed Mar 01 00:00:00 EST 1995}
}