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

Journal Article · Wed Mar 01 04:00:00 EST 1995 · Genomics

DOI:https://doi.org/10.1016/0888-7543(95)80097-6· OSTI ID:249977

Lagerstroem-Fermer, M; Nilsson, M; Pettersson, U ^[1]

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1. Univ. of Uppsala (Sweden); and others

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.

• OSTI ID: 249977
• Journal Information: Genomics, Journal Name: Genomics Journal Issue: 1 Vol. 26; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOSYNTHESIS
DENTIN
DETECTION
GENE MUTATIONS
HEREDITARY DISEASES
HUMAN X CHROMOSOME