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A Novel Missense Mutation (p.P52R) in Amelogenin Gene Causing X-linked Amelogenesis Imperfecta

¹ Departments of Pediatrics and
² Human Gene Therapy, Hokkaido University Graduate School of Medicine, N-15, W-7, Kita-ku, Sapporo, 060-8638, Hokkaido, Japan;
³ Sapporo Railway Hospital, N-3, E-1, Chuo-ku, Sapporo, 060-0033, Hokkaido, Japan;
⁴ Pediatric Dentistry Poplar Clinic, 3-275 Shinn-matsudo, Matsudo, 270-0034, Chiba, Japan; and
⁵ Shimadzu Analytical & Measuring Center, Inc., 380-1, Horiyama-shita, Hadano, 259-1304, Kanagawa, Japan

View larger version (39K): [in this window] [in a new window]   Figure 1. The Japanese X-linked AI family included in this study. (A) Pedigree of the family. The arrow indicates the proband. (B) The III-6 family member. His teeth showed generalized thin enamel, resulting in small tooth size, widened inter-dental spacing, brownish color, and generally hypoplastic appearance. (C) The IV-1 proband. Her teeth showed hypoplasia in the form of distinct vertical ridges. (D-F) Sequencing results of the amelogenin gene from the family members. Results of mutation detection in the members [III-7 (D), III-6 (E), and IV-1 (F)] are shown. The mutation detected is indicated by an asterisk (*).

View larger version (59K): [in this window] [in a new window]   Figure 2. X-ray diffraction (XRD) analysis of tooth enamel. The -2 scan results of the XRD curve from teeth extracted from a control (A) and from patient IV-1 (B) are shown. The vertical scale indicates the x-ray signal intensities, with the number of x-ray particles counted during a specific period of time. The horizontal axis indicates the -2 angle. The detected direction is shown at angle () of the sample to incident X-rays and angles (2) of the detector. Both samples presented sharp and well-defined peaks corresponding to hydroxyapatite deposition. No obvious differences between control and affected teeth were observed.

View larger version (31K): [in this window] [in a new window]   Figure 3. Synthesis of GST-fusion mutant and wild-type amelogenins in vitro. (A) SDS-PAGE analysis of the recombinant GST-fusion products in the E. coli lysates. (B) Immunoblotting with anti-amelogenin antibody. Lane M: molecular markers. Other lanes indicate cell lysates of an E. coli strain containing the vacant expression vector (lanes 1,2), GST-tagged wild amelogenin (lanes 3,4), and GST-tagged mutant amelogenin (lanes 5,6). Blotting under conditions with (lanes 2,4,6) or without (lanes 1,3,5) isopropyl-ß-d-thio-galactopyranoside (ITPG)-induction. The faster-migrating bands in lanes 4 and 6 are suspected to be the cleavage products of GST-fusion amelogenin (wild or mutant) protein.