An amelogenin gene defect associated with human X-linked amelogenesis imperfecta.
Dental enamel is a product of ameloblast cells, which secrete a mineralizing organic matrix, composed primarily of amelogenin proteins. The amelogenins are thought to be crucial for development of normal, highly mineralized enamel. The X-chromosomal amelogenin gene is a candidate gene for those cases of amelogenesis imperfecta, resulting in defective enamel, in which inheritance is X-linked. In this report, a kindred is described that has a C to A mutation resulting in a pro to thr change in exon 6 of the X-chromosomal amelogenin gene in three affected individuals, a change not found in unaffected members of the kindred. The proline that is changed by the mutation is conserved in amelogenin genes from all species examined to date.
Collier
P M
PM
Department of Anatomy and Histology, School of Dental Medicine, University of Pennsylvania, Philadelphia 19104, USA.
Sauk
J J
JJ
Rosenbloom
S J
SJ
Yuan
Z A
ZA
Gibson
C W
CW
D000225:Adenine; D000565:Ameloblasts / Q000378:metabolism; D000567:Amelogenesis Imperfecta / Q000235:genetics*; D053523:Amelogenin; D001483:Base Sequence; D003596:Cytosine; D003743:Dental Enamel / Q000002:abnormalities / Q000378:metabolism; D003746:Dental Enamel Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D011392:Proline / Q000235:genetics; D013912:Threonine / Q000235:genetics; D014083:Tooth Germ / Q000378:metabolism*; D014960:X Chromosome / Q000235:genetics*
D053523:Amelogenin; D003746:Dental Enamel Proteins; D013912:Threonine; D003596:Cytosine; D011392:Proline; D000225:Adenine