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Validation of Amelogenesis Imperfecta Inferred from Amelogenin Evolution

¹ UMR 7138, Equipe "Evolution & Développement du Squelette", Université Paris 6, Case 05, 7 quai St-Bernard, 75005 Paris, France; and
² Department of Histology, The Nippon Dental University, School of Dentistry, Niigata, Japan

^* corresponding author, sire{at}ccr.jussieu.fr

We used the evolutionary analysis of amelogenin (AMEL) in 80 amniotes (52 mammalian and 28 reptilian sequences) to aid in the genetic diagnosis of X-linked amelogenesis imperfecta (AIH1). Out of 191 residues, 77 were found to be unchanged in mammals, and only 34 in amniotes. The latter are considered crucial residues for enamel formation, while the 43 residues conserved only in mammals could indicate that they play new, important roles for enamel formation in this lineage. The 5 substitutions leading to AIH1 were validated when the mammalian dataset was used, and 4 of them with the amniote dataset. These 2 sequence datasets will facilitate the validation of any human AMEL mutation suspected of involvement in AIH1. This evolutionary analysis also revealed numerous residues that appeared to be important for correct AMEL function, but their role remains to be elucidated.

KEY WORDS: amelogenin • amelogenesis imperfecta • molecular evolution • enamel • teeth • mammals • reptiles