Altered enamelin phosphorylation site causes amelogenesis imperfecta.

Abstract:

:Defects in the enamelin gene (ENAM) cause amelogenesis imperfecta (AI). Our objective was to identify the genetic etiology of enamel hypoplasia in a Caucasian proband. Our hypothesis was that ENAM was defective. The proband and his father have an AG insertion (g.13185_13186insAG; p.422FsX448) in ENAM previously identified in AI kindreds from Slovenia and Turkey. The proband, his brother, and his mother have a novel missense mutation (g.12573C>T) that substitutes leucine for a phosphorylated serine (p.S216L) in the 32-kDa enamelin cleavage product. In this family, a defect in one ENAM allele caused minor pitting or localized enamel hypoplasia, whereas defects in both alleles caused severe enamel malformations, with little or no mineral covering dentin. Ser(216) is one of two serines on the 32-kDa enamelin that is phosphorylated by Golgi casein kinase and is thought to mediate calcium binding. We propose that phosphorylation of enamelin is critical for its function.

journal_name

J Dent Res

authors

Chan HC,Mai L,Oikonomopoulou A,Chan HL,Richardson AS,Wang SK,Simmer JP,Hu JC

doi

10.1177/0022034510365662

subject

Has Abstract

pub_date

2010-07-01 00:00:00

pages

695-9

issue

7

eissn

0022-0345

issn

1544-0591

pii

0022034510365662

journal_volume

89

pub_type

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