Journal
JOURNAL OF DENTAL RESEARCH
Volume 94, Issue 8, Pages 1063-1069Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/0022034515590569
Keywords
enamelysin; proteinase; enamel; matrix; hypomaturation; hereditary
Categories
Funding
- National Research Foundation of Korea (NRF) - Korean government [2014R1A2A1A11049931]
- Korea Science and Engineering Foundation (KOSEF) through the Biotechnology RD program [2014020550]
Ask authors/readers for more resources
In order to achieve highly mineralized tooth enamel, enamel proteinases serve the important function of removing the remaining organic matrix in the mineralization and maturation of the enamel matrix. Mutations in the kallikrein 4 (KLK4), enamelysin (MMP20), and WDR72 genes have been identified as causing hypomaturation enamel defects in an autosomal-recessive hereditary pattern. In this report, 2 consanguineous families with a hypomaturation-type enamel defect were recruited, and mutational analysis was performed to determine the molecular genetic etiology of the disease. Whole exome sequencing and autozygosity mapping identified novel homozygous mutations in the KLK4 (c.620_621delCT, p.Ser207Trpfs*38) and MMP20 (c.1054G>A, p.Glu352Lys) genes. Further analysis on the effect of the mutations on the translation, secretion, and function of KLK4 and MMP20 revealed that mutant KLK4 was degraded intracellularly and became inactive while mutant MMP20 was expressed at a normal level but secreted only minimally with proteolytic function.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available