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Novel WDR72 mutation and cytoplasmic localization.

ABSTRACT: The proven candidate genes for amelogenesis imperfecta (AI) are AMELX, ENAM, MMP20, KLK4, FAM83H, and WDR72. We performed mutation analyses on seven families with hypomaturation AI. A novel WDR72 dinucleotide deletion mutation (g.57,426_57,427delAT; c.1467_ 1468delAT; p.V491fsX497) was identified in both alleles of probands from Mexico and Turkey. Haplotype analyses showed that the mutations arose independently in the two families. The disease perfectly segregated with the genotype. Only persons with both copies of the mutant allele were affected. Their hypomineralized enamel suffered attrition and orange-brown staining following eruption. Expression of WDR72 fused to green fluorescent protein showed a cytoplasmic localization exclusively and was absent from the nucleus. We conclude that WDR72 is a cytoplasmic protein that is critical for dental enamel formation.

SUBMITTER: Lee SK

PROVIDER: S-EPMC3144073 | biostudies-literature | 2010 Dec

REPOSITORIES: biostudies-literature

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Novel WDR72 mutation and cytoplasmic localization.

Lee S-K SK Seymen F F Lee K-E KE Kang H-Y HY Yildirim M M Tuna E Bahar EB Gencay K K Hwang Y-H YH Nam K H KH De La Garza R J RJ Hu J C-C JC Simmer J P JP Kim J-W JW

Journal of dental research 20101011 12

The proven candidate genes for amelogenesis imperfecta (AI) are AMELX, ENAM, MMP20, KLK4, FAM83H, and WDR72. We performed mutation analyses on seven families with hypomaturation AI. A novel WDR72 dinucleotide deletion mutation (g.57,426_57,427delAT; c.1467_ 1468delAT; p.V491fsX497) was identified in both alleles of probands from Mexico and Turkey. Haplotype analyses showed that the mutations arose independently in the two families. The disease perfectly segregated with the genotype. Only persons ...[more]

PMID: 20938048

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Novel WDR72 mutation and cytoplasmic localization.

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Novel WDR72 mutation and cytoplasmic localization.

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