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Novel WDR72 mutation and cytoplasmic localization.

S-K Lee1, F Seymen, K-E Lee

  • 1Department of Cell and Developmental Biology, Seoul National University, 275-1 Yongon-dong, Chongno-gu, Seoul 110-768, Korea.

Journal of Dental Research
|October 13, 2010
PubMed
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A novel mutation in the WDR72 gene was identified in families with amelogenesis imperfecta (AI). This finding highlights WDR72

Area of Science:

  • Genetics
  • Biochemistry
  • Developmental Biology

Background:

  • Amelogenesis imperfecta (AI) is a group of inherited enamel defects.
  • Known genetic causes of AI include mutations in AMELX, ENAM, MMP20, KLK4, FAM83H, and WDR72.

Purpose of the Study:

  • To investigate the genetic basis of hypomaturation AI in seven families.
  • To identify novel mutations in candidate genes associated with AI.

Main Methods:

  • Mutation analysis was performed on DNA from affected individuals and their families.
  • Haplotype analysis was used to determine the origin of mutations.
  • Expression studies using WDR72 fused to green fluorescent protein (GFP) were conducted.

Main Results:

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  • A novel dinucleotide deletion mutation in the WDR72 gene (c.1467_1468delAT) was identified in affected individuals from two unrelated families.
  • The mutation segregated with the disease phenotype, indicating a causal relationship.
  • Haplotype analysis suggested independent origins of the mutation in the two families.
  • WDR72-GFP fusion protein exhibited cytoplasmic localization, excluding nuclear presence.

Conclusions:

  • WDR72 is a critical gene for dental enamel formation.
  • The identified WDR72 mutation causes hypomaturation AI.
  • WDR72 functions as a cytoplasmic protein in the context of enamel development.