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Nonsense-mediated mRNA Decay

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The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
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Mutations

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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
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Related Experiment Video

Updated: Jul 9, 2026

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein

Published on: March 16, 2022

Premature stop codon in MMP20 causing amelogenesis imperfecta.

P Papagerakis¹, H-K Lin, K Y Lee

¹Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, MI 48109-1078, USA.

Journal of Dental Research

|December 22, 2007

Summary

This summary is machine-generated.

A new mutation in the MMP20 gene causes autosomal-recessive amelogenesis imperfecta, leading to thin, hypomineralized enamel. This finding deepens our understanding of enamel development and related genetic disorders.

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Area of Science:

Genetics
Biochemistry
Developmental Biology

Background:

Proteolytic enzymes are crucial for dental enamel mineralization.
Mutations in KLK4 and MMP20 genes are known causes of autosomal-recessive amelogenesis imperfecta (ARAI).
Previous reports documented limited mutations in KLK4 and MMP20.

Observation:

A novel point mutation (c.102G>A, p.W34X) in the MMP20 gene was identified in a patient with ARAI.
This mutation introduces a premature stop codon in exon 1 of MMP20.
No pathogenic variations were found in the KLK4 gene for this patient.

Findings:

The identified MMP20 mutation results in autosomal-recessive hypoplastic-hypomaturation amelogenesis imperfecta.
Affected enamel exhibits thinness, mild anterior spacing, and hypomineralization.
Radiographic analysis shows poor enamel-dentin contrast, and the enamel is prone to chipping, with intrinsic yellowish pigmentation.

Implications:

This study expands the spectrum of known MMP20 mutations associated with ARAI.
The observed phenotype provides further evidence for the critical role of enamelysin (MMP20) in enamel formation and mineralization.
Understanding these genetic underpinnings can aid in diagnosing and potentially managing amelogenesis imperfecta.