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Related Concept Videos

Lethal Alleles02:41

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Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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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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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Related Experiment Video

Updated: Nov 9, 2025

Micro-dissection of Enamel Organ from Mandibular Incisor of Rats Exposed to Environmental Toxicants
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A novel ENAM mutation causes hypoplastic amelogenesis imperfecta.

Shunlan Yu1, Chenying Zhang1, Ce Zhu1

  • 1Department of Preventive Dentistry, National Clinical Research Center for Oral Diseases, National Engineering Laboratory for Digital and Material Technology of Stomatology, Beijing Key Laboratory of Digital Stomatology, Peking University School and Hospital of Stomatology, Beijing, China.

Oral Diseases
|April 17, 2021
PubMed
Summary

A novel mutation in the enamelin (ENAM) gene caused hypoplastic amelogenesis imperfecta (AI) in a Chinese family. This genetic finding expands our understanding of ENAM gene function in tooth enamel development.

Keywords:
ENAMamelogenesis imperfectahypoplasticmutation

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Area of Science:

  • Genetics
  • Oral Biology
  • Biochemistry

Background:

  • Amelogenesis imperfecta (AI) is a group of inherited disorders affecting tooth enamel formation.
  • Hypoplastic AI is characterized by thin, hard, and often discolored enamel.
  • Identifying the genetic basis of AI is crucial for understanding enamel development and potential therapeutic targets.

Purpose of the Study:

  • To determine the genetic cause of hypoplastic AI in a Chinese family.
  • To investigate the genotype-phenotype correlation of the identified genetic defect.

Main Methods:

  • Clinical examination of affected individuals.
  • Scanning electron microscopy of deciduous teeth.
  • Whole-exome sequencing and Sanger sequencing for mutation identification.
  • Bioinformatics analysis to predict the functional impact of the mutation.

Main Results:

  • A novel homozygous nonsense mutation (c.2078C>G) in the enamelin (ENAM) gene was identified in the proband.
  • The mutation leads to a predicted truncated ENAM protein (p.(Ser693*)).
  • Heterozygous parents exhibited variable expressivity, ranging from no penetrance to mild enamel defects, suggesting complex inheritance patterns or modifier effects.

Conclusions:

  • The identified homozygous ENAM mutation is the cause of hypoplastic AI in this family.
  • This study provides new genetic evidence linking ENAM gene mutations to hypoplastic AI.
  • The findings highlight the critical role of the ENAM gene in proper enamel formation.