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Related Concept Videos

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
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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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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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Genetic Variation01:25

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
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Epistasis Analysis01:09

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Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
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Updated: Jul 31, 2025

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Molecular-based phenotype variations in amelogenesis imperfecta.

Jing Dong1,2, Wenyan Ruan1, Xiaohong Duan1

  • 1State Key Laboratory of Military Stomatology, Shaanxi Key Laboratory of Stomatology, Department of Oral Biology & Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, National Clinical Research Center for Oral Disease, The Fourth Military Medical University, Xi'an, China.

Oral Diseases
|May 8, 2023
PubMed
Summary
This summary is machine-generated.

Amelogenesis imperfecta (AI) is a genetic dental disease affecting tooth enamel. This review compares AI phenotypes with and without syndromes, linking specific enamel defects to underlying genetic causes for better diagnosis.

Keywords:
amelogenesis imperfectaheterogeneitynonsyndromesyndrome

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Area of Science:

  • Dentistry
  • Genetics
  • Human Diseases

Background:

  • Amelogenesis imperfecta (AI) is a group of inherited dental disorders affecting enamel formation.
  • AI can occur independently (nonsyndromic) or as part of a broader genetic syndrome.
  • Understanding the genetic basis and phenotypic variations is crucial for diagnosis and management.

Purpose of the Study:

  • To compare phenotypic differences in hereditary enamel defects, both syndromic and nonsyndromic Amelogenesis imperfecta.
  • To identify and correlate underlying pathogenic genes with specific enamel defect phenotypes.
  • To enhance diagnostic capabilities for various forms of AI.

Main Methods:

  • Systematic literature search of PubMed using keywords related to Amelogenesis imperfecta and associated syndromes.
  • Analysis of articles with detailed clinical, radiographic, and genetic information on enamel phenotypes.
  • Comparative analysis of 18 nonsyndromic AI cases (17 genes) and 19 syndromic AI cases (26 genes).

Main Results:

  • Enamel defects were classified as hypoplastic or hypomineralized (hypomaturation/hypocalcification).
  • Significant heterogeneity in enamel phenotypes was observed, linked to specific genes, mutation types, and inheritance patterns.
  • Gene-specific enamel phenotypes serve as key indicators for diagnosing nonsyndromic and syndromic AI.

Conclusions:

  • The study highlights the diverse phenotypic spectrum of Amelogenesis imperfecta.
  • A strong correlation exists between specific genes and distinct enamel defect presentations.
  • Gene-specific phenotypes are valuable diagnostic markers for both isolated and syndromic forms of AI.