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Incomplete Dominance

Incomplete Dominance

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.

Pleiotropy

Pleiotropy

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Genomic Imprinting and Inheritance

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Background and Environment Affect Phenotype

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Related Experiment Video

Updated: Mar 15, 2026

Micro-dissection of Enamel Organ from Mandibular Incisor of Rats Exposed to Environmental Toxicants

Micro-dissection of Enamel Organ from Mandibular Incisor of Rats Exposed to Environmental Toxicants

Published on: March 29, 2018

Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes.

M K Prasad¹, S Laouina², M El Alloussi²

¹Laboratoire de Génétique Médicale, INSERM U1112, Institut de Génétique Médicale d'Alsace, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France.

Journal of Dental Research

|August 26, 2016

Summary

This study identifies novel genetic mutations in COL17A1 and C4orf26 genes causing different types of Amelogenesis Imperfecta (AI) in a Moroccan family. The findings reveal genetic heterogeneity in AI, even within a single family.

Keywords:

enamel enamel biomineralization/formation genetics genomics molecular genetics tooth development

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Last Updated: Mar 15, 2026

Micro-dissection of Enamel Organ from Mandibular Incisor of Rats Exposed to Environmental Toxicants

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Published on: March 29, 2018

In Vivo Modeling of the Morbid Human Genome using Danio rerio

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Published on: August 24, 2013

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Area of Science:

Dentistry
Human Genetics
Molecular Biology

Background:

Amelogenesis imperfecta (AI) is a group of inherited dental disorders affecting tooth enamel formation.
AI exhibits significant clinical and genetic heterogeneity, complicating diagnosis and treatment.
Understanding the genetic basis of AI is crucial for developing targeted therapies.

Observation:

A large consanguineous Moroccan family presented with diverse clinical subtypes of Amelogenesis Imperfecta (AI).
Individuals within the family displayed varying degrees of hypoplastic and hypomineralized enamel defects.
Next-generation sequencing was employed to investigate the genetic underpinnings of AI in this cohort.

Findings:

A novel heterozygous nonsense mutation in the COL17A1 gene was identified, segregating with hypoplastic AI.
A novel homozygous 8-bp deletion in the C4orf26 gene was found to segregate with hypomineralized-hypoplastic AI.
Distinct mutations in COL17A1 and C4orf26 were correlated with specific AI phenotypes within the family.

Implications:

This study underscores the significant phenotypic and genotypic heterogeneity of AI, even within a single family.
The identification of novel mutations provides new insights into the molecular mechanisms of amelogenesis.
Further research into COL17A1 and C4orf26 will enhance our understanding of AI pathophysiology and inform genetic counseling.