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Lethal Alleles

Lethal Alleles

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...

The Retinoblastoma Gene

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

Mutations

Mutations

Translation

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...

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.

Epistasis Analysis

Epistasis Analysis

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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Related Experiment Video

Updated: May 31, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

[Frameshift mutation in RELT gene causes amelogenesis imperfecta].

Zhenwei Zhang^1,2, Xinran Xu¹, Xuejun Gao¹

¹Department of Cariology and Endodontology, Peking University School and Hospital of Stomatology & National Center for Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices, Beijing 100081, China.

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences

|January 24, 2025

Summary

A novel frameshift mutation in the RELT gene was identified in a Chinese family with amelogenesis imperfecta (AI). This genetic finding provides crucial insights into the molecular basis of AI and aids in genetic counseling.

Keywords:

Amelogenesis imperfecta Enamel mineralization Frameshift mutation RELT gene

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Last Updated: May 31, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Published on: April 4, 2018

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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

Area of Science:

Genetics
Molecular Biology
Dental Science

Context:

Amelogenesis imperfecta (AI) is a group of inherited disorders affecting tooth enamel formation.
Genetic factors play a significant role in the etiology of AI.
Understanding the genetic basis of AI is crucial for diagnosis and treatment.

Purpose:

To identify the genetic cause of amelogenesis imperfecta in a Chinese family.
To analyze the genotype-phenotype correlation of the identified mutation.
To investigate the functional impact of the mutation on the RELT protein.

Summary:

Whole exome sequencing identified a homozygous frameshift mutation (c.1169_1170del) in the RELT gene in a Chinese proband with hypocalcified AI.
The mutation, predicted to be pathogenic, leads to premature protein termination and dysfunction.
This finding expands the spectrum of RELT mutations associated with AI and highlights its role in enamel development.

Impact:

Provides molecular evidence for the role of RELT in amelogenesis imperfecta.
Facilitates genetic counseling, prenatal diagnosis, and early management of AI.
Opens avenues for further research into the molecular mechanisms of enamel formation.