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Related Concept Videos

Lethal Alleles02:41

Lethal Alleles

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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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Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
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Translation01:31

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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.
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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.
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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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Novel Biallelic LIG3 Mutations Causing Lethal Phenotype With Immunodeficiency.

Gonench Kilich1, Tanaya Jadhav2, Kelly Maurer1

  • 1Division of Allergy Immunology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

American Journal of Medical Genetics. Part A
|February 25, 2026
PubMed
Summary
This summary is machine-generated.

Researchers identified novel LIG3 gene variants in a child with severe neurological and developmental issues. This finding expands the known LIG3 deficiency phenotype to include immune and endocrine problems.

Area of Science:

  • Genetics
  • Molecular Biology
  • Neurology

Background:

  • Pathogenic biallelic variants in LIG3 cause Mitochondrial DNA Depletion Syndrome 20.
  • The syndrome presents with variable expression and severity, often involving neurological symptoms.
Keywords:
LIG3 genegenome reanalysisimmunodeficiencymitochondrial disease

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