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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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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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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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When crossing pea plants, Mendel noticed that one of the parental traits would sometimes disappear in the first generation of offspring, called the F1 generation, and could reappear in the next generation (F2). He concluded that one of the traits must be dominant over the other, thereby causing masking of one trait in the F1 generation. When he crossed the F1 plants, he found that 75% of the offspring in the F2 generation had the dominant phenotype, while 25% had the recessive phenotype.
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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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Lethal phenotypes in Mendelian disorders.

Pilar Cacheiro1, Samantha Lawson2, Ignatia B Van den Veyver3

  • 1William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|April 17, 2024
PubMed
Summary
This summary is machine-generated.

This study catalogs human essential genes based on lethal phenotypes, revealing differences between human and mouse models. The Lethal Phenotypes Portal aids in diagnosing early lethal conditions and understanding gene essentiality.

Keywords:
Essential genesLethal mouse knockoutsLethal phenotypesMendelian disordersNovel gene discovery

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Area of Science:

  • Genetics
  • Developmental Biology
  • Human Physiology

Background:

  • Existing gene essentiality resources rely on cell proliferation, mouse knockouts, or population sequencing.
  • Comprehensive reporting on lethal phenotypes is lacking in current genetic databases.

Purpose of the Study:

  • To create a comprehensive catalog of human essential genes based on lethal phenotypes.
  • To aid clinicians in diagnosing early lethal conditions and researchers in understanding gene essentiality.

Main Methods:

  • Queried Online Mendelian Inheritance in Man for lethality terms.
  • Classified Mendelian genes by the earliest recorded age of death for associated disorders.
  • Examined gene viability evidence from mouse models.

Main Results:

  • Developed the Lethal Phenotypes Portal, a curated catalog of human essential genes.
  • Identified differences in inheritance mode, affected systems, and disease class across lethality categories.
  • Observed discrepancies between lethal phenotypes in mouse models and human data.

Conclusions:

  • The Lethal Phenotypes Portal will assist in diagnosing early lethal conditions.
  • This resource will support research into the properties that define essential human developmental genes.