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Lethal Alleles02:41

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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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Mice have long served as models for studying human biology and pathology because of their phylogenetic and physiological similarity with humans. They are also easy to maintain and breed in the laboratory, and hence, many inbred strains are now available for research. Studies on mice have contributed immeasurably to our understanding of cancer biology.
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Updated: Jan 4, 2026

Recessive Lethal Alleles Cause Genetic Disorders in Humans
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Human adipocyte cholesterol. Concentration, localization, synthesis, and turnover.

P H Schreibman, R B Dell

    The Journal of Clinical Investigation
    |May 1, 1975
    PubMed
    Summary

    Human adipocyte cholesterol levels correlate with fat cell size, not plasma cholesterol. Excess cholesterol synthesis in obesity may originate from liver or intestinal sites, not adipose tissue.

    Area of Science:

    • Biochemistry
    • Metabolic Research
    • Cell Biology

    Background:

    • Adipocyte cholesterol concentration is linked to fat cell size but not plasma cholesterol.
    • Cholesterol metabolism in obesity is not fully understood, with potential synthesis sites debated.

    Purpose of the Study:

    • To investigate the relationship between adipocyte cholesterol concentration, fat cell size, and plasma cholesterol.
    • To determine the site of increased cholesterol synthesis observed in obesity.

    Main Methods:

    • Analysis of 124 human adipocyte specimens from 16 patients.
    • Subcellular fractionation to determine cholesterol distribution within adipocytes.
    • In vivo studies using radioactive cholesterol and in vitro studies with radioactive glucose/acetate in isolated fat cells.

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    Main Results:

    • Adipocyte cholesterol concentration strongly correlates with fat cell size, independent of plasma cholesterol.
    • 88% of adipocyte cholesterol is found in the triglyceride-rich supernatant, linked to triglyceride content.
    • In vivo data suggests a slowly turning over cholesterol pool in adipocytes, while in vitro synthesis in adipose tissue is minimal.
    • Excess cholesterol synthesis in obesity is unlikely to occur in adipose tissue itself.

    Conclusions:

    • Adipocyte cholesterol content is primarily determined by triglyceride accumulation and fat cell size.
    • Obesity-related excess cholesterol synthesis likely originates from hepatic or intestinal sources, not adipose tissue.
    • Further research into compartmental analysis and cholesterol kinetics is warranted.