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Related Experiment Videos

Abnormal epidermal keratinization in the repeated epilation mutant mouse.

K A Holbrook, B A Dale, K S Brown

    The Journal of Cell Biology
    |February 1, 1982
    PubMed
    Summary
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    The radiation-induced mutation Repeated epilation (Er) in mice causes severe skin abnormalities and developmental defects in homozygous individuals. This genetic defect profoundly impacts epidermal differentiation, altering key proteins like filaggrin and keratin.

    Area of Science:

    • Developmental Biology
    • Genetics
    • Dermatology

    Background:

    • The Repeated epilation (Er) mutation in mice is an autosomal, incomplete dominant mutation induced by radiation.
    • Homozygous Er/Er mice exhibit embryonic lethality and severe skin abnormalities, including epidermal adhesion and hyperplasia.
    • Understanding the molecular basis of Er is crucial for insights into epidermal differentiation and developmental processes.

    Purpose of the Study:

    • To investigate the morphological and biochemical consequences of the Repeated epilation (Er) mutation on mouse skin development.
    • To identify the specific proteins affected by the Er mutation and their role in epidermal differentiation.
    • To elucidate the impact of the genetic defect on tissue architecture, cell structure, and developmental processes.

    Main Methods:

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    • Histological examination of skin from wild-type (+/+), heterozygous (Er/+), and homozygous (Er/Er) mice using light, scanning, and transmission electron microscopy.
    • Immunofluorescence studies using antiserum against filaggrin on Er/Er epidermis.
    • Biochemical analysis of epidermal extracts from different genotypes using radio- and immunolabeling techniques to separate and identify proteins.

    Main Results:

    • Er/Er mice displayed significant abnormalities in epidermal architecture, including fused orifices, adhered limbs, and hyperplastic epidermis that failed to differentiate terminally.
    • Microscopic analysis revealed wide intercellular spaces, few desmosomes, and presence of phagolysosomes in basal epidermal cells of Er/Er mice.
    • Biochemical analysis showed the absence of a 26.5-kDa histidine-rich protein (filaggrin) and altered keratin profiles in Er/Er mice, despite the presence of filaggrin precursors.

    Conclusions:

    • The Repeated epilation (Er) mutation causes a profound defect in epidermal differentiation, affecting key structural proteins like filaggrin and keratin.
    • Abnormalities observed at pre-keratinization stages suggest a defect in a fundamental regulatory step controlling differentiation and development.
    • The study highlights the critical role of filaggrin and keratin in normal skin development and tissue integrity.