Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix

    April 2001 in “ Journal of Investigative Dermatology ”
    Eli Sprecher, Christopher J. Miller, Gabriele Richard, Akemi Ishida‐Yamamoto, Oren M. Becker, Lyuben N. Marekov, Peter M. Steinert, Kenneth H. Neldner
    TLDR The keratin tail is crucial for skin structure and function.
    The study examined a mutation in the keratin 1 (KRT1) gene in a three-generation African-American family, leading to Ichthyosis Hystrix Curth-Macklin (IHCM), a severe skin disorder. This mutation caused a frameshift in the V2 domain, resulting in a truncated protein tail that disrupted keratin intermediate filament organization and loricrin translocation, crucial for skin differentiation and barrier formation. The mutation altered the chemical properties of the protein, transforming the V2 domain from hydrophilic to hydrophobic, which affected the cornified cell envelope formation. This research provided the first in vivo evidence of the keratin tail domain's importance in keratin filament organization and highlighted its role in skin structure and pathology.
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