Genetically Separable Determinants of Hair Keratin Gene Expression

    January 2000 in “ Developmental Dynamics ”
    Michael Schorpp, Thomas Schlake, Darren Kreamalmeyer, Paul M. Allen, Thomas Boehm
    TLDR Mutations in the Whn gene affect hair keratin gene expression differently.
    The study explored the genetic determinants of hair keratin gene expression using the nude mouse model, focusing on the Whn (Foxn1) transcription factor. A new nude allele, nuStL, was identified, which retained the DNA binding domain but lacked the activation domain, leading to hairlessness and athymia in homozygous mice. This mutation caused a frame-shift in the Whn gene, abolishing its transactivation function and reducing the expression of certain hair keratin genes, particularly mHa5. The research highlighted the complexity of hair keratin gene regulation and suggested that different nude alleles have unique molecular effects, emphasizing the need for further research to understand the specific contributions of individual hair keratin genes to hair structure.
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