A Splice Site Mutation in the Human Type I Hair Keratin Gene hHa1 Results in the Expression of a Tailless Keratin Isoform

    December 1997 in “ Journal of Biological Chemistry ”
    Hermelita Winter, Ilse Hofmann, Lutz Langbein … Jürgen Schweizer
    Studysummary This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.
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    Research cited in this study 18

    1. Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix Nature Genetics · 1997
    2. Sequences and Differential Expression of Three Novel Human Type-II Hair Keratins Differentiation · 1997
    3. Electrophoretic Variation of Hair Proteins PubMed · 1996
    4. Genomic Characterization of the Human Type I Cuticular Hair Keratin hHa2 and Identification of an Adjacent Novel Type I Hair Keratin Gene hHa5 Journal of Investigative Dermatology · 1996
    5. Sequence Data and Chromosomal Localization of Human Type I and Type II Hair Keratin Genes Experimental Cell Research · 1995
    6. A cDNA Encoding the Human Type I Hair Keratin hHa1 Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression · 1995
    7. A Novel Human Type I Hair Keratin Gene: Evidence For Two Keratin HHa3 Isoforms Molecular Biology Reports · 1995
    8. Formation and Structure of Human Hair Birkhäuser Basel eBooks · 1995
    9. Sequence and Expression of Human Hair Keratin Genes Journal of Dermatological Science · 1994
    10. Sequence and Expression of Murine Type I Hair Keratins mHa2 and mHa3 Experimental Cell Research · 1994
    11. Human Hair Keratins Journal of Investigative Dermatology · 1993
    12. Hair Follicle Differentiation: Expression, Structure, and Evolutionary Conservation of the Hair Type II Keratin Intermediate Filament Gene Family Development · 1992
    13. Differential Expression of Type I Hair Keratins Journal of Investigative Dermatology · 1990
    14. Cloning And Characterization Of A Mouse Type I Hair Keratin cDNA Journal of Investigative Dermatology · 1988
    15. Patterns of Expression of Trichocytic and Epithelial Cytokeratins in Mammalian Tissues II: Concomitant and Mutually Exclusive Synthesis of Trichocytic and Epithelial Cytokeratins in Diverse Human and Bovine Tissues (Hair Follicle, Nail Bed and Matrix, Lingual Papilla, Thymic Reticulum) Differentiation · 1988
    16. Patterns of Expression of Trichocytic and Epithelial Cytokeratins in Mammalian Tissues: Human and Bovine Hair Follicles Differentiation · 1988
    17. Acidic and Basic Hair/Nail (Hard) Keratins: Their Colocalization in Upper Cortical and Cuticle Cells of the Human Hair Follicle and Their Relationship to Soft Keratins ˜The œjournal of cell biology/˜The œJournal of cell biology · 1986
    18. Frequency of an Electrophoretic Variant of Hair Alpha Keratin in Human Populations PubMed · 1977

    Related research 3

    1. Keratin Intermediate Filaments in the Colon: Guardians of Epithelial Homeostasis International journal of biochemistry & cell biology · 2020
    2. Structure and Site of Expression of a Murine Type II Hair Keratin Molecular Biology Reports · 1992
    3. Keratin 19: Predicted Amino Acid Sequence and Broad Tissue Distribution Suggest It Evolved from Keratinocyte Keratins Journal of Investigative Dermatology · 1989