Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation

FEBS Letters

Matsuyoshi, Norihisa¹  Kobayashi, Setsu¹  Tanaka, Toshihiro¹  Imamura, Sadao¹ 

[1] Department of Dermatology, Graduate School of Medicine, Kyoto University, Kyoto, 606 Japan

关键词: Keratin 9;    Epidermolytic hereditary palmoplantar keratoderma;    Keratin intermediate filament;    Point mutation;    Transfection;    EHPPK;    epidermolytic hereditary palmoplantar keratoderma;    IF;    intermediate filament;    K9;    keratin 9;    PCR;    polymerase chain reaction;    HA;    hemagglutinin protein of influenza;    K14;    keratin 14;    EBS;    epidermolysis bullosa simplex;   

DOI  :  10.1016/0014-5793(96)00393-6

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

Keratins form an intracellular keratin filament network in keratinocytes. Point mutations in the epidermal keratins could lead to the disruption of keratin filament formation, developing skin diseases such as epidermolytic hereditary palmoplantar keratoderma (EHPPK). We found a G to A transition in keratin 9 (K9) cDNA, resulting in the substitution of glutamine for arginine at 162, in all patients of a pedigree of EHPPK. Transfection into MDCK cells and DJM-1 cells revealed that the plasmid CMX vector containing normal keratin 9 cDNA showed normal keratin network formation, whereas the vector with a G to A point mutated keratin 9 cDNA showed disrupted keratin filaments with droplet formation in the cells. These results indicate that the point mutation seen in our patients had a dominant-negative effect on keratin network formation.

【 授权许可】

Unknown