FIGURE 4
FROM:
Mutation S233L in the 1B Domain of Keratin 1 Causes Epidermolytic Palmoplantar Keratoderma with "Tonotubular" Keratin
Ana Terron-Kwiatkowski, Maurice A M van Steensel, Michel van Geel, E Birgitte Lane, W H Irwin McLean and Peter M Steijlen
BACK TO ARTICLEFigure 4.
The 1B domain mutation is detrimental to filament formation in cultured cells. (a) HaCaT cells were transfected with K1 or K5 wild-type and 1B mutant GFP constructs. At 72 hours after transfection, keratin filaments of essentially normal morphology were observed in cells transfected with all constructs, as shown here with wild-type K1. (b) At shorter times following transfection, cells with prominent, punctuate aggregates were also present in all transfection experiments, exemplified here by K1 mutant S233L, at 48 hours post-transfection. Higher percentages of aggregates were observed with both K1 and K5 mutants compared to their wild-type controls, indicative of the pathogenicity of this mutation in the 1B domain.
