PMID: 8601736Feb 1, 1996Paper

Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex

The Journal of Investigative Dermatology
Y M ChanE Fuchs

Abstract

The epidermis serves an important protective function, which it manifests by producing an extensive cytoskeletal architecture, the unique feature of which are keratin filaments. Through studies that began with epidermolysis bullosa simplex (EBS) and now extend to a group of autosomal dominant human blistering skin disorders it was discovered that defects in the keratin genes lead to cell fragility and degeneration upon mechanical trauma. In most cases of EBS, point mutations occur in the keratin 5 (K5) and K14 genes expressed in the basal layer of the epidermis. The precise location of the mutation and the degree to which it causes perturbations in filament assembly correlate with disease severity. In the present study, we examine a case of EBS, which clinically lies at the severe end of the spectrum of Dowling-Meara EBS and which shows keratin filament clumping in suprabasal as well as basal cells. We show that one of the two K14 alleles has a single point substitution, giving rise to a Y129D mutation. This mutation resides 4 residues internal to the R125C/H hotspot known to account for the majority of Dowling-Meara cases. We provide functional and structural evidence to suggest why the Y129D mutation may be capable of creatin...Continue Reading

References

May 1, 1992·The British Journal of Dermatology·J A McGrathR A Eady
Jul 1, 1990·The Journal of Cell Biology·P A Coulombe, E Fuchs
Mar 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·D MarchukE Fuchs
Jan 1, 1994·The Journal of Investigative Dermatology·J A RothnagelD R Roop
May 1, 1994·The Journal of Cell Biology·E Fuchs
May 1, 1995·The Journal of Investigative Dermatology·P EhrlichK Stephens
Apr 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·A LetaiE Fuchs
Aug 1, 1993·The Journal of Investigative Dermatology·K StephensA Spencer
Aug 1, 1993·Proceedings of the National Academy of Sciences of the United States of America·Y M ChanE Fuchs
Jan 1, 1994·Annual Review of Biochemistry·E Fuchs, K Weber
Sep 1, 1994·Trends in Cell Biology·E FuchsQ C Yu

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Citations

Feb 28, 2004·Experimental Dermatology·Márta CsikósSarolta Kárpáti
Mar 29, 2000·The British Journal of Dermatology·H M Horn, M J Tidman
Jul 26, 2003·Journal of Biomedical Optics·Robert J Werrlein, Janna S Madren-Whalley
Oct 14, 2006·The Journal of Investigative Dermatology·Elizabeth L RuggE Birgitte Lane

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