Skip Navigation

This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (34)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Rothnagel, J. A.
Right arrow Articles by Roop, D. R.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Rothnagel, J. A.
Right arrow Articles by Roop, D. R.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© 1993 Oxford University Press

OTHER

A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis

Joseph A. Rothnagel1,2, Monte P. Fisher1, Shelli M. Axtell1, Mark R. Pittelkow3, Ingrun Anton-Lamprecht4, Marcel Huber5, Daniel Hohl5 and Dennis R. Roop1,2,*

1Department of Cell Biology, Baylor College of Medicine One Baylor Plaza, Houston, TX 77030, USA 2Department of Dermatology, Baylor College of Medicine One Baylor Plaza, Houston, TX 77030, USA 3Department of Dermatology, Mayo Clinic Rochester, MN, USA 4Department of Dermatology, Ruprecht-Karis University D-6900, HeideJberg, Germany 5Department of Dermatology, CHUV, Hopital Belmont Lausanne, Switzerland

*To whom correspondence should be addressed

Received July 28, 1993; Revised September 22, 1993; Accepted October 11, 1993

Epidermolytic hyperkeratosis (EHK), (bullous congenital ichthyosiform erythroderma), is an autosomal dominant human skin disorder. Recently, we and others have described mutations in keratins 1 and 10 (K1 and K10) in patients with this disease. Structure-function models predict that these mutations would impair normal filament assembly and function. We have extended our earlier studies to include 8 more incidences of EHK. In half of these families, we were unable to locate a mutation within the rod domains of either K1 or K10. However, polymorphic restriction site and sequence analysis of the other families revealed a mutational hot spot within the 1A alpha-helical segment of K10. These involve Arginine to Histidine, Arginine to Cysteine and Arginine to Leucine substitutions at residue 10 of the rod domain. Interestingly, mutations in the corresponding Arginine residue in keratin K14 have been identified in patients with epidermolysis bullosa simplex. The large number of mutations found at this position in both keratins K10 and K14 suggests that other epithelia cell disorders will be discovered that are caused by the corresponding mutation in related type I keratin genes.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Arch DermatolHome page
R. A. Guardiano, M. Ryan, and E. A. Liotta
Bullae in a 20-Year-Old Man
Arch Dermatol, November 1, 2001; 137(11): 1521 - 1526.
[Full Text] [PDF]

Home page
 JCBHome page
M. J. Arin, M. A. Longley, X.-J. Wang, and D. R. Roop
Focal Activation of a Mutant Allele Defines the Role of Stem Cells in Mosaic Skin Disorders
J. Cell Biol., February 5, 2001; 152(3): 645 - 650.
[Abstract] [Full Text] [PDF]

Home page
 NEJMHome page
A. S. Paller, A. J. Syder, Y.-M. Chan, Q.-C. Yu, E. Hutton, G. Tadini, and E. Fuchs
Genetic and Clinical Mosaicism in a Type of Epidermal Nevus
N. Engl. J. Med., November 24, 1994; 331(21): 1408 - 1415.
[Abstract] [Full Text]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.