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

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Ressource 1Download: serval:BIB_CC1AD796C076.P001 (1594.21 [Ko])
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Serval ID
serval:BIB_CC1AD796C076
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis
Journal
Human Molecular Genetics
Author(s)
Rothnagel  J. A., Fisher  M. P., Axtell  S. M., Pittelkow  M. R., Anton-Lamprecht  I., Huber  M., Hohl  D., Roop  D. R.
ISSN
0964-6906 (Print)
Publication state
Published
Issued date
12/1993
Volume
2
Number
12
Pages
2147-50
Notes
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S. --- Old month value: Dec
Abstract
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.
Keywords
Amino Acid Sequence *Arginine Base Sequence DNA Primers Hyperkeratosis, Epidermolytic/*genetics Keratins/chemistry/*genetics Molecular Sequence Data *Point Mutation Polymerase Chain Reaction *Polymorphism, Genetic Protein Structure, Secondary
Pubmed
Web of science
Open Access
Yes
Create date
25/01/2008 17:36
Last modification date
01/10/2019 7:19
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