NDLI: The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.

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The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Yu, Q. C. Fine, J. D. Fuchs, E. Chan, Y. M.
Description	Author Affiliation: Chan YM ( Howard Hughes Medical Institute, Department of Molecular Genetics and Cell Biology, University of Chicago, IL 60637.);
Abstract	Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant skin diseases characterized by blistering, due to mechanical-stress-induced degeneration of basal epidermal cells. Recently, it was discovered that the more severe types, Dowling-Meara and Koebner, are genetic disorders of the basal epidermal keratins, keratin 5 (K5) and keratin 14 (K14). Here, we show that the mildest type of EBS, Weber-Cockayne, is also a disorder of these keratins. Affected members of two unrelated families with Weber-Cockayne EBS had a T-->G point mutation in the second base position of codon 161 of one of two K5 alleles, leading to an Ile-->Ser mutation. This mutation was not present in unaffected members or in 156 alleles from normal individuals. Linkage analyses mapped the defect to the type II keratin gene cluster on chromosome 12q11-q13 (peak logarithm of odds score at theta = 0 of 3.0), providing strong additional evidence that this mutation is responsible for the Weber-Cockayne EBS phenotype. Conserved among type II keratins, Ile-161 is in the nonhelical head domain of K5, a region previously shown to be important for 10-nm filament assembly. The mutation generates a potential substrate site for protein kinase C, which could influence intermediate filament architecture, perhaps leading to the intrafilament association seen ultrastructurally in patients with the mutation.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	15
Volume Number	90
Language	English
Publisher	National Academy of Sciences
Publisher Date	1993-09-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Epidermolysis Bullosa Simplex Genetics Keratins Amino Acid Sequence Chromosomes, Human, Pair 12 Molecular Sequence Data Oligodeoxyribonucleotides Chemistry Pedigree Point Mutation Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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