A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex
Details
Serval ID
serval:BIB_4AD666EF3E62
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex
Journal
Nature Genetics
ISSN
1061-4036 (Print)
Publication state
Published
Issued date
04/1993
Volume
3
Number
4
Pages
327-32
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Apr
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Apr
Abstract
Epidermolysis bullosa simplex (EBS) is a group of epidermal blistering diseases almost invariably transmitted as a dominant trait, which has recently been shown to arise from mutations in keratins 14 and 5 (K14 and K5). We describe a family with recessive EBS in which the disease is tightly linked to the substitution of the highly conserved glutamic acid-144 to alanine in the first helical segment of the rod domain of keratin 14. In contrast, linkage with keratin 5 was excluded. The loss of an ionic interaction with keratin 5 is likely to affect K14-K5 heterodimer formation. Our data suggest that this mutation underlies EBS in our family, and that mutations in keratin genes may impair the mechanical integrity of basal keratinocytes in a recessive as well as dominant fashion.
Keywords
Alanine
Amino Acid Sequence
Base Sequence
Cells, Cultured
Conserved Sequence
DNA Primers
Epidermolysis Bullosa/*genetics
Female
Genes, Dominant
*Genes, Recessive
Glutamic Acid
Humans
Keratinocytes/metabolism/pathology
Keratins/chemistry/*genetics
Linkage (Genetics)
Macromolecular Substances
Male
Molecular Sequence Data
Polymerase Chain Reaction
Protein Structure, Secondary
Skin/metabolism/pathology
Pubmed
Web of science
Create date
28/01/2008 9:41
Last modification date
20/08/2019 14:58