Publication Date:
1991-12-02
Description:
Epidermolysis bullosa simplex (EBS) is characterized by skin blistering due to basal keratinocyte fragility. In one family studied, inheritance of EBS is linked to the gene encoding keratin 14, and a thymine to cytosine mutation in exon 6 of keratin 14 has introduced a proline in the middle of an alpha-helical region. In a second family, inheritance of EBS is linked to loci that map near the keratin 5 gene. These data indicate that abnormalities of either of the components of the keratin intermediate filament heterodipolymer can impair the mechanical stability of these epithelial cells.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Bonifas, J M -- Rothman, A L -- Epstein, E H Jr -- R01-AR28069/AR/NIAMS NIH HHS/ -- R01-AR39953/AR/NIAMS NIH HHS/ -- New York, N.Y. -- Science. 1991 Nov 22;254(5035):1202-5.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Dermatology, San Francisco General Hospital, University of California 94110.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/1720261" target="_blank"〉PubMed〈/a〉
Keywords:
Base Sequence
;
Chromosomes, Human, Pair 12
;
Chromosomes, Human, Pair 17
;
Epidermolysis Bullosa Simplex/*genetics
;
Genes
;
Genetic Linkage
;
Humans
;
Keratins/*genetics
;
Molecular Sequence Data
;
Oligonucleotides/chemistry
;
Pedigree
;
Polymerase Chain Reaction
;
Polymorphism, Restriction Fragment Length
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
