Abstract |
Keratin 9 mutation was examined in a Japanese kindred of epidermolytic palmoplantar keratoderma (EPPK), which is a dominantly inherited autosomal disorder of keratinization characterized by diffuse thickening of the palms and soles and by epidermolytic hyperkeratosis histologically. We report herein a novel mutation, a C --> G transversion at nucleotide position 541 that converts a leucine residue (CTC) to a valine (GTC) at codon 159. As in all other reported cases of keratin 9 mutation in EPPK, this mutation lies within the highly conserved coil 1A of the rod domain, which is considered to play a role in the correct alignment of the coiled-coil molecules.
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Authors | H Endo, A Hatamochi, H Shinkai |
Journal | The Journal of investigative dermatology
(J Invest Dermatol)
Vol. 109
Issue 1
Pg. 113-5
(Jul 1997)
ISSN: 0022-202X [Print] United States |
PMID | 9204965
(Publication Type: Journal Article)
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Chemical References |
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Topics |
- Amino Acid Sequence
- Conserved Sequence
- Female
- Humans
- Hyperkeratosis, Epidermolytic
(genetics)
- Japan
- Keratins
(chemistry, genetics)
- Keratoderma, Palmoplantar
(genetics)
- Leucine
(genetics)
- Male
- Pedigree
- Point Mutation
- Protein Structure, Tertiary
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