Nature Genetics
1, 301 - 305 (1992)
doi:10.1038/ng0792-301
Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12qJohn G. Compton1, John J. DiGiovanna2, Sandra K. Santucci1, Kathleen S. Kearns1, Christopher I. Amos1, Donita L. Abangan2, Bernhard P. Korge1, O. Wesley McBride3, Peter M. Steinert1
& Sherri J. Bale1
1Skin Biology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
2Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
3Laboratory of Biochemistry, Division of Cancer Biology and Diagnosis, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA We investigated the molecular genetics of epidermolytic hyperkeratosis (EHK), a dominant disorder characterized by epidermal blistering, hyperkeratosis, vacuolar degeneration and clumping of keratin filaments. Based on this pathology, we have excluded by linkage analysis several candidate genes for the disease; in contrast, complete linkage was obtained with the type II keratin, K1, on 12q11−q13. Linkage in this region of chromosome 12 was confirmed using several other markers, and multi−locus linkage analyses further supported this location. Keratins are excellent EHK gene candidates since their expression is specific to the suprabasal epidermal layers. In the pedigree studied here, a type II keratin gene, very probably K1, is implicated as the site of the molecular defect causing EHK.
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