title: Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q.
abstract: 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.
authors.affiliation: Skin Biology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892.
authors.forename: J G
authors.initials: JG
authors.lastname: Compton
authors.forename: J J
authors.initials: JJ
authors.lastname: DiGiovanna
authors.forename: S K
authors.initials: SK
authors.lastname: Santucci
authors.forename: K S
authors.initials: KS
authors.lastname: Kearns
authors.forename: C I
authors.initials: CI
authors.lastname: Amos
authors.forename: D L
authors.initials: DL
authors.lastname: Abangan
authors.forename: B P
authors.initials: BP
authors.lastname: Korge
authors.forename: O W
authors.initials: OW
authors.lastname: McBride
authors.forename: P M
authors.initials: PM
authors.lastname: Steinert
authors.forename: S J
authors.initials: SJ
authors.lastname: Bale
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D004276:DNA, Satellite / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics* / Q000473:pathology; D007633:Keratins / Q000235:genetics*; D008126:Lod Score; D008297:Male; D008969:Molecular Sequence Data; D005810:Multigene Family; D009838:Oligodeoxyribonucleotides; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D012867:Skin / Q000473:pathology
chemical_list: D004276:DNA, Satellite; D005819:Genetic Markers; D009838:Oligodeoxyribonucleotides; D007633:Keratins; D004247:DNA