A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex (original) (raw)

• Fine, J.-D. et al. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa: a consensus report by the subcommittee on diagnosis and classification of the national epidermolysis bullosa registry. J. Am. Acad. Dermatol. 24, 119–135 (1991).
  Article CAS Google Scholar
• Lin, A.N. & Carter, D.M. in Epidermolysis Bullosa: Basic and Clinical Aspects (eds Lin, A.N. & Garter, D.M.) 89–117 (Springer Verlag, New York, 1992).
  Google Scholar
• Bonifas, J.M., Rothman, A.L. & Epstein, E.H., Jr. Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. Science 254, 1202–1205 (1991).
  Article CAS Google Scholar
• Coulombe, P.A. et al. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. Cell 66, 1301–1311 (1991).
  Article CAS Google Scholar
• Lane, E.B. et al. A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature 356, 244–246 (1992).
  Article CAS Google Scholar
• Romano, V. et al. Chromosomal assignments of human type I and type II cytokeratin genes to different chromosomes. Cytogenet. Cell Genet. 48, 148–151 (1988).
  Article CAS Google Scholar
• Ryynänen, M., Knowiton, R.G. & Uitto, J. Mapping of epidermolysis bullosa simplex mutation to chromosome 12. Am. J. hum. Genet. 49, 978–984 (1991).
  PubMed PubMed Central Google Scholar
• Vassar, R., Coulombe, P.A., Degenstein, L., Albers, K. & Fuchs, E. Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease. Cell 64, 365–380 (1991).
  Article CAS Google Scholar
• Coulombe, P.A., Hutton, M.E., Vassar, R. & Fuchs, E. A function for keratins and a common thread among different types of epidermolysis bullosa simplex diseases. J. cell Biol. 115, 1661–1674 (1991).
  Article CAS Google Scholar
• Coulombe, P.A., Chan, Y.-M., Albers, K. & Fuchs, E. Deletions in epidermal keratins leading to alterations in filament organization in vivo and in intermediate filament assembly in vitro. J. cell Biol. 111, 3049–3064 (1990).
  Article CAS Google Scholar
• Letai, A., Coulombe, P.A. & Fuchs, E. Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations. J. cell Biol. 116, 1181–1195 (1992).
  Article CAS Google Scholar
• Epstein, E.H., Jr. Molecular genetics of epidermolysis bullosa. Science 256, 799–803 (1992).
  Article CAS Google Scholar
• Fuchs, E. & Coulombe, P.A. Of mice arid men: genetic skin diseases of keratin. Cell 69, 899–902 (1992).
  Article CAS Google Scholar
• Salih, M.A.M., Lake, B.D., El Hag, M.A. & Atherton, D.J. Lethal epidermolytic epidermolysis bullosa: a new autosomal recessive type of epidermolysis bullosa. Br. J. Dermatol. 113, 135–143 (1985).
  Article CAS Google Scholar
• Nielsen, P.G. & Sjolund, E. Epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders: a new syndrome. Acta Derm. Veneorol. 65, 526–530 (1985).
  Google Scholar
• Niemi, K.-M., Sommer, H., Kero, M., Kanerva, L. & Haltia, M. Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance. Arch. Dermatol. 124, 551–554 (1988).
  Article CAS Google Scholar
• Fine, J.-D. et al. Autosomal recessive epidermolysis bullosa simplex. Arch. Dermatol. 125, 931–938 (1989).
  Article CAS Google Scholar
• Fine, J.-D., Johnson, L., Wright, T. & Horiguchi, Y. Epidermolysis bullosa simplex: identification of a kindred with autosomal recessive transmission of the Weber-Cockayne variety. Ped. Dermatol. 6, 1–5 (1989).
  Article CAS Google Scholar
• Rosenfeld, P.J. et al. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nature Genet. 1, 209–213 (1992).
  Article CAS Google Scholar
• Marchuk, D., McCrohon, S. & Fuchs, E. Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene. Proc. natn Acad. Sci. U.S.A. 82, 1609–1613 (1985).
  Article CAS Google Scholar
• Marchuk, D., McCrohon, S. & Fuchs, E. Remarkable conservation of structure among intermediate filament genes. Cell 39, 491–498 (1984).
  Article CAS Google Scholar
• Korge, B.P. et al. Extensive size polymorphism of the human keratin 10 chain resides in the C-terminal V2 subdomain due to variable numbers and sizes of glycine loops. Proc. natn. Acad. Sci. U.S.A. 89, 910–914 (1992).
  Article CAS Google Scholar
• Rosenberg, M., Raychaudhury, A., Shows, T.B., LeBeau, M.M. & Fuchs, E. A group of type I keratin genes on human chromosome 17: characterization and expression. Molec. cell Biol. 8, 722–736 (1988).
  Article CAS Google Scholar
• Lander, E.S. & Bostein, D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236, 1567–1570 (1987).
  Article CAS Google Scholar
• Compton, J.G. et al. Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q. Nature Genet. 1, 301–305 (1992).
  Article CAS Google Scholar
• Lee, L.D. & Baden, H.P. Organization of the polypeptide chains in mammalian keratin. Nature 264, 377–379 (1976).
  Article CAS Google Scholar
• Parry, D.A.D., Crewther, W.G., Fraser, R.D.B. & McRae, T.P. Structure of α-keratin: structural implication of the amino acid sequences of the type I and type II chain segments. J. molec. Biol. 113, 449–454 (1977).
  Article CAS Google Scholar
• Mc Lachlan, A.D. Coiled-coil formation and sequence regularities in the helical regions of α-keratins. J. molec. Biol. 124, 297–304 (1978).
  Article CAS Google Scholar
• Fuchs, E.V., Coppock, S.M., Green, H. & Cleveland, D.W. Two distinct classes of keratin genes and their evolutionary significance. Cell 27, 75–84 (1981).
  Article CAS Google Scholar
• Steinert, P.M., Steven, A.C. & Roop, D.R. The molecular biology of intermediate filaments. Cell 42, 411–419 (1985).
  Article CAS Google Scholar
• Parry, D.A.D., Steven, A.C. & Steinert, P.M. The coiled-coil molecules of intermediate filaments consist of two parallel chains in exact axial register. Biochem. Biophys. Res. Comm. 127, 1012–1018 (1985).
  Article CAS Google Scholar
• Fraser, R.D.B., MacRae, T.P., Parry, D.A.D. & Suzuki, E. Intermediate filaments in α-keratins. Proc. natn. Acad. Sci. U.S.A. 83, 1179–1183 (1986).
  Article CAS Google Scholar
• Steinert, P.M. & Freedberg, I.M. in Physiology, Biochemistry, and Molecular Biology of the Skin (ed. Goldsmith, L.A.) 113–147 (Oxford University Press, New York, 1992).
  Google Scholar
• Coulombe, P.A. & Fuchs, E. Elucidating the early stages of keratin filament assembly. J. cell Biol. 111, 153–169 (1990).
  Article CAS Google Scholar
• Eckert, R.L. & Rorke, E.A. The sequence of the human epidermal 58-kD (♯5) type II keratin reveals an absence of 5′ upstream sequence conservation between coexpressed epidermal keratins. DNA 7, 337–345 (1988).
  Article CAS Google Scholar
• Rothnagel, J.A. et al. Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science 257, 1128–1130 (1992).
  Article CAS Google Scholar
• Cheng, J. et al. The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes. Cell 70, 811–819 (1992).
  Article CAS Google Scholar
• Chipev, C.C. et al. A Leucine→Proline mutation in the cH1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. Cell 70, 821–828 (1992).
  Article CAS Google Scholar
• Byers, P.H. Brittle bones-fragile molecules: disorders of collagen gene structure and expression. Trends Genet. 6, 293–300 (1990).
  Article CAS Google Scholar
• Kuivaniemi, H., Tromp, G. & Prockop, D.J. Mutations in collagen genes: causes of rare and some common diseases in humans. Faseb J. 5, 2052–2060 (1991).
  Article CAS Google Scholar
• Prockop, D.J. Mutations in collagen genes as a cause of connective-tissue diseases. New Engl. J. Med. 326, 540–546 (1992).
  Article CAS Google Scholar
• Krane, S.M., Pinnell, S.R. & Erbe, R.W. Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen. Proc. natn. Acad. Sci. U.S.A. 69, 2899–2903 (1972).
  Article CAS Google Scholar
• Nusgens, B.V. et al. Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis. Nature Genet. 1, 214–217 (1992).
  Article CAS Google Scholar
• Pope, F.M. et al. Patients with Ehlers-Danlos syndrome type IV lack type III collagen. Proc. natn. Acad. Sci. U.S.A. 72, 1314–1316 (1975).
  Article CAS Google Scholar
• Tromp, G. & Prockop, D. Single base mutation in the proα2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame proa2(I) chain. Proc. natn. Acad. Sci. U.S.A. 85, 5254–5258 (1988).
  Article CAS Google Scholar
• Pihlajaniemi, T. et al. Osteogenesis imperfecta: cloning of a pro-α2(I) collagen gene with a frameshift mutation. J. biol. Chem. 259, 12941–12944 (1984).
  CAS PubMed Google Scholar
• Cohn, D.H., Starman, B.J., Blumberg, B. & Byers, P.M. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene. Am. J. hum. Genet. 46, 591–601 (1990).
  CAS PubMed PubMed Central Google Scholar
• Anton-Lamprecht, I., Jovanovic, V., Arnold, M.-L., Rauskolb, R. & Schenck, W. Prenatal diagnosis of genetic disorders of the skin by means of electron microscopy. Hum. Genet. 59, 392–405 (1981).
  Article CAS Google Scholar
• Rheinwald, J.G. & Green, H. Serial cultivation of strains of human epidermal keratinocytes: the formation of keratinizing colonies from single cells. Cell 6, 331–334 (1975).
  Article CAS Google Scholar
• Chomczynski, P. & Sacchi, N. Single step method of RNA isolation of acid guanidium thibcyanate-phenol-chloroform extraction. Anal. Biochem. 162, 156–159 (1987).
  Article CAS Google Scholar
• Gyllensten, U.B. & Erlich, H.A. Generation of single-strand DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus. Proc. natn. Acad. Sci. U.S.A. 85, 7652–7656 (1988).
  Article CAS Google Scholar
• Dessen, P., Fondrat, C., Valencien, C. & Mugnier, C. Bisance: a French service for access to biomolecular sequences databases. Cabios. 6, 355–356 (1990).
  CAS PubMed Google Scholar
• Lathrop, G.M., Lalouel, J.-M., Julier, C. & Ott, J. Strategies for multitocus linkage analysis in humans. Proc. natn. Acad. Sci. U.S.A. 81, 3443–3446 (1984).
  Article CAS Google Scholar
• Nakamura, Y. et al. Isolation and mapping of a polymorphic DNA sequence pYNH15 on chromosome 12q [D12S17]. Nucl. Acids Res. 16, 779 (1988).
  Article CAS Google Scholar
• Priestley, L., Kumar, D. & Sykes, B. Amplification of the COL2A1 3′ variable region used for segregation analysis in a family with the Stickler syndrome. Hum. Genet. 85, 525–526 (1990).
  Article CAS Google Scholar