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

1. 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). | PubMed  | ISI | ChemPort |
2. 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).
3. 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). | PubMed  | ISI | ChemPort |
4. 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 | PubMed  | ISI | ChemPort |
5. 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 | PubMed  | ISI | ChemPort |
6. 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). | PubMed  | ISI | ChemPort |
7. 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  | ISI |
8. 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). | PubMed  | ISI | ChemPort |
9. 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 | PubMed  | ISI | ChemPort |
10. 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 | PubMed  | ISI | ChemPort |
11. 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 | PubMed  | ISI | ChemPort |
12. Epstein, E.H., Jr. Molecular genetics of epidermolysis bullosa. Science 256, 799−803 (1992). | PubMed  | ISI | ChemPort |
13. Fuchs, E. & Coulombe, P.A. Of mice arid men: genetic skin diseases of keratin. Cell 69, 899−902 (1992). | PubMed  | ISI | ChemPort |
14. 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). | PubMed  | ISI | ChemPort |
15. 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).
16. 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 | PubMed  | ISI | ChemPort |
17. Fine, J.-D. et al. Autosomal recessive epidermolysis bullosa simplex. Arch. Dermatol. 125, 931−938 (1989). | Article | PubMed  | ISI | ChemPort |
18. 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). | ISI | ChemPort |
19. 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 | PubMed  | ISI | ChemPort |
20. 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). | ChemPort |
21. Marchuk, D., McCrohon, S. & Fuchs, E. Remarkable conservation of structure among intermediate filament genes. Cell 39, 491−498 (1984). | Article | PubMed  | ISI | ChemPort |
22. 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). | ChemPort |
23. 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). | PubMed  | ISI | ChemPort |
24. 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). | PubMed  | ISI | ChemPort |
25. 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 | PubMed  | ISI | ChemPort |
26. Lee, L.D. & Baden, H.P. Organization of the polypeptide chains in mammalian keratin. Nature 264, 377−379 (1976). | PubMed  | ISI | ChemPort |
27. Parry, D.A.D., Crewther, W.G., Fraser, R.D.B. & McRae, T.P. Structure of -keratin: structural implication of the amino acid sequences of the type I and type II chain segments. J. molec. Biol. 113, 449−454 (1977). | PubMed  | ISI | ChemPort |
28. Mc Lachlan, A.D. Coiled-coil formation and sequence regularities in the helical regions of -keratins. J. molec. Biol. 124, 297−304 (1978). | PubMed  | ChemPort |
29. 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 | PubMed  | ISI | ChemPort |
30. Steinert, P.M., Steven, A.C. & Roop, D.R. The molecular biology of intermediate filaments. Cell 42, 411−419 (1985). | Article | PubMed  | ISI | ChemPort |
31. 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). | PubMed  | ISI | ChemPort |
32. Fraser, R.D.B., MacRae, T.P., Parry, D.A.D. & Suzuki, E. Intermediate filaments in -keratins. Proc. natn. Acad. Sci. U.S.A. 83, 1179−1183 (1986). | ChemPort |
33. 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).
34. Coulombe, P.A. & Fuchs, E. Elucidating the early stages of keratin filament assembly. J. cell Biol. 111, 153−169 (1990). | Article | PubMed  | ISI | ChemPort |
35. 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). | PubMed  | ISI | ChemPort |
36. Rothnagel, J.A. et al. Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science 257, 1128−1130 (1992). | PubMed  | ISI | ChemPort |
37. Cheng, J. et al. The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes. Cell 70, 811−819 (1992). | Article | PubMed  | ISI | ChemPort |
38. Chipev, C.C. et al. A LeucineProline mutation in the cH1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. Cell 70, 821−828 (1992). | Article | PubMed  | ISI | ChemPort |
39. Byers, P.H. Brittle bones-fragile molecules: disorders of collagen gene structure and expression. Trends Genet. 6, 293−300 (1990). | Article | PubMed  | ISI | ChemPort |
40. 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). | PubMed  | ISI | ChemPort |
41. Prockop, D.J. Mutations in collagen genes as a cause of connective-tissue diseases. New Engl. J. Med. 326, 540−546 (1992). | PubMed  | ISI | ChemPort |
42. 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). | ChemPort |
43. 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 | PubMed  | ISI | ChemPort |
44. 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). | ChemPort |
45. Tromp, G. & Prockop, D. Single base mutation in the pro2(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). | ChemPort |
46. Pihlajaniemi, T. et al. Osteogenesis imperfecta: cloning of a pro-2(I) collagen gene with a frameshift mutation. J. biol. Chem. 259, 12941−12944 (1984). | PubMed  | ChemPort |
47. 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). | PubMed  | ISI | ChemPort |
48. 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). | PubMed  | ChemPort |
49. 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 | PubMed  | ISI | ChemPort |
50. Chomczynski, P. & Sacchi, N. Single step method of RNA isolation of acid guanidium thibcyanate-phenol-chloroform extraction. Anal. Biochem. 162, 156−159 (1987). | Article | PubMed  | ISI | ChemPort |
51. 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). | ChemPort |
52. Dessen, P., Fondrat, C., Valencien, C. & Mugnier, C. Bisance: a French service for access to biomolecular sequences databases. Cabios. 6, 355−356 (1990). | PubMed  | ChemPort |
53. 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). | ChemPort |
54. Nakamura, Y. et al. Isolation and mapping of a polymorphic DNA sequence pYNH15 on chromosome 12q [D12S17]. Nucl. Acids Res. 16, 779 (1988). | PubMed  | ISI | ChemPort |
55. 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). | PubMed  | ISI | ChemPort |

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