The cytoskeleton and disease: Genetic disorders of intermediate filaments

Annual Review of Genetics

Volumn 30, Issue , 1996, Pages 197-231

  Fuchs, Elaine ^a  

^a UNIVERSITY OF CHICAGO   (United States)

Author keywords

cytoskeleton; genetic disease; intermediate filaments; multigene family; protein function; protein structure

Indexed keywords

INTERMEDIATE FILAMENT PROTEIN; KERATIN;

ACTIN FILAMENT; CELL POLARITY; CYTOPLASM; CYTOSKELETON; EPIDERMIS CELL; EPIDERMOLYSIS BULLOSA SIMPLEX; GENE MUTATION; HUMAN; HYPERKERATOSIS; INTERMEDIATE FILAMENT; KERATOSIS PALMOPLANTARIS; MICROTUBULE; NONHUMAN; PRIORITY JOURNAL; PROTEIN SYNTHESIS; REVIEW; WOUND HEALING;

AMINO ACID SEQUENCE; ANIMALS; CYTOSKELETON; EPIDERMOLYSIS BULLOSA SIMPLEX; GENE EXPRESSION REGULATION; HUMANS; INTERMEDIATE FILAMENT PROTEINS; KERATINS; MOLECULAR SEQUENCE DATA; MUTAGENESIS; PROTEIN CONFORMATION;

EID: 0030474645     PISSN: 00664197     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.genet.30.1.197     Document Type: Review

References (184)

1. Aebi U, Cohn JB, Gerace LL. 1986. The nuclear lamina is a meshwork of intermediate-type filaments. Nature 323:560-64
2. Aebi U, Fowler WE, Rew P, Sun T-T. 1983. The fibrillar substructure of keratin filaments unraveled. J. Cell Biol. 97:1131-43
3. Albers K, Fuchs E. 1987. The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines. J. Cell Biol. 105:791-806
4. Albers K, Fuchs E. 1989. Expression of mutant keratin cDNAs in epithelial cells reveals possible mechanisms for initiation and assembly of intermediate filaments. J. Cell Biol. 108:1477-93
5. Allen E, Yu Q-C, Fuchs E. 1996. Abnormalities in desmosomes, proliferation and differentiation in the epidermis of mice expressing a mutant desmosomal cadherin. J. Cell Biol. 133:1367-82
6. Anton-Lamprecht I. 1983. Genetically induced abnormalities of epidermal differentiation and ultrastructure in ichthyoses and epidermolysis: pathogenesis, heterogeneity, fetal manifestation, and prenatal diagnosis. J. Invest. Dermatol. 81:S149-56
7. Anton-Lamprecht I, Schnyder UW. 1974. Ultrastructure of inborn errors of keratinization. Arch. Dermatol. Forsch. 250:207-27
8. Bader BL, Magin TM, Freudenmann M, Stumpp S, Franke WW. 1991. Intermediate filaments formed de novo from tailless cytokeratins in the cytoplasm and in the nucleus. J. Cell Biol. 115:1293-307
9. Baribault H, Penner J, Iozzo RV, Wilson-Heiner M. 1994. Colorectal hyperplasia and inflammation in keratin 8-deficient FVB/N mice. Genes Dev. 8:2964-73
10. Baribault H, Price J, Miyai K, Oshima RG. 1993. Mid-gestational lethality in mice lacking keratin 8. Genes Dev. 7:1191-201
11. Deleted in proof
12. Bilbe G, Delabie J, Bruggen J, Richener H, Asselbergs FAM, et al. 1992. Restin: a novel intermediate filament-associated protein highly expressed in the Reed-Sternberg cells of Hodgkin's disease. Eur. Mol. Biol. Organ. J. 11:2103-13
13. Bonifas JM, Rothman AL, Epstein EH. 1991. Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. Science 254:1202-5
14. Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner RJ. 1995. Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nat. Genet. 10:363-65
15. Byrne C, Tainsky M, Fuchs E. 1994. Programming gene expression in developing epidermis. Development 120:2369-83
16. Cameron CH, Mirakhur M, Allen IV. 1995. Desmin myopathy with cardiomyopathy. Acta Neuropathol. 89:560-66
17. Capetanaki YG, Starnes S, Smith S. 1989. Expression of the chicken vimentin gene in transgenic mice: efficient assembly of the avian protein into cytoskeleton. Proc. Natl. Acad. Sci. USA 86:4882-86
18. Chan YM, Anton-Lamprecht I, Yu Q-C, Jackel A, Zabel B, et al. 1994. A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein. Genes Dev. 8:2574-87
19. Chan YM, Cheng J, Gedde-Dahl T, Niemi KM, Fuchs E. 1996. Genetic analysis of a severe case of dowling-meara epidermolysis bullosa simplex. J. Invest. Dermatol. 106:327-34
20. Chan YM, Yu Q-C, Christiano A, Uitto J, Kucherlapati RS, et al. 1994. Mutations in the nonhelical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne Epidermolysis Bullosa Simplex. J. Cell Sci. 107:765-74
21. Chan YM, Yu Q-C, Fine JD, Fuchs E. 1993. The genetic basis of Webercockayne epidermolysis bullosa simplex. Proc. Natl. Acad. Sci. USA 90:7414-18
22. Chen H, Bonifas JM, Matsumura K, Ikeda S, Leyden WA. 1995. Keratin 14 gene mutations in patients with epidermolysis bullosa simplex. J. Invest. Dermatol. 105:629-32
23. Cheng J, Syder AJ, Yu Q-C, Letai A, Paller AS, Fuchs E. 1992. The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes. Cell 70:811-19
24. Ching GY, Liem RKH. 1991. Structure of the gene for the neuronal intermediate filament protein alpha-internexin and functional analysis of its promoter. J. Biol. Chem. 266:19459-68
25. Chipev CC, Korge BP, Markova N, Bale SJ, DiGiovanna JJ, et al. 1992. A leucine → proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. Cell 70:821-28
26. Choi Y, Fuchs E. 1990. TGF-beta and retinoic acid: regulators of growth and modifyers of differentiation in human epidermal cells. Cell Regul. 1:791-809
27. Christian JL, Edelstein NG, Moon RT. 1990. Overexpression of wild-type and dominant negative mutant vimentin subunits in developing Xenopus embryos. New Biol. 2:700-11
28. Collard JF, Cote F, Julien JP. 1995. Defective axonal transport in a transgenic T4 mouse model of amyotrophic lateral sclerosis. Nature 375:61-64
29. Collin C, Moll R, Kubicka S, Ouhayoun JP, Franke WW. 1992. Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation. Exp. Cell Res. 202:132-41
30. Colucci-Guyon E, Portier MM, Dunia I, Paulin D, Pournin S, Babinet C. 1994. Mice lacking vimentin develop and reproduce without an obvious phenotype. Cell 79:679-94
31. Compton JG. 1994. Epidermal disease: faculty keratin filaments take their toll. Nat. Genet. 6:6-7
32. Compton JG, DiGiovanna JJ, Santucci SK, Kearns KS, Amos CI, et al. 1992. Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q. Nat. Genet. 1:301-5
33. Cooper DN, Youssoufian H. 1988. The CpG dinucleotide and human genetic disease. Hum. Genet. 78:151-55
34. Cote F, Collard JF, Julien JP. 1993. Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis. Cell 73:35-46
35. Cotsarelis G, Sun TT, Lavker RM. 1990. Label-retaining cells residue in the bulge area of pilosebaceous unit: implications for follicular stem cells, hair cycle, and skin carcinogenesis. Cell 61:1329-37
36. Coulombe PA, Chan YM, Albers K, Fuchs E. 1990. Deletions in epidermal keratins leading to alterations in filament organization in vivo and in intermediate filament assembly in vitro. J. Cell Biol. 111:3049-64
37. Coulombe PA, Fuchs E. 1990. Elucidating the early stages of keratin filament assembly. J. Cell Biol. 111:153-69
38. Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E. 1991. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. Cell 66:1301-11
39. Coulombe PA, Hutton ME, Vassar R, Fuchs E. 1991. A function for keratins and a common thread among different types of epidermolysis bullosa simplex diseases. J. Cell Biol. 115:1661-74
40. Coulombe PA, Kopan R, Fuchs E. 1989. Expression of keratin K14 in the epidermis and hair follicle: insights into complex programs of differentiation. J. Cell Biol. 109:2295-312
41. Delabie J, Shipman R, Bruggen J, De Strooper B, van Leuven F, et al. 1992. Expression of the novel intermediate filament-associated protein restin in Hodgkin's disease and anaplastic large cell lymphoma. Blood 80:2891-96
42. Dong W, Ryynanen M, Uitto J. 1993. Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized kobner type of epidermolysis bullosa simplex (EBS). Hum. Mutat. 2:94-102
43. Dunia I, Pieper F, Manenti S, van de Kemp A, Devilliers G, et al. 1990. Plasma membrane-cytoskeleton damage in eye lenses of transgenic mice expressing desmin. Eur. J. Cell Biol. 53:59-74
44. Eckelt A, Herrmann H, Franke WW. 1992. Assembly of a tail-less mutant of the intermediate filament protein vimentin, in vitro and in vivo. Eur. J. Cell Biol. 58:319-30
45. Ehrlich P, Sybert VP, Spencer A, Stephens K. 1995. A common keratin 5 gene mutation in epidermolysis bullosa simplex - Weber-Cockayne. J. Invest. Dermatol. 104:877-79
46. Engel A, Eichner R, Aebi U. 1985. Polymorphism of reconstituted human epidermal keratin filaments: determination of their mass-per-length and width by scanning-transmission electron microscopy (STEM). J. Ultrastruct. Res. 90:323-35
47. Figlewicz DA, Krizus A, Martinoli MG, Meininger V, Dib M, et al. 1994. Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum. Mol. Genet. 3:1757-61
48. Fine JD, Bauer EA, Briggaman RA, Carter DM, Eady RAJ, et al. 1991. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. J. Am. Acad. Dermatol. 24:119-35
49. Fisher DZ, Chaudhary N, Blobel G. 1986. CDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to interemediate filament proteins. Proc. Natl. Acad. Sci. USA 83:6450-54
50. Fitzpatrick TB, Eisen AZ, Wolff K, Freedberg IM, Austen KF, eds, 1993. Dermatology in General Medicine, Vols. 1, 2. New York: McGraw-Hill
51. Fuchs E. 1994. Intermediate filaments and disease: mutations that cripple cell strength. J. Cell Biol. 125:511-16
52. Fuchs E, Esteves RA, Coulombe PA. 1992. Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for Epidermolytic Hyperkeratosis. Proc. Natl. Acad. Sci. USA 89:6906-10
53. Fuchs E, Green H. 1980. Changes in keratin gene expression during terminal differentiation of the keratinocyte. Cell 19:1033-42
54. Fuchs E, Weber K. 1994. Intermediate filaments: structure, dynamics, function, and disease. Annu. Rev. Biochem. 63:345-82
55. Geisler N, Kaufmann E, Weber K. 1985. Antiparallel orientation of the two double stranded coiled-coils in the tetrameric protofilament unit of intermediate filaments. J. Mol. Biol. 182:173-77
56. Geisler N, Plessmann U, Weber K. 1982. Related amino acid sequences in neurofilaments and nonneuronal intermediate filaments. Nature 296:448-50
57. Geisler N, Schunemann J, Weber K. 1992. Chemical cross-linking indicates a staggered and antiparallel protofilament of desmin intermediate filaments and characterizes one higher-level complex between protofilaments. Eur. J. Biochem. 206:841-52
58. Geisler N, Weber K. 1981. Self-assembly in vitro of the 68,000 molecular weight component of the mammalian neurofilament triplet proteins into intermediate-sized filaments J. Mol. Biol. 151:565-71
59. Geisler N, Weber K. 1983. Amino acid sequence data on glial fibrillary acidic protein (GFA): implications for the subdivision of intermediate filaments into epithelial and nonepithelial members. Eur. Mol. Biol. Organ. J. 2:2059-63
60. Gerace L, Burke B. 1988. Functional organization of the nuclear envelope. Annu. Rev. Cell Biol. 4:335-74
61. Gillespie JM, Marshall RC. 1989. The biology of wool and hair: effect of mutation on the proteins of wool and hair. In Biology of Wool and Hair, ed. GE Roger, PJ Reis, KA Ward, RC Marshall, pp. 257-74. Cambridge, Engl: Chapman & Hall/University Press
62. Gounari F, Merdes A, Quinlan R, Hess J, FitzGerald PG, et al. 1993. Bovine filensin possesses primary and secondary structure similarity to intermediate filament proteins. J. Cell Biol. 121:847-53
63. Guo L, Degenstein L, Dowling J, Yu Q-C, Wollmann R, et al. 1995. Gene targeting of BPAG1: Abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration. Cell 81:233-43
64. Haneke E, Anton-Lamprecht I. 1982. Ultrastructure of blister formation in epidermolysis bullosa hereditaria: V. epidermolysis bullosa simplex localisata type Weber-Cockayne. J. Invest. Dermatol. 78:219-23
65. Hanukoglu I, Fuchs E. 1982. The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins. Cell 31:243-52
66. Hanukoglu I, Fuchs E. 1983. The cDNA sequence of a type II cytoskeletal keratin reveals constant and variable structural domains among keratins. Cell 33:915-24
67. Hatzfeld M, Dodemont H, Plessmann U, Weber K. 1992. Truncation of recombinant vimentin by ompT. Identification of a short motif in the head domain necessary for assembly of type III intermediate filament proteins. FEBS Lett. 302:239-42
68. Hatzfeld M, Weber K. 1990. The coiled coil of in vitro assembled keratin filaments is a heterodimer of type I and II keratins: use of site-specific mutagenesis and recombinant protein expression. J. Cell Biol. 110:1199-210
69. Hatzfeld M, Weber K. 1990. Tailless keratins assemble into regular intermediate filaments in vitro. J. Cell Sci. 97:317-24
70. Hatzfeld M, Weber K. 1991. Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence at the C-terminal end of the rod domain. J. Cell Sci. 99:351-62
71. Hatzfeld M, Weber K. 1992. A synthetic peptide representing the consensus sequence motif at the carboxy-terminal end of the rod domain inhibits intermediate filament assembly and disassembles preformed filaments. J. Cell Biol. 116:157-66
72. Heald R, McKeon F. 1990. Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis. Cell 61:579-89
73. Heins S, Wong PC, Muller S, Goldie K, Cleveland DW, Aebi U. 1993. The rod domain of NF-L determines neurofilament architecture, whereas the end domains specify filament assembly and network formation. J. Cell Biol. 123:1517-33
74. Hennies HC, Kuster W, Mischke D, Reis A. 1995. Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster. Hum. Mol. Genet. 4:1015-20
75. Hennies HC, Zehender D, Kunze J, Kuster W, Reis A. 1994. Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma. Hum. Genet. 93:649-54
76. Hoffman PN, Cleveland DW, Griffin JW, Landes PW, Cowan NJ, Price DL. 1987. Neurofilament gene expression: a major determinant of axonal caliber. Proc. Natl. Acad. Sci. USA 84:3472-76
77. Holtz D, Tanaka RA, Hartwig J, McKeon F. 1989. The CaaX motif of lamin A functions in conjunction with the nuclear localization signal to target assembly to the nuclear envelope. Cell 59:969-77
78. Horowitz SH, Schmalbruch H. 1994. Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship. Muscle Nerve 17:151-60
79. Humphries M, Nagayoshi T, Shells D, Humphries P, Uitto J. 1990. Human nidogen gene: identification of multiple RFLP and exclusion as candidate gene in a family with epidermolysis bullosa (EBS2) with evidence for linkage to chromosome 1. J. Invest. Dermatol. 95:568-70
80. Humphries MM, Sheils DM, Farrar GJ, Kumar-Singh R, Kenna PF, et al. 1993. A mutation (Met → Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex. Hum. Mutat. 2:37-42
81. Humphries MM, Sheils D, Lawler M, Farrar GJ, McWilliam P, et al. 1990. Epidermolysis bullosa: evidence for linkage to genetic markers on chromosome 1 in a family with the autosomal dominant simplex form. Genomics 7:377-81
82. Ito M, Okuda C, Shimizu N, Tazawa T, Sato Y. 1991. Epidermolysis bullosa simplex (Koebner) is a keratin disorder. Arch. Dermatol. 127:367-72
83. Janmey PA, Euteneuer U, Traub P, Schliwa M. 1991. Viscoelastic properties of vimentin compared with other filamentous biopolymer networks. J. Cell Biol. 113:155-60
84. Kaufmann E, Weber K, Geisler N. 1985. Intermediate filament forming ability of desmin derivatives lacking either the amino-terminal 67 or the carboxy-terminal 27-residues. J. Mol. Biol. 185:733-42
85. Kitajima Y, Inoue S, Yaoita H. 1989. Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex. Arch. Dermatol. Res. 281:5-10
86. Kopan R, Fuchs E. 1989. The use of retinoic acid to probe the relation between hyperproliferation-associated keratins and cell proliferation in normal and malignant epidermal cells. J. Cell Biol. 109:295-307
87. Kouklis PD, Hutton E, Fuchs E. 1994. Making the connection: direct binding between keratin intermediate filaments and desmosomes proteins. J. Cell Biol. 127:1049-60
88. Kouklis PD, Traub P, Georgatos SD. 1992. Involvement of the consensus sequence motif at coil 2b in the assembly and stability of vimentin filaments. J. Cell Sci. 102:31-41
89. Kremer H, Zeeuwen P, McLean WH, Mariman EC, Lane EB, et al. 1994. Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene. J. Invest. Dermatol. 103:286-89
90. Lane EB, Rugg EL, Navsaria H, Leigh IM, Heagerty AHM, et al. 1992. A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature 356:244-46
91. Langbein L, Heid HW, Moll I, Franke WW. 1993. Molecular characterization of the body site-specific human epidermal cytokeratin 9: cDNA cloning, amino acid sequence, and tissue specificity of gene expression. Differentiation 55:57-72
92. Lazarides E. 1982. Intermediate filaments: a chemically heterogeneous, developmentally regulated class of proteins. Annu. Rev. Biochem. 51:219-50
93. Lee MK, Marszalek JR, Cleveland DW. 1994. A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease. Neuron 13:975-88
94. Lendahl U, Zimmerman LB, McKay RDG. 1990. CNS stem cells express a new class of intermediate filament protein. Cell 60:585-95
95. Lersch R. 1991. Coordinate regulation of type I and type II keratins. PhD thesis. Univ. Chicago, IL
96. Letai A, Coulombe PA, Fuchs E. 1992. 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. 116:1181-95
97. Letai A, Coulombe PA, McCormick MB, Yu Q-C, Hutton E, Fuchs E. 1993. Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex. Proc. Natl. Acad. Sci. USA 90:3197-201
98. Levy E, Liem RKH, D'Eustachio P, Cowan N. 1987. Structure and evolutionary origin of the gene encoding NF-M, the middle-molecular-mass neurofilament protein. Eur. J. Biochem. 166:71-77
99. Lewis SA, Cowan NJ. 1985. Genetics, evolution, and expression of the 68,000-mol-wt neurofilament protein: isolation of a cloned cDNA probe. J. Cell Biol. 100:843-50
100. Lindberg K, Rheinwald JG. 1990. Three distinct keratinocyte subtypes identified in human oral epithelium by their patterns of keratin expression in culture and in xenografts. Differentiation 45:230-41
101. Lloyd C, Yu Q-C, Cheng J, Turksen K, Degenstein L, et al. 1995. The basal keratin network of stratified squamous epithelia: defining K15 function in the absence of K14. J. Cell Biol. 129:1329-44
102. Loewinger L, McKeon F. 1988. Mutations in the nuclear lamin proteins resulting in their aberrant assembly in the cytoplasm. Eur. Mol. Biol. Organ. J. 7:2301-9
103. Mack JW, Steven AC, Steinert PM. 1993. The mechanism of interaction of filaggrin with intermediate filaments. The ionic zipper hypothesis. J. Mol. Biol. 232:50-66
104. Mansbridge JN, Knapp AM. 1987. Changes in keratinocyte maturation during wound healing. J. Invest. Dermatol. 89:253-62
105. McConnell SJ, Yaffe MP. 1993. Intermediate filament formation by a yeast protein essential for organelle inheritance. Science 260:687-89
106. McCormick MB, Kouklis P, Syder A, Fuchs E. 1993. The roles of the rod end and the tail in vimentin IF assembly and IF network formation. J. Cell Biol. 122:395-407
107. McKeon FM, Kirschner MW, Caput D. 1986. Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins. Nature 319:463-68
108. McLean WH, Morley SM, Lane EB, Eady RA, Griffiths WA, et al. 1994. Ichthyosis bullosa of Siemens - a disease involving keratin 2e. J. Invest. Dermatol. 103:277-81
109. McLean WH, Rugg EL, Lunny DP, Morley SM, Lane EB, et al. 1995. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat. Genet. 9:273-78
110. Merdes A, Gounari F, Georgatos SD. 1993. The 47-kD lens-specific protein phakinin is a tailless intermediate filament protein and an assembly partner of filensin. J. Cell Biol. 123:1507-16
111. Moir RD, Donaldson AD, Stewart M. 1991. Expression in escherichia coli of human lamins A and C: influence of head and tail domains on assembly properties and paracrystal formation. J. Cell Sci. 99:363-72
112. Moll R, Franke WW, Schiller DL, Geiger B, Krepler R. 1982. The catalog of human cytokeratins: patterns of expression in normal epithelia, tumors, and cultured cells. Cell 31:11-24
113. Moll R, Zimbelmann R, Goldschmidt MD, Keith M, Laufer J, et al. 1993. The human gene encoding cytokeratin 20 and its expression during fetal development and in gastrointestinal carcinomas. Differentiation 53:75-93
114. Monteiro JM, Hoffman PN, Gearhart JD, Cleveland DW. 1990. Expression of NF-L in both neuronal and nonneuronal cells of transgenic mice: increased neurofilament density in axons without affecting caliber, J. Cell. Biol. 111:1543-57
115. Mulley JC, Nicholls CM, Propert DN, Turner T, Sutherland GR. 1984. Genetic linkage analysis of epidermolysis bullosa simplex, Kobner type. Am. J. Med. Genet. 19:573-77
116. Munro CS, Carter S, Bryce S, Hall M, Rees JL, et al. 1994. A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21. J. Med. Genet. 31:675-78
117. Muntoni F, Catani G, Mateddu A, Rimoldi M, Congiu T, et al. 1994. Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate-filaments. Neuromuscul. Disord. 4:233-41
118. Nadeau JH, Berger FG, Cox D, Crosby JL, Davisson MT, et al. 1989. A family of type I keratin genes and the homeobox-2 gene complex are closely linked to the rex locus on mouse chromosome 11. Genomics 5:454-62
119. Nelson W, Sun TT. 1983. The 50- and 58-kdalton keratin classes as molecular markers for stratified squamous epithelia: cell culture studies. J. Cell Biol. 97:244-51
120. Newport JW, Wilson KL, Dunphy WG. 1990. A lamin-independent pathway for nuclear envelope assembly. J. Cell Biol. 111:2247-59
121. Nomura K, Imaizumi T, Sawamura D, Hashimoto I, Katabira Y. 1988. Response of epidermolysis bullosa fibroblasts to factors derived from macrophages and polymorphonuclear leukocytes in terms of collagenase production. J. Invest. Dermatol. 90:170-74
122. Ohara O, Gahara Y, Miyake T, Teraoke H, Kitamura T. 1993. Neurofilament deficiency in quail caused by nonsense mutation in neurofilament-L gene. J. Cell Biol. 121:387-95
123. Osborn M. 1983. Intermediate filaments as histologic markers: an overview. J. Invest. Dermatol. 81:8104-7
124. Pachter JS, Liem RKH. 1985. Alpha-internexin, a 66-kD intermediate filament-binding protein from mammalian central nervous tissues. J. Cell Biol. 101:1316-22
125. Paller AS, Syder AJ, Chan YM, Yu Q-C, Hutton E, et al. 1994. A direct link between clinical and genetic mosaicism: the genetic basis of a form of epidermal nevus. N. Engl. J. Med. 331:1408-15
126. Parry DAD, Steven AC, Steinert PM. 1985. The coiled-coil molecules of intermediate filaments consist of two parallel chains in exact axial register. Biochem. Biophys. Res. Commun. 127:1012-18
127. Pekny M, Leveen P, Pekna M, Eliasson C, Berthold CH, et al. 1995. Mice lacking glial fibrillary acidic protein display astrocytes devoid of intermediate filaments but develop and reproduce normally. Eur. Mol. Biol. Organ. J. 14:1590-98
128. Porter RM, Leitgeb S, Melton DW, Swensson O, Eady RAJ, Magin TM. 1996. Gene targeting at the mouse cytokeratin 10 locus: severe skin fragility and changes of cytokeratin expression in the epidermis. J. Cell Biol. 132:925-36
129. Portier MM, de Nechaud B, Gros F. 1983. Peripherin, a new member of the intermediate filament protein family. Dev. Neurosci. 6:335-44
130. Potschka M, Nave R, Weber K, Geisler N. 1990. The two coiled-coils in the isolated rod domain of the intermediate filament protein desmin are staggered. Eur. J. Biochem. 190:503-8
131. Powell BC, Rogers GE. 1990. Cyclic hair-loss and regrowth in transgenic mice overexpressing an intermediate filament gene. Eur. Mol. Biol. Organ. J. 9:1485-93
132. Quinlan RA, Cohlberg JA, Schiller DL, Hatzfeld M, Franke WW. 1984. Heterotypic tetramer (A2D2) complexes of nonepidermal keratins isolated from cytoskeletons of rat hepatocytes and hepatoma cells. J. Mol. Biol. 178:365-88
133. Quinlan RA, Hatzfeld M, Franke WW, Lustig A, Schulthess T, Engel J. 1986. Characterization of dimer subunits of intermediate filament proteins. J. Mol. Biol. 192:337-49
134. Raats JMH, Pieper FR, Egberts WTM, Verrijp KN, Ramaekers FCS, Bloemendal H. 1990. Assembly of amino terminally deleted desmin in vimentin-free cells. J. Cell Biol. 111:1971-85
135. Reis A, Hennies HC, Langbein L, Digweed M, Mischke D, et al. 1994. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nat. Genet. 6:174-79
136. Reynolds AJ, Jahoda CA. 1994. Hair follicle stem cells: characteristics and possible significance. Skin Pharmacol. 7:16-19
137. Rice RH, Green H. 1979. Presence in human epidermal cells of a soluble protein precursor of the cross-linked envelope: activation of the cross-linking by calcium ions. Cell 18:681-94
138. Richard G, DeLaurenzi V, Didona B, Bale SJ, Compton JG. 1995. Keratin 13 point mutation underlies the hereditary mucosal epithelia disorder white sponge nevus. Nat. Genet. 11:453-55
139. Rochat A, Kobayashi K, Barrandon Y. 1994. Location of stem cells of human hair follicles by clonal analysis. Cell 76: 1063-73
140. Roop DR, Hawley-Nelson P, Cheng CK, Yuspa SH. 1983. Keratin gene expression in mouse epidermis and cultured epidermal cells. Proc. Natl. Acad. Sci. USA 80:716-20
141. Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, et al. 1993. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis Nature 362:59-62
142. Rosenberg M, Fuchs E, Le Beau MM, Eddy R, Shows TB. 1991. Three epidermal and one epithelial keratin gene map to human chromosome 12. Cell Cytogenet. 57:33-38
143. Rosenberg M, RayChaudhury A, Shows TB, LeBeau MM, Fuchs E. 1988. A group of type I keratin genes on human chromosome 17: characterization and expression. Mol. Cell. Biol. 8:722-36
144. Rothnagel JA, Dominey AM, Dempsey LD, Longley MA, Greenhalgh DA, et al. 1992. Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science 257:1128-30
145. Rothnagel JA, Fisher MP, Axtell SM, Pittelkow MR, Anton-Lamprecht I, et al. 1993. A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis. Hum. Mol. Genet. 2:2147-50
146. Rothnagel JA, Longley MA, Holder RA, Kuster W, Roop DR. 1994. Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing. J. Invest. Dermatol. 102:13-16
147. Rothnagel JA, Wojcik S, Liefer KM, Dominey AM, Huber M, et al. 1995. Mutations in the IA domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma. J. Invest. Dermatol. 104:430-33
148. Rugg EL, McLean WHI, Allison WE, Lunny DP, Macleod RI, et al. 1995. A mutation in the mucosal keratin K4 is associated with oral white sponge nevus. Nat. Genet. 11:450-52
149. Rugg EL, McLean WHI, Lane EB, Pitera R, McMillan JR, et al. 1994. A functional "knockout" of human keratin 14. Genes Dev. 8:2563-73
150. Rugg EL, Morley SM, Smith FJD, Boxer M, Tidman MJ, et al. 1993. Missing links: Weber-cockayne keratin mutations implicate the L12 linker domain in effective cytoskeletonfunction. Nat. Genet. 5:294-300
151. Sanchez G, Seltzer JL, Eisen AZ, Stapler P, Bauer EA. 1983. Generalized dominant epidermolysis bullosa simplex: decreased activity of a gelatinolytic protease in cultured fibroblasts as a phenotypic marker. J. Invest. Dermatol. 81:576-79
152. Sarria AJ, Lieber JG, Nordeen SK, Evans RM. 1994. The presence or absence of a vimentin-type intermediate filament network affects the shape of the nucleus in human SW-13 cells. J. Cell Sci. 107:1593-607
153. Savolainen ER, Kero M, Pihlajaniemi T, Kivirikko KI. 1981. Deficiency of galactosylhydroxylysyl glucosyl transferase, an enzyme of collagen synthesis, in a family with dominant epidermolysis bullosa simplex. N. Engl. J. Med. 304:197-204
154. Schultheiss T, Lin ZX, Ishikawa H, Zamir I, Stoeckert CJ, Holtzer H. 1991. Desmin/vimentin intermediate filaments are dispensabe for many aspects of myogenesis. J. Cell Biol. 114:953-66
155. Stasiak PC, Purkis PE, Leigh IM, Lane EB. 1989. Keratin 19: predicted amino acid sequence and broad tissue distribution suggest it evolved from keratinocyte keratins. J. Invent. Dermatol. 92:707-16
156. Steinert PM. 1990. The two-chain coiled-coil molecular of native epidermal keratin intermediate filaments is a type I-type II heterodimer. J. Biol. Chem. 65:8766-74
157. Steinert PM. 1991. Organization of coiled-coil molecules in native mouse keratin 1/keratin 10 intermediate filaments: evidence for alternating rows of antiparallel in-registerand antiparallel staggered molecules. J. Struct. Biol. 107:157-74
158. Steinert PM, Idler WW, Zimmerman SB. 1976. Self-assembly of bovine epidermal keratin filaments in vitro. J. Mol. Biol. 108:547-67
159. Steinert PM, Marekov LN. 1995. The proteins elafin, filaggrin, keratin intermediate filaments, loricrin, and small proline-rich proteins 1 and 2 are isodipeptide cross-linked components of the human epidermal cornified cell envelope. J. Biol. Chem. 270:17702-11
160. Steinert PM, Marekov LN, Fraser RDB, Parry DAD. 1993. Keratin intermediate filament structure: crosslinking studies yield quantitative information on molecular dimensions and mechanisms of assembly. J. Mol. Biol. 230:436-52
161. Steinert PM, Parry DAD. 1993. The conserved H1 domain of the type II keratin 1 chain plays an essential role in the alignment of nearest neighbor molecules in mouse and human keratin 1/keratin 10 intermediate filaments at the two- to four-molecule level of structure. J. Biol. Chem. 268:2878-87
162. Steinert PM, Rice DRR, Trus ACS. 1983. Complete amino acid sequence of a mouse epidermal keratin subunit and implications for the structure of intermediate filaments. Nature 302:794-800
163. Stephens K, Sybert VP, Wijsman EM, Ehrlich P, Spencer A. 1993. A keratin 14 mutational hot spot for epidermolysis bullosa simplex, dowling-meara: implications for diagnosis. J. Invest. Dermatol. 101:240-43
164. Steven AC, Hainfeld JF, Trus BL, Wall JS, Steinert PM. 1983. The distribution of mass in heteropolymer intermediate filaments assembled in vitro. Stem analysis of vimentin/desmin and bovine epidermal keratin. J. Biol. Chem. 258:8323-29
165. Stewart M, Quinlan RA, Moir RD. 1989. Molecular interactions in paracrystals of a fragment corresponding to the α-helical coiled-coil rod portion of glial fibrillary acidic protein: evidence for an antiparallel packing of molecules and polymorphism related to intermediate filament structure. J. Cell Biol. 109:225-34
166. Su L, Morgan PR, Thomas JA, Lane EB. 1993. Expression of keratin 14 and 19 mRNA and protein in normal oral epithelia, hairy leukoplakia, tongue biting and white sponge nevus. J. Oral Pathol. Med. 22:183-89
167. Sun TT, Eichner R, Schermer A, Cooper D, Nelson WG, Weiss RA. 1984. Classification, expression and possible mechanisms of evolution of mammalian epithelial keratins: a unifying model. In The Cancer Cell, ed. A Levine, W Topp, G van de Woude, JD Watson, 1:169-76. Cold Spring Harbor, NY: Cold Spring Harbor Lab.
168. Syder AJ, Yu Q-C, Paller AS, Giudice G, Pearson R, Fuchs E. 1994. Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis: correlation between location and disease severity. J. Clin. Invest. 93:1533-42
169. Taniura H, Glass C, Gerace L. 1995. A chromatin binding site in the tail domain of nuclear lamins that interacts with core histones. J. Cell Biol. 131:33-44
170. Tidman MJ, Eady RA, Leigh IM, MacDonald DM. 1988. Keratin expression in epidermolysis bullosa simplex (Dowling-Meara). Acta Derm.-Venereol. 68:15-20
171. Torchard D, Blanchet-Bardon C, Serova O, Langbein L, Narod S, et al. 1994. Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer. Nat. Genet. 6:106-9
172. Traub P, Vorgias CE. 1983. Involvement of the N-lerminal polypeptide of vimentin in the formation of intermediate filaments. J. Cell Sci.63:43-67
173. Uttam J, Hutton EM, Coulombe PA, Anton-Lamprecht I, Yu Q-C, et al. 1996. The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. Proc. Natl. Acad. Sci. USA. 93:9079-84
174. Vajsar J, Becker LE, Freedom RM, Murphy EG. 1993. Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments. J. Neurol. Neurosurg. Psychiatry 56:644-48
175. Vassar R, Coulombe PA, Degenstein L, Albers K, Fuchs E. 1991. Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease. Cell 64:365-80
176. Vassar R, Rosenberg M, Ross S, Tyner A, Fuchs E. 1989. Tissue-specific and differentiation-specific expression of a human K14 keratin gene in transgenic mice. Proc. Natl. Acad. Sci. USA 86:1563-67
177. Williams GR, Talbot IC, Northover JM, Leigh IM. 1995. Keratin expression in the normal anal canal. Histopathology 26:39-44
178. Wilson AK, Coulombe PA, Fuchs E. 1992. The roles of K5 and K14 head, tail and R/KLLEGE domains in keratin filament assembly in vitro. J. Cell Biol. 119:401-14
179. Wong PC, Marszalek J, Crawford TO, Xu Z, Hsieh ST, et al. 1995. Increasing neurofilament subunit NF-M expression reduces axonal NF-H, inhibits radial growth, and results in neurofilamentous accumulation in motor neurons. J. Cell Biol. 130:1413-22
180. Woods EF, Inglis AS. 1984. Organization of the coiled-coils in the wool microfibril. Int. J. Biol. Macromol. 6:277-83
181. Wu YJ, Parker LM, Binder NE, Beckett MA, Sinard JH, et al. 1982. The mesothelial keratins: a new family of cytoskeletal proteins identified in cultured mesothelial cells and nonkeratinizing cells. Cell 31:693-703
182. Xu Z, Cork LC, Griffin JW, Cleveland DW. 1993. Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease. Cell 73:23-33
183. Yamanishi K, Matsuki M, Konishi K, Yasuno H. 1994. A novel mutation of leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex. Hum. Mol. Genet. 3:1171-72
184. Yang JM, Chipev CC, DiGiovanna JJ, Bale SJ, Marekov LN, et al. 1994. Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis. J. Invest. Dermatol. 102:17-23