Skin: An ideal model system to study keratin genes and proteins

Methods in Cell Biology

Volumn 2004, Issue 78, 2004, Pages 453-487

  Bernot, Kelsie M ^a   Coulombe, Pierre A ^a   Wong, Pauline ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

INTERMEDIATE FILAMENT PROTEIN; KERATIN; RNA;

ANIMAL; ARTICLE; BIOLOGICAL MODEL; CELL CULTURE; CELL DIFFERENTIATION; CYTOLOGY; ELECTRON MICROSCOPY; FROZEN SECTION; GENE EXPRESSION REGULATION; GENETICS; HISTOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; ISOLATION AND PURIFICATION; KERATINOCYTE; METABOLISM; MOUSE; MULTIGENE FAMILY; MUTATION; NEWBORN; SKIN; SKIN DISEASE;

ANIMALS; ANIMALS, NEWBORN; CELL DIFFERENTIATION; CELLS, CULTURED; FROZEN SECTIONS; GENE EXPRESSION REGULATION; HISTOLOGICAL TECHNIQUES; HUMANS; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; INTERMEDIATE FILAMENT PROTEINS; KERATINOCYTES; KERATINS; MICE; MICROSCOPY, ELECTRON; MODELS, BIOLOGICAL; MULTIGENE FAMILY; MUTATION; RNA; SKIN; SKIN DISEASES, GENETIC;

EID: 14244269062     PISSN: 0091679X     EISSN: None     Source Type: Book Series    
DOI: 10.1016/s0091-679x(04)78016-4     Document Type: Review

References (79)

1. Ameen, N. A., Figueroa, Y., and Salas, P. J. (2001). Anomalous apical plasma membrane phenotype in CK8-deficient mice indicates a novel role for intermediate filaments in the polarization of simple epithelia. J. Cell Sci. 114, 563-575.
2. Beil, M., Micoulet, A., von Wiehert, G., Paschke, S., Walther, P., Omary, M. B., Van Veldhoven, P. P., Gern, U., Wolff-Hieber, E., Eggermann, J., et al. (2003). Sphingosylphosphorylcholine regulates keratin network architecture and visco-elastic properties of human cancer cells. Nat. Cell Biol. 5, 803-811.
3. Bernot, K., McGowan, K., and Coulombe, P. A. (2002). Keratin 16 expression defines a subset of epithelial cells during skin morphogenesis and the hair cycle. J. Invest. Dermatol. 119, 1137-1149.
4. Bonifas, J. M., Rothman, A. L., and Epstein, E. J. (1991). Epidermolysis bullosa simplex: Evidence in two families for keratin gene abnormalities [see comments]. Science 254, 1202-1205.
5. Bradford, M. M. (1976). A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal. Biochem. 72, 248-254.
6. Bridger, J. M., Kill, I. R., O'Farrell, M., and Hutchison, C. J. (1993). Internal lamin structures within G1 nuclei of human dermal fibroblasts. J. Cell Sci. 104 (Pt. 2), 297-306.
7. Byrne, C. (1997). Regulation of gene expression in developing epidermal epithelia. Bioessays 19, 691-698.
8. Cassidy, A. J., Lane, E. B., Irvine, A. D., and McLean, W. H. I. (2002). "The Human Intermediate Filament Mutation Database." http://www.interfil.org.
9. Caulin, C., Ware, C. F., Magin, T. M., and Oshima, R. G. (2000). Keratin-dependent, epithelial resistance to tumor necrosis factor-induced apoptosis. J. Cell Biol. 149, 17-22.
10. Collin, C., Moll, R., Kubicka, S., Ouhayoun, J. P., and Franke, W. W. (1992). Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation. Exp. Cell Res. 202, 132-141.
11. Coulombe, P. A. (2003). Wound epithelialization: Accelerating the pace of discovery. J. Invest. Dermatol. 121, 219-230.
12. Coulombe, P. A., and Bernot, K. M. (2004). Keratins and the skin. In "Encyclopedia of biological chemistry," (W. Lennarz and M. D. Lane, eds.), vol. 2 pp. 497-504. Elsevier, Oxford.
13. Coulombe, P. A., Hutton, M. E., Letai, A., Hebert, A., Palier, A. S., and Fuchs, E. (1991). Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses. Cell 66, 1301-1311.
14. Coulombe, P. A., Hutton, M. E., Vassar, R., and Fuchs, E. (1991). A function for keratins and a common thread among different types of epidermolysis bullosa simplex diseases. J. Cell Biol. 115, 1661-1674.
15. Coulombe, P. A., Kopan, R., and Fuchs, E. (1989). Expression of keratin K14 in the epidermis and hair follicle: Insights into complex programs of differentiation. J. Cell Biol. 109, 2295-2312.
16. Coulombe, P. A., Ma, L., Yamada, S., and Wawersik, M. (2001). Intermediate filaments at a glance. J. Cell Sci. 114, 4345-1347.
17. Coulombe, P. A., and McGowan, K. (2000). Morphogenesis of skin epithelia. In "Cell polarity," (D. G. Drubin, ed.), pp. 285-313. Oxford University Press, Oxford.
18. Coulombe, P. A., and Omary, M. B. (2002). 'Hard' and 'soft' principles defining the structure, function and regulation of keratin intermediate filaments. Curr. Opin. Cell Biol. 14, 110-122.
19. Coulombe, P. A., and Omary, M. B. (2002). Hard and soft principles defining the structure, function and regulation of keratin intermediate filaments. Curr. Opin. Cell Biol. 14, 110-122.
20. Coulombe, P. A., and Wong, P. (2004). Cytoplasmic intermediate filaments revealed as dynamic and multipurpose scaffolds. Nat. Cell Biol 6, 699-706.
21. Fuchs, E. (1994). Intermediate filaments and disease: Mutations that cripple cell strength, [review]. J. Cell Biol. 125, 511-516.
22. Fuchs, E. (1995). Keratins and the skin. Ann. Rev. Cell Der. Biol. 11, 123-153.
23. Fuchs, E., and Cleveland, D. W. (1998). A structural scaffolding of intermediate filaments in health and disease. Science 279, 514-519.
24. Fuchs, E., and Green, H. (1980). Changes in keratin gene expression during terminal differentiation of the keratinocyte. Cell 19, 1033-1042.
25. Gilbert, S., Loranger, A., Daigle, N., and Marceau, N. (2001). Simple epithelium keratins 8 and 18 provide resistance to Fas-mediated apoptosis. The protection occurs through a receptor-targeting modulation. J. Cell Biol. 154, 763-774.
26. Green, K. J., and Gaudry, C. A. (2000). Are desmosomes more than tethers for intermediate filaments? Nat. Rev. Mol. Cell Biol. 1, 208-216.
27. Hager, B., Bickenbach, J. R., and Fleckman, P. (1999). Long-term culture of murine epidermal keratinocytes. J. Invest. Dermal. 112, 971-976.
28. Hayat, M. A. (2000). Principles and techniques of electron microscopy: Biological applications. Cambridge University Press, Cambridge, UK
29. Hennings, H., and Holbrook, K. A. (1983). Calcium regulation of cell-cell contact and differentiation of epidermal cells in culture. Exp. Cell Res. 143, 127-142.
30. Hennings, H., Michael, D., Cheng, C, Steinert, P., Holbrook, K., and Yuspa, S. H. (1980). Calcium regulation of growth and differentiation of mouse epidermal cells in culture. Cell 19, 245-254.
31. Hesse, M., Franz, T., Tamai, Y., Taketo, M. M., and Magin, T. M. (2000). Targeted deletion of keratins 18 and 19 leads to trophoblast fragility and early embryonic lethality. EMBO J. 19, 5060-5070.
32. Hesse, M., Magin, T. M., and Weber, K. (2001). Genes for intermediate filament proteins and the draft sequence of the human genome: Novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18. J. Cell Sci. 114, 2569-2575.
33. Hesse, M., Zimek, A., Weber, K., and Magin, T. M. (2004). Comprehensive analysis of keratin gene clusters in humans and rodents. Eur. J. Cell Biol. 83, 19-26.
34. Holbrook, K. A., and Wolff, K. (1993). The structure and development of skin. In "Dermatology in general medicine." (T. B. Fitzpatrick, A. Z. Eisen, K. Wolff, I. M. Freedberg, and M. D. Austen, eds.), pp. 97-144. McGraw-Hill, New York.
35. Inada, H., Izawa, I., Nishizawa, M., Fujita, E., Kiyono, T., Takahashi, T., Momoi, T., and Inagaki, M. (2001). Keratin attenuates tumor necrosis factor-induced cytotoxicity through association with TRADD. J. Cell Biol. 155, 415-426.
36. Irvine, A. D., and McLean, W. H. (1999). Human keratin diseases: The increasing spectrum of disease and subtlety of the phenotype-genotype correlation. Br. J. Dermatol. 140, 815-828.
37. Jaquemar, D., Kupriyanov, S., Wankell, M., Avis, J., Benirschke, K., Baribault, H., and Oshima, R. G. (2003). Keratin 8 protection of placental barrier function. J. Cell Biol. 161, 749-756.
38. Jones, L. C. R., Hopkinson, S. B., and Goldfinger, L. E. (1998). Structure and assembly of hemidesmosomes. Bioessays 20, 488-494.
39. Kamimura, J., Lee, D., Baden, H. P., Brissette, J., and Dotto, G. P. (1997). Primary mouse keratinocyte cultures contain hair follicle progenitor cells with multiple differentiation potential. J. Invest. Dermatol. 109, 534-540.
40. Karabinos, A., Zimek, A., and Weber, K. (2004). The genome of the early chordate Ciona intestinalis encodes only five cytoplasmic intermediate filament proteins including a single type I and type II keratin and a unique IF-annexin fusion protein. Gene 326, 123-129.
41. Knapp, A. C., Franke, W. W., Heid, H., Hatzfeld, M., Jorcano, J. L., and Moll, R. (1986). Cytokeratin No. 9, an epidermal type I keratin characteristic of a special program of keratinocyte differentiation displaying body site specificity. J. Cell Biol. 103, 657-667.
42. Ku, N. O., Michie, S., Oshima, R. G., and Omary, M. B. (1995). Chronic hepatitis, hepatocyte fragility, and increased soluble phosphoglycokeratins in transgenic mice expressing a keratin 18 conserved arginine mutant. J. Cell Biol. 131, 1303-1314.
43. Lane, E. B., Rugg, E. L., Navsaria, H., Leigh, I. M., Heagerty, A. H., Ishida, Y. A., and Eady, R. A. (1992). A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature 356, 244-246.
44. Langbein, L., Heid, H. W., Moll, I., and Franke, W. W. (1994). Molecular characterization of the body site-specific human epidermal cytokeratin 9: CDNA cloning, amino acid sequence, and tissue specificity of gene expression. Differentiation 55, 164.
45. Langbein, L., Rogers, M. A., Praetzel, S., Winter, H., and Schweizer, J. (2003). K6irs1, K6irs2, K6irs3, and K6irs4 represent the inner-root-sheath- specific type II epithelial keratins of the human hair follicle. J. Invest. Dermatol. 120, 512-522.
46. Langbein, L., Rogers, M. A., Winter, H., Praetzel, S., and Schweizer, J. (2001). The catalog of human hair keratins. II. Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins. J. Biol. Chem. 276, 35123-35132.
47. Langbein, L., Rogers, M. A., Winter, H., Praetzel, S., Beckhaus, U., Rackwitz, H. R., and Schweizer, J. (1999). The catalog of human hair keratins. I. Expression of the nine type I members in the hair follicle. J. Biol. Chem. 274, 19874-19884.
48. Lloyd, C., Yu, Q. C., Cheng, J., Turksen, K.; Degenstein, L., Hutton, E., and Fuchs, E. (1995). The basal keratin network of stratified squamous epithelia: Defining K15 function in the absence of K14. J. Cell Biol. 129, 1329-1344.
49. Loranger, A., Duclos, S., Grenier, A., Price, J., Wilson-Heiner, M., Baribault, H., and Marceau, N. (1997). Simple epithelium keratins are required for maintenance of hepatocyte integrity. Am. J. Pathol. 151, 1673-1683.
50. Lowthert, L. A., Ku, N. O., Liao, J., Coulombe, P. A., and Omary, M. B. (1995). Empigen BB: A useful detergent for solubilization and biochemical analysis of keratins. Biochem. Biophys. Res. Commun. 206(1), 370-379.
51. Ma, L., Yamada, S., Wirtz, D., and Coulombe, P. A. (2001). A 'hot-spot' mutation alters the mechanical properties of keratin filament networks. Nat. Cell Biol. 3, 503-506.
52. Magin, T. M., Hesse, M., and Schroder, R. (2000). Novel insights into interemdiate filament function from studies of transgenic and knockout mouse. Protoplasma 211, 140-150.
53. Marceau, N., Loranger, A., Gilbert, S., Daigle, N., and Champetier, S. (2001). Keratin-mediated resistance to stress and apoptosis in simple epithelial cells in relation to health and disease. Biochem. Cell Biol. 79, 543-555.
54. Mazzalupo, S., Wawersik, M. J., and Coulombe, P. A. (2002). An ex vivo assay to assess the potential of skin keratinocytes for wound epithelialization. J. Invest. Dermatol. 118(5), 866-870.
55. McGowan, K. M., Tong, X., Colucci-Guyon, E., Langa, F., Babinet, C., and Coulombe, P. A. (2002). Keratin 17 null mice exhibit age- and strain-dependent alopecia. Genes Dev. 16, 1412-1422.
56. Moll, R., Franke, W. W., Schiller, D. L., Geiger, B., and Krepier, R. (1982). The catalog of human cytokeratins: Patterns of expression in normal epithelia, tumors and cultured cells. Cell 31, 11-24.
57. Muller-Rover, S., Handjiski, B., van der Veen, C., Eichmuller, S., Foitzik, K., McKay, I. A., Stenn, K. S., and Paus, R. (2001). A comprehensive guide for the accurate classification of murine hair follicles in distinct hair cycle stages. J. Invest. Dermatol. 117, 3-15.
58. Nelson, W. G., and Sun, T. T. (1983). The 50- and 58-kdalton keratin classes as molecular markers for stratified squamous epithelia: Cell culture studies. J. Cell Biol. 97, 244-251.
59. Omary, M. B., Coulombe, P. A., and McLean, W. H. I. (2004). Intermediate filaments and their associated diseases. N. Engl. J. Med. Invited review. In press.
60. Osborn, M., and Weber, K. (1983). Tumor diagnosis by intermediate filaments typing: A novel tool for surgical pathology. Lab. Invest. 48, 372-393.
61. Oshima, R. G. (1992). Intermediate filament molecular biology. Curr. Opin. Cell Biol. 4, 110-116.
62. Oshima, R. G. (2002). Apoptosis and keratin intermediate filaments. Cell Death Differ. 9, 486-492.
63. Paus, R., Muller-Rover, S., Van Der Veen, C., Maurer, M., Eichmuller, S., Ling, G., Hofmann, U., Foitzik, K., Mecklenburg, L., and Handjiski, B. (1999). A comprehensive guide for the recognition and classification of distinct stages of hair follicle morphogenesis. J. Invest. Dermatol. 113, 523-532.
64. Porter, R. M., Lunny, D. P., Ogden, P. H., Morley, S. M., McLean, W. H., Evans, A., Harrison, D. L., Rugg, E. L., and Lane, E. B. (2000). K15 expression implies lateral differentiation within stratified epithelial basal cells. Lab. Invest. 80, 1701-1710.
65. Rouabhia, M., Germain, L., Belanger, F., Guignard, R., and Auger, F. A. (1992). Optimization of murine keratinocyte culture for the production of graftable epidermal sheets. J. Dermatol. 19, 325-334.
66. Sambrook, J., Fritsch, E. F., and Maniatis, T. (1989). "Molecular cloning: A laboratory manual." Cold Spring Harbor Laboratory, Cold Spring Harbor, N. Y.
67. Sengel, P. (1976). "The morphogenesis of skin." Cambridge University Press, Cambridge.
68. Stark, H. J., Breikreutz, D., Limat, A., Bowden, P., and Fusenig, N. E. (1987). Keratins of the human hair follicle: "Hyperproliferative" keratins consistently expressed in outer rrot sheat cells in vivo and in vitro Differentiation 35, 236-248.
69. Steinert, P. M., and Roop, D. R. (1988). Molecular and cellular biology of intermediate filaments. Annu. Rev. Biochem. 57, 593-625.
70. Swensson, O., Langbein, L., McMillan, J. R., Stevens, H. P., Leigh, I. M., McLean, W. H., Lane, E. B., and Eady, R. A. (1998). Specialized keratin expression pattern in human ridged skin as an adaptation to high physical stress. Br. J. Dermatol. 139, 767-775.
71. Takahashi, K., Coulombe, P. A., and Miyachi, Y. (1999). Using transgenic models to study the pathogenesis of keratin-based inherited skin disease. J. Dermatol. Sci. 21, 73-95.
72. Tamai, Y., Ishikawa, T., Bosl, M. R., Mori, M., Nozaki, M., Baribault, H., Oshima, R. G., and Taketo, M. M. (2000). Cytokeratins 8 and 19 in the mouse placental development. J. Cell Biol. 151, 563-572.
73. Tong, X., and Coulombe, P. A. (2004). A novel mouse type I intermediate filament gene, keratin 17n (K17n), exhibits preferred expression in nail tissue. J. Invest. Dermatol. 122, 965-970.
74. Vassar, R., Coulombe, P. A., Degenstein, L., Albers, K., and Fuchs, E. (1991). Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease. Cell 64, 365-380.
75. Wang, Z., Wong, P., Langbein, L., Schweizer, J., and Coulombe, P. A. (2003). Type II epithelial keratin 6hf (K6hf) is expressed in the companion layer, matrix, and medulla in anagen-stage hair follicles. J. Invest. Dermatol 121, 1276-1282.
76. Wawersik, M., and Coulombe, P. A. (2000). Forced expression of keratin 16 alters the adhesion, differentiation, and migration of mouse skin keratinocytes. Mol. Biol. Cell 11, 3315-3327.
77. Wong, P., and Coulombe, P. A. (2003). Loss of keratin 6 (K6) proteins reveals a function for intermediate filaments during wound repair. J. Cell Biol. 163, 327-337.
78. Woodcock-Mitchell, J., Eichner, R., Nelson, W. G., and Sun, T. T. (1982). Immunolocalization of keratin polypeptides in human epidermis using monoclonal antibodies. J. Cell Biol. 95, 580-588.
79. Yuspa, S. H., Kilkenny, A. E., Steinert, P. M., and Roop, D. R. (1989). Expression of murine epidermal differentiation markers is tightly regulated by restricted extracellular calcium concentrations in vitro. J. Cell Biol. 109, 1207-1217.