Structural organization of cornified cell envelopes and alterations in inherited skin disorders

Experimental Dermatology

Volumn 7, Issue 1, 1998, Pages 1-10

  Ishida Yamamoto, Akemi ^a   Iizuka, Hajime ^a  

^a ASAHIKAWA MEDICAL COLLEGE   (Japan)

Author keywords

Erythrokeratoderma; Lamellar ichthyosis; Loricrin; Transglutaminase; Vohwinkel's syndrome

Indexed keywords

CYSTATIN; ELAFIN; INVOLUCRIN; LORICRIN; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE; PROTEIN S 100;

CELL DIFFERENTIATION; CELL MEMBRANE; DESMOSOME; GENE MUTATION; HUMAN; KERATINOCYTE; KERATODERMA; MEMBRANE STRUCTURE; PATHOPHYSIOLOGY; PROTEIN CROSS LINKING; REVIEW; SKIN DISEASE;

EID: 0031882479     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0625.1998.tb00295.x     Document Type: Review

References (139)

1. Huber M, Rettler I, Bernasconi K et al. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 1995: 267: 525-528.
2. Russell L J, DiGiovanna J J, Rogers G R et al. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet 1995: 9: 279-283.
3. Maestrini E, Monaco A P, McGrath J A et al. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nat Genet 1996: 13: 70-77.
4. Ishida-Yamamoto A, McGrath J A, Lam H, Iizuka H, Friedman R A, Christiano A M. The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope. Am J Hum Genet 1997: in press.
5. Hohl D. Cornified cell envelope. Dermatologica 1990: 180: 201-211.
6. Polakowska R R, Goldsmith L A. The cell envelope and transglutaminase. In: Goldsmith LA, ed. Biochemistry, physiology and molecular biology of the skin. New York, Oxford: Oxford University Press, 1991: 168-201.
7. Simon M. The epidermal cornified envelope and its precursors. In: Leigh IM, Lane EB, Watt FM, ed. The Keratinocyte Handbook. Cambridge: Cambridge University Press, 1994: 275-292.
8. Eckert R L, Crish J F, Robinson N A. The epidermal keratinocytes as a model for the study of gene regulation and cell differentiation. Physiol Rev 1997: 77: 397-424.
9. Reichert U, Michel S, Schmidt R. The cornified envelope: a key structure of terminally differentiating keratinocytes. In: Darmon M, Blumenberg M, eds. Molecular biology of the skin. The keratinocytes. San Diego: Academic Press, 1993: 107-150.
10. Hashimoto K. Cellular envelopes of keratinized cells of the human epidermis. Arch Clin Exp Derm 1969: 235: 374-385.
11. Brody I. The modified plasma membranes of the transition and horny cells in normal human epidermis as revealed by electron microscopy. Acta Derm Venereol 1969: 49: 128-138.
12. Ishida-Yamamoto A, Iizuka H. Differences in involucrin immunolabeling within cornified cell envelopes in normal and psoriatic epidermis. J Invest Dermatol 1995: 104: 391-395.
13. Robinson N A, Lapic S, Welter J F, Eckert R L. S100A11, S100A10, annexin I, desmosomal proteins, small proline-rich proteins, plasminogen activator inhibitor-2, and involucrin are components of the cornified envelope of cultured human epidermal keratinocytes. J Biol Chem 1997: 272: 12035-12046.
14. Steinert P M, Marekov L N. 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 1995: 270: 17702-17711.
15. Steinert P M, Marekov L N. Direct evidence that involucrin is a major early isopeptide cross-linked component of the keratinocyte cornified cell envelope. J Biol Chem 1997: 272: 2021-2030.
16. Yamada H, Takamori K, Ogawa H. Localization and some properties of skin sulfhydryl oxidase. Arch Dermatol Res 1987: 279: 194-197.
17. 8-Bis (γ-glutamyl) spermidine cross-linking in epidermal-cell envelopes. Comparison of cross-link levels in normal and psoriatic cell envelopes. Biochem J 1990: 271: 305-308.
18. Rice R H, Mehrpouyan M, Qin Q, Phillips M A. Transglutaminases in keratinocytes. In: Leigh I M, Lane E B, Watt F M, eds. The Keratinocyte Handbook. Cambridge: Cambridge University Press, 1994: 259-274.
19. Swartzendruber D C, Wertz P W, Madison K C, Downing D T Evidence that the corneocyte has a chemically bound lipid envelope. J Invest Dermatol 1987: 88: 709-713.
20. Michel S, Schmidt R, Robinson S M, Shroot B, Reichert U. Identification and subcellular distribution of cornified envelope precursor proteins in the transformed human keratinocyte line SV-K14. J Invest Dermatol 1987: 88: 301-305.
21. Eckert R L, Yaffe M B, Crish J F, Murthy S, Rorke E A, Welter J F. Involucrin - structure and role in envelope assembly. J Invest Dermatol 1993: 100: 613-617.
22. Steinert P M. A model for the hierarchical structure of the human epidermal cornified cell envelope. Cell Death Differ 1995: 2: 33-40.
23. Ishida-Yamamoto A, Eady R A J, Watt F M, Roop D R, Hohl D, Iizuka H. Immunoelectron microscopic analysis of cornified cell envelope formation in normal and psoriatic epidermis. J Histochem Cytochem 1996: 44: 167-175.
24. Ishida-Yamamoto A, Kartasova T, Matuo S, Kuroki T, Iizuka H. Involucrin and SPRR are synthesized sequentially in differentiating cultured epidermal cells. J Invest Dermatol 1997: 108: 12-16.
25. Hohl D, Olano B R, de Viragh P A et al. Expression patterns of loricrin in various species and tissues. Differentiation 1993: 54: 25-34.
26. Hohl D, de Viragh P A, Amiguet-Barras F, Gibbs S, Backendorf C, Huber M. The small proline-rich proteins constitute a multigene family of differentially regulated cornified cell envelope precursor proteins. J Invest Dermatol 1995: 104: 902-909.
27. Takahashi M, Tezuka T, Katsunuma N. Inhibition of growth and cysteine proteinase activity of Staphylococcus aureus V8 by phosphorylated cystatin alpha in skin cornified envelope. FEBS Lett 1994: 355: 275-278.
28. Kartasova T, Darwiche N, Kohno Y et al. Sequence and expression patterns of mouse SPR1: correlation of expression with epithelial function. J Invest Dermatol 1996: 106: 294-304.
29. Rice R H, Mehrpouyan M, O'Callahan W, Parenteau N L, Rubin A L. Keratinocyte transglutaminase: differentiation marker and member of an extended family. Epith Cell Biol 1992: 1: 128-137.
30. Thacher S M, Rice R H. Keratinocyte-specific transglutaminase of cultured human epidermal cells: relation to cross-linked envelope formation and terminal differentiation. Cell 1985: 40: 685-695.
31. Vijayalakshmi V, Gupta P D. Estradiol-regulated transamidation of keratins by vaginal epithelial cell transglutaminase. Exp Cell Res 1994: 214: 358-366.
32. Phillips M A, Stewart B E, Qin Q et al. Primary structure of keratinocyte transglutaminase. Proc Natl Acad Sci USA 1990: 87: 9333-9337.
33. Kim H C, Idler W W, Kim I G, Han J H, Chung S I, Steinert P M. The complete amino acid sequence of the human transglutaminase K enzyme deduced from the nucleic acid sequences of cDNA clones. J Biol Chem 1991: 266: 536-539.
34. Polakowska R, Herting E, Goldsmith L A. Isolation of cDNA for human epidermal type I transglutaminase. J Invest Dermatol 1991: 96: 285-288.
35. Phillips M, Qin Q, Mehrpouyan M, Rice R H. Keratinocyte transglutaminase membrane anchorage: analysis of site-directed mutants. Biochem 1993: 32: 11057-11063.
36. Yamanishi KL, Liew F M, Konishi K et al. Molecular cloning of human epidermal transglutaminase cDNA from keratinocytes in culture. Biochem Biophys Res Comm 1991: 175: 906-913.
37. Phillips M A, Stewart B E, Rice R H. Genomic structure of keratinocyte transglutaminase. Recruitment of new exon for modified function. J Biol Chem 1992: 267: 2282-2286.
38. Rice R H, Rong X, Chakravarty R. Protoelytic release of keratinocyte transglutaminase. Biochem J 1990: 265: 351-357.
39. Steinen P M, Kim S-Y, Chung S-I, Marekov L N. The transglutaminase 1 enzyme is variably acylated by myristate and palmitate during differentiation in epidermal keratinocytes. J Biol Chem 1996: 271: 26242-26250.
40. Kim S-Y, Chung S-I, Steinert P M. Highly active soluble processed forms of the transglulaminase 1 enzyme in epidermal keratinocytes. J Biol Chem 1995: 270: 18026-18035.
41. Kim S-Y, Kim I-G, Chung S-I, Steinert P M. The structure of the transglutaminase 1 enzyme. Deletion cloning reveals domains that regulate its specific activity and substrate specificity. J Biol Chem 1994: 269: 27979-27986.
42. Kim S-Y, Chung S-I, Yoneda K, Steinert P M. Expression of transglutaminase 1 in human epidermis. J Invest Dermatol 1995: 104: 211-217.
43. Schroeder W T, Thacher S M, Stewert-Galetka S et al. Type I keratinocyte transglutaminase: expression in human skin and psoriasis. J Invest Dermatol 1992: 99: 27-34.
44. Michel S, Bernerd F, Jetten A M, Floyd E E, Shroot B, Reichert U. Expression of keratinocyte transglutaminase mRNA revealed by in situ hybridization. J Invest Dermatol 1992: 98: 364-368.
45. Floyd E E, Jetten A M. Regulation of type 1 (epidermal) transglutaminase mRNA levels during squamous differentiation: down regulation by retinoid. Mol Cell Biol 1989: 9: 4846-4951.
46. Liew F-M, Yamanishi K. Regulation of transglutaminase 1 gene expression by 12-O-tetradecanoylphorbol-13-acetate, dexamethasone, and retinoic acid in cultured human keratinocytes. Exp Cell Res 1992: 202: 310-315.
47. Yamada K, Yamanishi K, Kakizuka A, Kibe Y, Doi H, Yasuno H. Transcriptional regulation of human transglutaminase 1 gene by signaling systems of protein kinase S, RAR/RXR and Jun/Fos in keratinocytes. Biochem Mol Biol Int 1994: 34: 827-836.
48. K) gene expression in cultured primary mouse epidermal keratinocytes induced to terminally differentiate by calcium. J Invest Dermatol 1994: 102: 409-414.
49. Mariniello L, Qin Q, Jessen B A, Rice R H. Keratinocyte transglutaminase promoter analysis. Identification of a functional response element. J Biol Chem 1995: 270: 31358-31363.
50. Yamanishi K, Inazawa J, Liew F-M et al. Structure of the gene for human transglutaminase 1. J Biol Chem 1992: 267: 17858-17863.
51. Negi M, Colbert M C, Goldsmith L A. High-molecular-weight human epidermal transglutaminase. J Invest Dermatol 1985: 85: 75-78.
52. Kim H C, Lewis M S, Gorman J J et al. Protransglutaminase E from guinea pig skin. Isolation and partial characterization. J Biol Chem 1990: 265: 21971-21978.
53. Kim I-G, Gorman J J, Park S-C, Chung S-I, Steinert P M. The deduced sequence of the novel protransglutaminase E (TGase 3) of human and mouse. J Biol Chem 1993: 268: 12682-12690.
54. Lee J-H, Jang S-I, Yang J-M, Markova N G, Steinert P M. The proximal promoter of the human transglutaminase 3 gene. Stratified squamous epithelial-specific expression in cultured cells is mediated by binding of Sp1 and ets transcription factors to a proximal promoter element. J Biol Chem 1996: 271: 4561-4568.
55. Wang M, Kim I-G, Steinert P M, McBride O W. Assignment of the human transglutaminase 2 (TGM2) and transglutaminase 3 (TGM3) genes to chromosome 20q11.2. Genomics 1994: 23: 721-722.
56. Candi E, Melino G, Mei G et al. Biochemical, structural, and transglutaminase substrate properties of human loricrin, the major epidermal cornified cell envelope protein. J Biol Chem 1995: 270: 26382-26390.
57. Simon M, Green H. Participation of membrane-associated proteins in the formation of the cross-linked envelope of the keratinocyte. Cell 1984: 36: 827-834.
58. Rice R H, Green H. Presence in human epidermal cells of a soluble protein precursor of the cross-linked envelope: activation of the cross-linking by calcium ions. Cell 1979: 18: 681-694.
59. Eckert R L, Green H. Structure and evolution of the human involucrin gene. Cell 1986: 46: 583-589.
60. Yaffe M B, Murthy S, Eckert R L. Evidence that involucrin is a covalently linked constituent of highly purified cultured keratinocyte cornified envelopes. J Invest Dermatol 1993: 100: 3-9.
61. Robinson N A, LaCelle P T, Eckert R L. Involucrin is a covalently crosslinked constituent of highly purified epidermal corneocytes: Evidence for a common pattern of involucrin crosslinking in vivo and in vitro. J Invest Dermatol 1996: 107: 101-107.
62. Steven A C, Steinert P M. Protein composition of cornified cell envelopes of epidermal keratinocytes. J Cell Sci 1994: 107: 693-700.
63. Yaffe M B, Beegen H, Eckert R L. Biophysical characterization of involucrin reveals a molecule ideally suited to function as an intermolecular cross-bridge of the keratinocyte cornified envelope. J Biol Chem 1992: 267: 12233-12238.
64. Simon M, Green H. Enzymatic cross-linking of involucrin and other proteins by keratinocyte particulates in vitro. Cell 1985: 40: 677-683.
65. Simon M, Green H. The glutamine residues reactive in transglutaminase-catalyzed cross-linking of involucrin. J Biol Chem 1988: 263: 18093-18098.
66. Cline P R, Rice R H. Modulation of involucrin and envelope competence in human keratinocytes by hydrocortisone, retinyl acetate, and growth arrest. Cancer Res 1983: 43: 3203-3207.
67. Younus J, Gilchrest B A. Modulation of mRNA levels during human keratinocyte differentiation. J Cell Physiol 1992: 152: 232-239.
68. 3 potentiates the keratinocyte response to calcium. J Biol Chem 1994: 269: 14723-14729.
69. Takahashi H, Iizuka H. Analysis of the 5′-upstream promoter region of human involucrin gene: activation by 12-O-tetradecanoylphorbol-13-acetate. J Invest Dermatol 1993: 100: 10-15.
70. Welter J F, Crish J F, Agarwal C, Eckert R L. Fos-related antigen (Fra-1), junB, and junD activate human involucrin promoter transcription by binding to proximal and distal AP1 sites to mediate phorbol ester effects on promoter activity. J Biol Chem 1995: 270: 12614-12622.
71. Welter J F, Gali H. Crish J F, Eckert R L. Regulation of human involucrin promoter activity by POU domain proteins. J Biol Chem 1996: 271: 14727-14733.
72. Monzon R I, LaPres J J, Hudson L G. Regulation of involucrin gene expression by retinoic acid and glucocorticoids. Cell Growth Differ 1996: 7: 1751-1759.
73. Lopez-Bayghen E, Vega A, Cadena A et al. Transcriptional analysis of the 5′-noncoding region of the human involucrin gene. J Biol Chem 1996: 271: 512-520.
74. Carroll J M, Albers K M, Garlick J A, Harrington R, Taichman L B. Tissue- and stratum-specific expression of the human involucrin promoter in transgenic mice. Proc Natl Acad Sci USA 1993: 90: 10270-10274.
75. LaPres J J, Hudson L G. Identification of a functional determinant of differentiation-dependent expression in the involucrin gene. J Biol Chem 1996: 271: 23154-23160.
76. Volz A, Korge B P, Compton J G, Ziegler A, Steinert P M, Mischke D. Physical mapping of a functional cluster of epidermal differentiation genes on chromosome 1q21. Genomics 1993: 18: 92-99.
77. Gibbs S, Fijneman R, Wiegant J, van Kessel A G, van de Putte P, Backendorf C. Molecular characterization and evolution of the SPRR family of keratinocyte differentiation markers encoding small proline-rich proteins. Genomics 1993: 16: 630-637.
78. Mischke D, Korge B P, Marenholz I, Volz A, Ziegler A. Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex ("epidermal differentiation complex") on human chromosome 1q21. J Invest Dermatol 1996: 106: 989-992.
79. Rawlings N D, Barrett A J. Evolution of proteins of the cystatin superfamily. J Mol Evol 1990: 30: 60-71.
80. Järvinen M, Rinne A, Hopsu-Havu V K. Human cystatins in normal and diseased tissues - a review. Acta Histochem 1987: 82: 5-18.
81. Takahashi M, Tezuka T, Katunuma N. Phosphorylated cystatin a is a natural substrate of epidermal transglutaminase for formation of skin cornified envelope. FEBS Lett 1992: 308: 79-82.
82. Zettergren J G, Peterson L L, Wuepper K D. Keratolinin: the soluble substrate of epidermal transglutaminase from human and bovine tissue. Proc Natl Acad Sci USA 1984: 81: 238-242.
83. 2-terminal region of the cysteine proteinase inhibitor is essential for expression of its inhibitory activity. Biochem 1995: 34: 12185-12192.
84. 2-, TPA, and cAMP. J Invest Dermatol 1997: 108: 843-847.
85. Hsieh W T, Fong D, Sloane B F, Golembieski W, Smith D I. Mapping of the gene for human cysteine proteinase inhibitor stefin A, STF1, to chromosome 3cen-q21. Genomics 1991: 9: 207-209.
86. Hohl D, Mehrel T, Lichti U, Turner M L, Roop D R, Steinert P M. Characterization of human loricrin. Structure and function of a new class of epidermal cell envelope proteins. J Biol Chem 1991: 266: 6626-6636.
87. Mehrel T, Hohl D, Rothnagel J A et al. Identification of a major keratinocyte cell envelope protein, loricrin. Cell 1990: 61: 1103-1112.
88. Yoneda K, Hohl D, McBride O W et al. The human loricrin gene. J Biol Chem 1992: 267: 18060-18066.
89. Steinert P M, Mack J W, Korge B P, Gan S-Q, Haynes S R, Steven A C. Glycine loops in proteins: their occurrence in certain intermediate filament chains, loricrins and single-stranded RNA binding proteins. Int J Biol Macromol 1991: 13: 130-139.
90. Steven A C, Bisher M E, Roop D R, Steinert P M. Biosynthetic pathways of filaggrin and loricrin - two major proteins expressed by terminally differentiated epidermal keratinocytes. J Struct Biol 1990: 104: 150-162.
91. Ishida-Yamamoto A, Hohl D, Roop D R, Iizuka H, Eady R A J. Loricrin immunoreactivity in human skin: Localization to specific granules (L-granules) in acrosyringia. Arch Dermatol Res 1993: 285: 491-498.
92. Hohl D, Lichti U, Breitkreutz D, Steinert P M, Roop D R. Transcription of the human loricrin gene in vitro is induced by calcium and cell density and suppressed by retinoic acid. J Invest Dermatol 1991: 96: 414-418.
93. Dlugosz A A, Yuspa S H. Coordinate changes in gene expression which mark the spinous to granular cell transition in epidermis are regulated by protein kinase C. J Cell Biol 1993: 120: 217-225.
94. DiSepio D, Jones A, Longley M A, Bundman D, Rothnagel J A, Roop D R. The proximal promoter of the mouse loricrin gene contains a functional AP-1 element and directs keratinocyte-specific but not differentiation-specific expression. J Biol Chem 1995: 270: 10792-10799.
95. Kartasova T, van Muijen G N P, van Pelt-Heerschap H, van de Putte P. Novel protein in human epidermal keratinocytes: regulation of expression during differentiation. Mol Cell Biol 1988: 8: 2204-2210.
96. Kartasova T, van de Putte P. Isolation, characterization, and UV-stimulated expression of two families of genes encoding polypeptides of related structure in human epidermal keratinocytes. Mol Cell Biol 1988: 8: 2195-2203.
97. Phillips S B, Kubilus J, Grassi A M, Goldaber M L, Baden H P. The pancornulins: a group of basic low molecular weight proteins in mammalian epidermis and epithelium that may function as cornified envelope precursors. Comp Biochem Physiol 1990: 95B: 781-788.
98. Marvin K W, George M D, Fujimoto W, Saunders N A, Bernacki S H, Jetten A M. Cornifin, a cross-linked envelope precursor in keratinocytes that is down-regulated by retinoids. Proc Natl Acad Sci USA 1992: 89: 11026-11030.
99. Austin S J, Fujimoto W, Marvin K W, Vollberg T M, Lorand L, Jetten A M. Cloning and regulation of cornifin β, a new member of the cornifin/spr family. Suppression by retinoic acid receptor-selective retinoid. J Biol Chem 1996: 271: 3737-3742.
100. Greco M A, Lorand L, Lane W S, Baden H P, Parameswaran K N P, Kvedar J C. The pancornulins: a group of small proline rich-related cornified envelope precursors with bifunctional capabilities in isopeptide bond formation. J Invest Dermatol 1995: 104: 204-210.
101. Fujimoto W, Nakanishi G, Arata J, Jetten A M. Differential expression of human cornifin α and β in squamous differentiating epithelial tissues and several skin lesions. J Invest Dermatol 1997: 108: 200-204.
102. Yaar M, Eller M S, Bhawan J, Harkness D D, DiBenedetto P J, Gilchrest B A. In vivo and in vitro SPRR1 gene expression in normal and malignant keratinocytes. Exp Cell Res 1995: 217: 217-226.
103. An G, Tesfaigzi J, Chuu Y-J, Wu R. Isolation and characterization of the human spr1 gene and its regulation of expression by phorbol ester and cyclic AMP. J Biol Chem 1993: 268: 10977-10982.
104. Reddy S P M, Chuu Y-J, Lao P N, Donn J, Ann D K, Wu R. Expression of human squamous cell differentiation marker, SPR1, in tracheobronchial epithelium depends on JUN and TRE motifs. J Biol Chem 1995: 270: 26451-26459.
105. Fisher D F, Gibbs S, van de Putte P, Backendorf C. Interdependent transcription control elements regulate the expression of the SPRR2A gene during keratinocyte terminal differentiation. Mol Cell Biol 1996: 16: 5365-5374.
106. Wiedow O, Schröder J-M, Gregory H, Young J A, Christophers E. Elafin: an elastase-specific inhibitor of human skin. Purification, characterization, and complete amino acid sequence. J Biol Chem 1990: 265: 14791-14795.
107. Schalkwijk J, de Roo C, de Jongh G J. Skin-derived antileukoproteinase (SKALP), an elastase inhibitor from human keratinocytes. Purification and biochemical properties. Biochim Biophys Acta 1991: 1096: 148-154.
108. Wiedow O, Lüdemann J, Utecht B. Elafin is a potent inhibitor of proteinase 3. Biochem Biophys Res Comm 1991: 174: 6-10.
109. Pfundt R, van Ruissen F, van Vlijmen-Willems I M J J et al. Constitutive and inducible expression of SKALP/elafin provides anti-elastase defense in human epithelia. J Clin Invest 1996: 98: 1389-1399.
110. Saheki T, Ito F, Hagiwara H et al. Primary structure of the human elafin precursor preproelafin deduced from the nucleotide sequence of its gene and the presence of unique repetitive sequences in the prosegment. Biochem Biophys Res Commun 1992: 185: 240-245.
111. Sallenave J-M, Silva A. Characterization and gene sequence of the precursor of elafin, an elastase-specific inhibitor in bronchial secretions. Am J Respir Cell Mol Biol 1993: 8: 439-445.
112. Molhuizen H O F, Alkemade H A C, Zeeuwen P L J M, de Jongh G J, Wieringa B, Schalkwijk J. SKALP/Elafin: an elastase inhibitor from cultured human keratinocytes. Purification, cDNA sequence, and evidence for transglutaminase cross-linking. J Biol Chem 1993: 268: 12028-12032.
113. Nara K, Ito S, Ito T et al. Elastase inhibitor elefin is a new type of proteinase inhibitor which has a transglutaminase-mediated anchoring sequence termed "cementoin". J Biochem 1994: 115: 441-448.
114. Schalkwijk J, van Vlijmen I M J J, Alkemade J A C, de Jongh G J. Immunohistochemical localization of SKALP/ elafin in psoriatic epidermis. J Invest Dermatol 1993: 100: 390-393.
115. Nonomura K, Yamanishi K, Yasuno H, Nara K, Hirose S. Up-regulation of elafin/SKALP gene expression in psoriatic epidermis. J Invest Dermatol 1994: 103: 88-91.
116. Alkemade J A C, Molhuizen H O F, Ponec M et al. SKALP/elafin is an inducible proteinase inhibitor in human epidermal keratinocytes. J Cell Sci 1994: 107: 2335-2342.
117. Sallenave J-M, Shulmann J, Crossley J, Jordana M, Gauldie J. Regulation of secretory leukocyte proteinase inhibitor (SLPI) and elastase-specific inhibitor (ESI/elafin) in human airway epithelial cells by cytokines and neutrophilic enzymes. Am J Respir Cell Moll Biol 1994: 11: 733-741.
118. Molhuizen H O F, Zeeuwen P L J M, Olde Weghuis D, Geurts van Kessel A, Schalkwijk J. Assignment of the human gene encoding the epidermal serine proteinase inhibitor SKALP (PI3) to chromosome region 20q12→q13. Cytogenet Cell Genet 1994: 66: 129-131.
119. Engelkamp D, Schäfer B W, Mattei M G, Erne P, Heizmann C W. Six S100 genes are clustered on human chromosome 1q21: identification of two gene coding for the two previously unreported calcium-binding proteins S100D and S100E. Proc Natl Acad Sci 1993: 90: 6547-6551.
120. Moog-Lutz C, Bouillet P, Regnier C H et al. Comparative expression of the psoriasin (S100A7) and S100C genes in breast carcinoma and co-localization to human chromosome Iq21-q22. Im J Cancer 1995: 63: 297-303.
121. Presland R B, Haydock P V, Fleckman P, Nirunsuksiri W, Dale B A. Characterization of the human epidermal profilaggrin gene. Genomic organization and identification of an S-100-like calcium binding domain at the amino terminus. J Biol Chem 1992: 267: 23772-23781.
122. Simon M, Haftek M, Sebbag M et al. Evidence that filaggrin is a component of cornified cell envelopes in human plantar epidermis. Biochem J 1996: 317: 173-177.
123. Richards S, Scott I R, Harding C R, Liddell J E, Powell G M, Curtis C G. Evidence for filaggrin as a component of the cell envelope of the newborn rat. Biochem J 1988: 253: 153-160.
124. Presland R B, Kimball J R, Kautsky M B, Lewis S P, Lo C Y, Dale B A. Evidence for specific proteolytic cleavage of the N-terminal domain of human profilaggrin during epidermal differentiation. J Invest Dermatol 1997: 108: 170-178.
125. Moore K G, Sartorelli A C. Annexin I and involucrin are cross-linked by particulate transglutaminase into the cornified cell envelope of squamous cell carcinoma Y1. Exp Cell Res 1992: 200: 186-195.
126. Jensen P J, Wu Q, Janowitz P, Ando Y, Schechter N M. Plasminogen activator inhibitor type 2: An intracellular keratinocyte differentiation product that is incorporated into the cornified envelope. Exp Cell Res 1995: 217: 65-71.
127. Kvedar J C, Manabe M, Philips S B, Ross B S, Baden H P. Characterization of sciellin, a precursor to the cornified envelope of human keratinocytes. Differentiation 1992: 49: 195-204.
128. Ruhrberg C, Hajibagheri M A N, Simon M, Dooley T P, Watt F M. Envoplakin, a novel precursor of the cornified envelope that has homology to desmoplakin. J Cell Biol 1996: 134: 715-729.
129. Schnyder U W. Inherited ichthyoses. Arch Dermatol 1970: 102: 240-252.
130. Ishida-Yamamoto A, Eady R A J, Underwood R A, Dale B A, Holbrook K A. Filaggrin expression in epidermolytic ichthyosis (epidermolytic hyperkeratosis). Br J Dermatol 1994: 131: 767-779.
131. Niemi K-M, Kanerva L, Kuokkanen K. Recessive ichthyosis congenita type II. Arch Dermatol Res 1991: 283: 211-218.
132. Russell L J, DiGiovanna J J, Hashem N, Compton J G, Bale S J. Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q. Am J Hum Genet 1994: 55: 1146-1152.
133. Parmentier L, Blanchet-Bardon C, Nguyen S, Prud'homme J-F, Dubertret L, Weissenbach J. Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity. Hum Mol Genet 1995: 4: 1391-1395.
134. Huber M, Rettler I, Bernasconi K, Wyss M, Hohl D. Lamellar ichthyosis is genetically heterogeneous - Cases with normal keratinocyte transglutaminase. J Invest Dermatol 1995: 105: 653-654.
135. Vohwinkel H. Keratoma hereditaria mutilans. Arch Dermatol Syphilol 1929: 158: 354-364.
136. Gibbs R C, Frank S B. Keratoma hereditaria mutilans (Vohwinkel). Arch Dermatol 1966: 94: 619-625.
137. Korge B P, Ishida-Yamamoto A, Pünter C et al. Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis. J Invest Dermatol 1997: in press.
138. Lam H, McGrath J A, Griffiths W A D et al. Genetic heterogeneity in mutilating palmoplantar keratodermas with pseudoainhum. J Invest Dermatol 1997: 108: 647.
139. de Viragh P A, Scharer L, Bundman D, Roop D R. Loricrin deficient mice: upregulation of other cell envelope precursors rescues the neonatal defect but fails to restore epidermal barrier function. J Invest Dermatol 1997: 108: 555.