In vitro and rapid in situ transglutaminase assays for congenital ichthyoses - A comparative study

Journal of Investigative Dermatology

Volumn 110, Issue 3, 1998, Pages 268-271

  Hohl, Daniel ^a   Aeschlimann, Daniel ^b   Huber, Marcel ^a  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b UNIVERSITY OF WISCONSIN MADISON   (United States)

Author keywords

Keratinocyte; Lamellar ichthyosis; Transglutaminase

Indexed keywords

PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; KERATINOCYTE; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS;

EID: 0031893555     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1998.00132.x     Document Type: Article

References (32)

1. Aeschlimann D, Paulsson M: Transglutaminases. Thromb Haemostasis 71:402-415, 1994
2. Aeschlimann D, Wetterwald A, Fleisch H, Paulsson M: Expression of tissue transglutaminase in skeletal tissues correlates with events of terminal differentiation of chondrocytes. J Cell Biol 120:1461-1470, 1993
3. Anton-Lamprecht I: The skin. In: Papadimetriou JM, Henderson DW, Spaniolo DV (eds). Diagnostic Ultrastructure of Non-neoplastic Diseases. Churchill-Livingston, Edinburgh, 1992, pp, 459-550
4. Bale SJ, Compton JG, Russell LJ, Digiovanna JJ: Genetic heterogeneity in lamellar ichthyosis. J Invest Dermatol 107:140, 1996
5. Brocq L: Erythrodermie congenitale ichthyosiforme avec hyperepidermotrophie. Ann Dermatol Syph 4:1-31, 1902
6. Frost P, Van Scott E: Ichthyosiform dermatoses. Classification based on anatomic and biometric observations. Arch Dermatol 94:113-126, 1966
7. Greenberg C, Birckbichler P, Rice R: Transglutaminases: multifunctional cross-linking enzymes that stabilize tissues. Faseb J 5:3071-3077, 1991
8. Hohl D, Roop D: Loricrin. In: Darmon M, Blumenberg M (eds). Molcular Biology of the Skin. Academic Press, New York, 1993, pp 151-179
9. Hohl D, Huber M, Frenk E: Analysis of the cornified cell envelope in lamellar ichthyosis. Arch Dermatol 129:618-624, 1993
10. Huber M, Rettler I, Bernasconi K, et al: Mutations of keratinocyte transglutaminase in lamellar ichthyosis, Sci 267:525-528, 1995a
11. Huber M, Rettler I, Bernasconi K, Wyss M, Hohl D: Lamellar ichthyosis is genetically heterogeneous - cases with normal keratinocyte transglutaminase. J Invest Dermatol 105:653-654, 1995b
12. Huber M, Yee VC, Burri N, Vikerfors E, Lavrijsen APM, Paller AS, Hohl D: Consequences of seven novel mutations on the expression and structure of keratinocyte transglutaminase. J Biol Chem 272: 21018-21026, 1997
13. Kim I, McBride W, Wang M, Kim S, Idler W, Steinert PM: Structure and organization of the human transglutaminase 1 gene. J Biol Chem 267:7710-7717, 1992
14. Kim IG, Gorman JJ, Park SC, Chung SI, Steinert PM: The deduced sequence of the novel protransglutaminase-E (TGase3) of human and mouse. J Biol chem 268: 12682-12690, 1993
15. Kim I, Lee S, Lee J, Yang J, Chung S. Steinert P: Structure and organization of the human transglutaminase 3 gene: Evolutionary relationship to the transglutaminase family. J Invest Dermatol 103:137-142, 1994
16. Kim SY, Chung SI, Yoneda K, Steinert PM: Expression of transglutaminase 1 in human epidermis. J Invest Dermatol 104:211-217, 1995
17. Lichti U, Ben T, Yuspa SH: Retinoic acid-induced transglutaminase in mouse epidermal cells is distinct from epidermal transglutaminase. J Biol Chem 260:1422-1426, 1985
18. Park SC, Kim SY, Kim HC, Thacher S, Chung SI: Differential expression of transglutaminases in human foreskin and cultured keratinocytes (Abstract). J Cell Biol 107:139a, 1988
19. Parmentier L, Blanchet-Bardon C, Nguyen S, Prud'homme J-F, Dubertret I . Weissenbach J: Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity. Human Mol Gen 4:1391-1395, 1995
20. Parmentier L, Lakhdar H, Blanchet-Bardon C, Marchand S, Dubertret I., Weissenbach J: Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35. Human Mol Gen 5:555-559, 1996
21. Pedersen L, Yee V, Bishop P, LeTrong I, Teller D, Stenkamp R: Transglutaminase factor XIII uses proteinase-like catalytic triad to cross-link macromolecules Proc Sci 3:1131-1135, 1994
22. Phillips MA, Stewart BE, Rice RH: Genomic structure of keratinocyte transglutaminase. J Biol Chem 267:2282-2286, 1992
23. Polakowska R, Goldsmith L: 5, The cell envelope and transglutaminases. In: Goldsmith LA (ed.). Biochemistry, Physiology and Molecular Biology of the Skin. Oxford University Press, New York, Oxford, 1991, pp 168-201
24. Reichert U, Michel S, Schmidt S: The cornified envelope: a key structure of terminally differentiating keratinocytes. In: Darmon M, Blumenberg M (eds). Molecular Biology of the Skin. Academic Press, New York, 1993, pp, 107-150
25. Russell LJ, DiGiovanna JJ, Rogers GR, Steinert PM, Hashem N, Compton JG, Bale SK: Mutations in the gene for transglutaminase I in autosomal recessive lamellar ichthyosis, Nat Genet 9:279-283, 1995
26. Steinert PM, Marekov LN: The proteins elafin, filaggrin, keratin inetrmediate filaments. lorcrin, and small proline-rich proteins 1 and 2 are isodipeptide cross-linked components of the human epidermal cornified cell envelope. J Biol Chem 270:17702-17711, 1995
27. Steinert PM, Marekov LN: Direct evidence that involucrin is a major early isopeptide crosslinked component of the keratinocyte cormfied cell envelope. J Biol Chem 272:2021-2030, 1997
28. Thacher SM: Purification of keratinocyte transglutaminase and its expression during squamous differentiation. J Invest Dermatol 92:578-584, 1989
29. Thacher SM, Rice RH: Keratinocyte-specific transglutaminase of cultured human epidermal cells: relation to cross-linked envelope formation and terminal differentiation. Cell 40:685-695, 1985
30. Traupe H: The Ichthyoses. Springer, Berlin, 1989
31. Wertz PW, Madison KC, Downing DT: Covalently bound lipids of human stratum corneum. J Invest Dermatol 92:109-111, 1989
32. Williams M, Elias P: Elevated n-alkanes in congenital ichthyosiform erythroderma. Phenotypic differentiation of two types of autosomal recessive ichthyosis. J Clin Invest 74:296-300, 1984