Abnormal transglutaminase 1 expression pattern in a subset of patients with erythrodermic autosomal recessive ichthyosis

Journal of Investigative Dermatology

Volumn 110, Issue 1, 1998, Pages 8-12

  Choate, Keith A ^c   Williams, Mary L ^a   Khavari, Paul A ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b VA PALO ALTO HEALTH CARE SYSTEM   (United States)

^c NONE

Author keywords

Differentiation; Gene expression; Skin

Indexed keywords

PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL DIFFERENTIATION; CELL REGENERATION; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; ENZYME ACTIVITY; GENE EXPRESSION REGULATION; GENETIC HETEROGENEITY; HUMAN; HUMAN TISSUE; KERATINOCYTE; PRIORITY JOURNAL; RASH; TUMOR LOCALIZATION;

EID: 0031933335     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1998.00070.x     Document Type: Chapter

References (36)

1. Cheng J, Syder AJ, Yu QC, Letai A, Paller AS, Fuchis E: The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes. Cell 70 (5):811-819, 1992
2. Choate KA, Kinsella TM, Williams ML, Nolan GP, Khavari PA: Transglutaminase 1 delivery to lamellar ichthyosis keratinocytes. Hum Gene Ther 7:2247-2253, 1996a
3. Choate KA, Medalie DA, Morgan JR, Khavari PA: Corrective gene transfer in the human skin disorder lamellar ichthyosis. Nat Med 2 (11):1263-1267, 1996b
4. Dalemans W, Barbry P, Champigny G, et al: Altered chloride ion channel kinetics associated with the delta F508 cystic fibrosis mutation. Nature 354 (6354):526-528, 1991
5. Denning GM, Anderson MP, Amara JF, Marshall J, Smith AE, Welsh MJ: Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. Nature 358 (6389):761-764, 1992
6. Ghadially R, Williams ML, Hou SY, Elias PM: Membrane structural abnormalities in the stratum corneum of the autosomal recessive ichthyoses. J Invest Dermatol 99 (6):755-763, 1992
7. Gibson DF, Ratnam AV, Bikle DD: Evidence for separate control mechanisms at the message, protein, and enzyme activation levels for transglutaminase during calcium-induced differentiation of normal and transformed human keratinocytes. J Invest Dermatol 106, (1):154-161, 1996
8. Gottlieb SL, Gilleaudeau P, Johnson R, Estes L, Woodworth TG, Gottlieb AB, Krueger JG: Response of psoriasis to a lymphocyte-selective toxin (DAB389IL-2) suggests a primary immune, but not keratinocyte, pathogenic basis. Nat Med 1 (5):442-447, 1995
9. Greenberg CS, Birckbichler PJ, Rice RH: Transglutaminases: multifunctional cross-linking enzymes that stabilize tissues. Faseb J 5 (15):3071-3077, 1991
10. Hazell M, Marks R: Clinical, histologic, and cell kinetic discriminants between lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma. Arch Dermatol 121 (4):489-493, 1985
11. Hohl D, Huber M, Frenk E: Analysis of the cornified cell envelope in lamellar ichthyosis. Arch Dermatol 129 (5):618-624, 1993
12. Hohl D, de Viragh PA, 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 104 (6):902-909, 1995
13. Huber M, Rettler I, Bernasconi K, et al: Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 267 (5197):525-528, 1995a
14. Huber M, Rettler I, Bernasconi K, Wyss M, Hohl D: Lamellar ichthyosis is genetically heterogeneous - cases with normal keratinocyte transglutaminase. J Invest Dermatol 105 (5):653-654, 1995b
15. Khavari PA, Peterson CL, Tamkun JW, Mendel DB, Crabtree GR: BRG1 contains a conserved domain of the SW12/SNF2 family necessary for normal mitotic growth and transcription. Nature 366 (6451): 170-174, 1993
16. Kim SY, Chung SI, Steinert PM: Highly active soluble processed forms of the transglutaminase 1 enzyme in epidermal keratinocytes. J Biol Chem 270 (30): 18026-18035, 1995a
17. Kim SY, Chung SI, Yoneda K, Steinert PM: Epression of transglutaminase 1 in human epidermis. J Invest Dermatol 104 (2):211-217, 1995b
18. Kwon H, Imbalzano AN, Khavari PA, Kingston RE, Green MR: Nucleosome disruption and enhancement of activator binding by a human SW1/SNF complex. Nature 370 (6489):477-481, 1994
19. Lavrijsen AP, Oestmann E, Hermans J, Bodde HE, Verineer BJ, Ponec M: Barrier function parameters in various keratinization disorders: transepidermal water loss and vascular response to hexyl nicotinate. Br J Dermatol 129 (5):547-553, 1993
20. Medalie DA, Eming SA, Tompkins RG, Yarmush ML, Krueger GG, Morgan JR: Evaluation of human skin reconstituted from composite grafts of cultured keratinocytes and human acellular dermis transplanted to athymic mice. J Invest Dermatol 107 (1):121-127, 1996
21. Menon GK, Ghadially R, Williams ML, Elias PM: Lamellar bodies as delivery systems of hydrolytic enzymes: implications for normal and abnormal desquamation. Br J Dermatol 126 (4):337-345, 1992
22. Parmentier L, Blanchet-Bardon C, Nguyen S, Prud'homme JF, Dubertret L, Weissenbach J: Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity. Hum Mol Genet 4 (8):1391-1395, 1995
23. Phillips MA, Qin Q, Mehrpouyan M, Rice RH: Keratinocyte transglutaminase membrane anchorage: analysis of site-directed mutants. Biochemistry 32 (41):11057-11063, 1993
24. Rheinwald JG, Green H: Serial cultivation of strains of human epidermal keratinocytes: the formation of keratinizing colonies from single cells. Cell 6 (3):331-343, 1975
25. Rice RH: In: Leigh IM, Watt FM (eds.). Keratinocyte Methods. Cambridge University Press, Cambridge and New York, 1994, pp 157-165
26. Rice RH, Mehrpouyan M, O'Callahan W, Parenteau NL, Rubin AL: Keratinocyte transglutaminase: differentiation marker and member of an extended family. Epithelial Cell Biol 1 (3):128-137, 1992
27. Roop D: Defects in the barrier [comment]. Science 267 (5197):474-475, 1995
28. Rothnagel JA, Dominey AM, Dempsey LD, et al: Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science 257 (5073):1128-1130, 1992
29. Russell LJ, DiGiovanna JJ, Hashem N, Compton JG, Bale SJ: Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q. Am J Hum Genet 55 (6):1146-1152, 1994
30. Russell LJ, DiGiovanna JJ, Rogers GR, Steinert PM, Hashem N, Compton JG, Bale SJ: Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet 9 (3):279-283, 1995
31. Steinert PM, Marekov LN: 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 (30):17702-17711, 1995
32. Steinert PM, Kim SY, Chung SI, Marekov LN: The transglutaminase 1 enzyme is variably acylated by myristate and palmitate during differentiation in epidermal keratinocytes. J Biol Chem 271 (42):26242-26250, 1996
33. Thacher SM, Rice RH, Greenberg CS, Birckbichler PJ, Rice RH: Keratinocyte-specific transglutaminase of cultured human epidermal cells: relation to cross-linked envelope formation and terminal differentiation. Transglutaminases: multifunctional cross-linking enzymes that stabilize tissues. Cell 40 (3):685-695, 1985
34. Ward CL, Omura S, Kopito RR: Degradation of CFTR by the ubiquitin-proteasome pathway. Cell 83 (1):121-127, 1995
35. Williams ML, Elias PM: Heterogeneity in autosomal recessive ichthyosis: clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma. Arch Dermatol 121:477-488, 1996
36. Williams ML, LeBoit PE: The ichthyoses: disorders of cornification. In: Arndt KA, LeBoit PE, Tobinson JK, Wintroub BU (eds.). Cutaneous Medicine and Surgery. W. B. Saunders, Philadelphia, 1996, pp 1681-1711