Note to users. If you're seeing this message, it means that your browser cannot find this page's style/presentation instructions -- or possibly that you are using a browser that does not support current Web standards. Find out more about why this message is appearing, and what you can do to make your experience of our site the best it can be.

Science 27 January 1995:
Vol. 267. no. 5197, pp. 525 - 528
DOI: 10.1126/science.7824952
Prev | Table of Contents | Next

Articles

Science, Vol 267, Issue 5197, 525-528
Copyright © 1995 by American Association for the Advancement of Science

articles

Mutations of keratinocyte transglutaminase in lamellar ichthyosis

M Huber, I Rettler, K Bernasconi, E Frenk, SP Lavrijsen, M Ponec, A Bon, S Lautenschlager, DF Schorderet, and D Hohl

Department of Dermatology, Centre Hospitalier Universitaire Vandois (CHUV), Hopital de Beaumont, Lausanne, Switzerland.

Lamellar ichthyosis is a severe congenital skin disorder characterized by generalized large scales and variable redness. Affected individuals in three families exhibited drastically reduced keratinocyte transglutaminase (TGK) activity. In two of these families, expression of TGK transcripts was diminished or abnormal and no TGK protein was detected. Homozygous or compound heterozygous mutations of the TGK gene were identified in all families. These data suggest that defects in TGK cause lamellar ichthyosis and that intact cross-linkage of cornified cell envelopes is required for epidermal tissue homeostasis.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Transglutaminases and Disease: Lessons From Genetically Engineered Mouse Models and Inherited Disorders.
S. E. Iismaa, B. M. Mearns, L. Lorand, and R. M. Graham (2009)
Physiol Rev 89, 991-1023
   Abstract »    Full Text »    PDF »
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.
S Farasat, M-H Wei, M Herman, D J Liewehr, S M Steinberg, S J Bale, P Fleckman, and J R Toro (2009)
J. Med. Genet. 46, 103-111
   Abstract »    Full Text »    PDF »
Thematic review series: Skin Lipids. Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism.
P. M. Elias, M. L. Williams, W. M. Holleran, Y. J. Jiang, and M. Schmuth (2008)
J. Lipid Res. 49, 697-714
   Abstract »    Full Text »    PDF »
Self-Healing Collodion Membrane and Mild Nonbullous Congenital Ichthyosiform Erythroderma Due to 2 Novel Mutations in the ALOX12B Gene.
M. Harting, N. Brunetti-Pierri, C. S. Chan, J. Kirby, M. K. Dishop, G. Richard, F. Scaglia, A. C. Yan, and M. L. Levy (2008)
Arch Dermatol 144, 351-356
   Abstract »    Full Text »    PDF »
Mice deficient in involucrin, envoplakin, and periplakin have a defective epidermal barrier.
L. M. Sevilla, R. Nachat, K. R. Groot, J. F. Klement, J. Uitto, P. Djian, A. Maatta, and F. M. Watt (2007)
J. Cell Biol. 179, 1599-1612
   Abstract »    Full Text »    PDF »
Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.
J Dahlqvist, J Klar, I Hausser, I Anton-Lamprecht, M H. Pigg, T Gedde-Dahl Jr, A Ganemo, A Vahlquist, and N Dahl (2007)
J. Med. Genet. 44, 615-620
   Abstract »    Full Text »    PDF »
Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype.
V. Oji, J. M. Hautier, B. Ahvazi, I. Hausser, K. Aufenvenne, T. Walker, N. Seller, P. M. Steijlen, W. Kuster, A. Hovnanian, et al. (2006)
Hum. Mol. Genet. 15, 3083-3097
   Abstract »    Full Text »    PDF »
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.
C. Lefevre, B. Bouadjar, V. Ferrand, G. Tadini, A. Megarbane, M. Lathrop, J.-F. Prud'homme, and J. Fischer (2006)
Hum. Mol. Genet. 15, 767-776
   Abstract »    Full Text »    PDF »
Identification of Human Hornerin and Its Expression in Regenerating and Psoriatic Skin.
M. Takaishi, T. Makino, M. Morohashi, and N.-h. Huh (2005)
J. Biol. Chem. 280, 4696-4703
   Abstract »    Full Text »    PDF »
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.
C. Lefevre, B. Bouadjar, A. Karaduman, F. Jobard, S. Saker, M. Ozguc, M. Lathrop, J.-F. Prud'homme, and J. Fischer (2004)
Hum. Mol. Genet. 13, 2473-2482
   Abstract »    Full Text »    PDF »
Evidence that unrestricted legumain activity is involved in disturbed epidermal cornification in cystatin M/E deficient mice.
P. L.J.M. Zeeuwen, I. M.J.J. van Vlijmen-Willems, D. Olthuis, H. T. Johansen, K. Hitomi, I. Hara-Nishimura, J. C. Powers, K. E. James, H. J. op den Camp, R. Lemmens, et al. (2004)
Hum. Mol. Genet. 13, 1069-1079
   Abstract »    Full Text »    PDF »
Cathepsin D is involved in the regulation of transglutaminase 1 and epidermal differentiation.
F. Egberts, M. Heinrich, J.-M. Jensen, S. Winoto-Morbach, S. Pfeiffer, M. Wickel, M. Schunck, J. Steude, P. Saftig, E. Proksch, et al. (2004)
J. Cell Sci. 117, 2295-2307
   Abstract »    Full Text »    PDF »
Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13.
J Klar, T Gedde-Dahl Jr, M Larsson, M Pigg, B Carlsson, D Tentler, A Vahlquist, and N Dahl (2004)
J. Med. Genet. 41, 208-212
   Full Text »    PDF »
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2.
C. Lefevre, S. Audebert, F. Jobard, B. Bouadjar, H. Lakhdar, O. Boughdene-Stambouli, C. Blanchet-Bardon, R. Heilig, M. Foglio, J. Weissenbach, et al. (2003)
Hum. Mol. Genet. 12, 2369-2378
   Abstract »    Full Text »    PDF »
Epoxyeicosatrienoic Acids Activate Transglutaminases in Situ and Induce Cornification of Epidermal Keratinocytes.
P. A. Ladd, L. Du, J. H. Capdevila, R. Mernaugh, and D. S. Keeney (2003)
J. Biol. Chem. 278, 35184-35192
   Abstract »    Full Text »    PDF »
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.
F. Jobard, C. Lefevre, A. Karaduman, C. Blanchet-Bardon, S. Emre, J. Weissenbach, M. Ozguc, M. Lathrop, J.-F. Prud'homme, and J. Fischer (2002)
Hum. Mol. Genet. 11, 107-113
   Abstract »    Full Text »    PDF »
Gene Targeting of Envoplakin, a Cytoskeletal Linker Protein and Precursor of the Epidermal Cornified Envelope.
A. Maatta, T. DiColandrea, K. Groot, and F. M. Watt (2001)
Mol. Cell. Biol. 21, 7047-7053
   Abstract »    Full Text »    PDF »
Gene Disruption of Tissue Transglutaminase.
V. De Laurenzi and G. Melino (2001)
Mol. Cell. Biol. 21, 148-155
   Abstract »    Full Text »
Facilitated Wound Healing by Activation of the Transglutaminase 1 Gene.
R. Inada, M. Matsuki, K. Yamada, Y. Morishima, S.-C. Shen, N. Kuramoto, H. Yasuno, K. Takahashi, Y. Miyachi, and K. Yamanishi (2000)
Am. J. Pathol. 157, 1875-1882
   Abstract »    Full Text »    PDF »
Transient Expression of Transglutaminase C During Prenatal Development of Human Muscles.
S. K. Lee, J. G. Chi, S. C. Park, and S. I. Chung (2000)
J. Histochem. Cytochem. 48, 1565-1574
   Abstract »    Full Text »
Lessons from Loricrin-Deficient Mice: Compensatory Mechanisms Maintaining Skin Barrier Function in the Absence of a Major Cornified Envelope Protein.
P. J. Koch, P. A. de Viragh, E. Scharer, D. Bundman, M. A. Longley, J. Bickenbach, Y. Kawachi, Y. Suga, Z. Zhou, M. Huber, et al. (2000)
J. Cell Biol. 151, 389-400
   Abstract »    Full Text »    PDF »
Targeted Ablation of the Murine Involucrin Gene.
P. Djian, K. Easley, and H. Green (2000)
J. Cell Biol. 151, 381-388
   Abstract »    Full Text »    PDF »
Cholesterol 3-Sulfate Interferes with Cornified Envelope Assembly by Diverting Transglutaminase 1 Activity from the Formation of Cross-links and Esters to the Hydrolysis of Glutamine.
Z. Nemes, M. Demeny, L. N. Marekov, L. Fesus, and P. M. Steinert (2000)
J. Biol. Chem. 275, 2636-2646
   Abstract »    Full Text »    PDF »
Epithelial Structural Proteins of the Skin and Oral Cavity: Function in Health and Disease.
R. B. Presland and B. A. Dale (2000)
Critical Reviews in Oral Biology & Medicine 11, 383-408
   Abstract »    Full Text »    PDF »
Transglutaminase Type 1 and Its Cross-linking Activity Are Concentrated at Adherens Junctions in Simple Epithelial Cells.
T. Hiiragi, H. Sasaki, A. Nagafuchi, H. Sabe, S. C. Shen, M. Matsuki, K. Yamanishi, and S. Tsukita (1999)
J. Biol. Chem. 274, 34148-34154
   Abstract »    Full Text »    PDF »
Transglutaminase Activity in the Eye: Cross-linking in Epithelia and Connective Tissue Structures.
M. Raghunath, R. Cankay, U. Kubitscheck, J. D. Fauteck, R. Mayne, D. Aeschlimann, and U. Schlotzer-Schrehardt (1999)
Invest. Ophthalmol. Vis. Sci. 40, 2780-2787
   Abstract »    Full Text »    PDF »
A novel function for transglutaminase 1: Attachment of long-chain omega -hydroxyceramides to involucrin by ester bond formation.
Z. Nemes, L. N. Marekov, L. Fesus, and P. M. Steinert (1999)
PNAS 96, 8402-8407
   Abstract »    Full Text »    PDF »
Involucrin Cross-linking by Transglutaminase 1. BINDING TO MEMBRANES DIRECTS RESIDUE SPECIFICITY.
Z. Nemes, L. N. Marekov, and P. M. Steinert (1999)
J. Biol. Chem. 274, 11013-11021
   Abstract »    Full Text »    PDF »
CCAAT/Enhancer-binding Proteins. A ROLE IN REGULATION OF HUMAN INVOLUCRIN PROMOTER RESPONSE TO PHORBOL ESTER.
C. Agarwal, T. Efimova, J. F. Welter, J. F. Crish, and R. L. Eckert (1999)
J. Biol. Chem. 274, 6190-6194
   Abstract »    Full Text »    PDF »
cDNA Cloning and Characterization of Sciellin, a LIM Domain Protein of the Keratinocyte Cornified Envelope.
M.-F. Champliaud, R. E. Burgeson, W. Jin, H. P. Baden, and P. F. Olson (1998)
J. Biol. Chem. 273, 31547-31554
   Abstract »    Full Text »    PDF »
Transglutaminase 1 Mutations in Lamellar Ichthyosis. LOSS OF ACTIVITY DUE TO FAILURE OF ACTIVATION BY PROTEOLYTIC PROCESSING.
E. Candi, G. Melino, A. Lahm, R. Ceci, A. Rossi, I. G. Kim, B. Ciani, and P. M. Steinert (1998)
J. Biol. Chem. 273, 13693-13702
   Abstract »    Full Text »    PDF »
Isolation of a cDNA Encoding a Novel Member of the Transglutaminase Gene Family from Human Keratinocytes. DETECTION AND IDENTIFICATION OF TRANSGLUTAMINASE GENE PRODUCTS BASED ON REVERSE TRANSCRIPTION-POLYMERASE CHAIN REACTION WITH DEGENERATE PRIMERS.
D. Aeschlimann, M. K. Koeller, B. L. Allen-Hoffmann, and D. F. Mosher (1998)
J. Biol. Chem. 273, 3452-3460
   Abstract »    Full Text »    PDF »
Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase).
M. Matsuki, F. Yamashita, A. Ishida-Yamamoto, K. Yamada, C. Kinoshita, S. Fushiki, E. Ueda, Y. Morishima, K. Tabata, H. Yasuno, et al. (1998)
PNAS 95, 1044-1049
   Abstract »    Full Text »    PDF »
Inability of keratinocytes lacking their specific transglutaminase to form cross-linked envelopes: Absence of envelopes as a simple diagnostic test for lamellar ichthyosis.
S. Jeon, P. Djian, and H. Green (1998)
PNAS 95, 687-690
   Abstract »    Full Text »    PDF »
Patterned acquisition of skin barrier function during development.
M. Hardman, P Sisi, D. Banbury, and C Byrne (1998)
Development 125, 1541-1552
   Abstract »    PDF »
Periplakin, a Novel Component of Cornified Envelopes and Desmosomes That Belongs to the Plakin Family and Forms Complexes with Envoplakin.
C. Ruhrberg, M.A. N. Hajibagheri, D. A.D. Parry, and F. M. Watt (1997)
J. Cell Biol. 139, 1835-1849
   Abstract »    Full Text »    PDF »
Consequences of Seven Novel Mutations on the Expression and Structure of Keratinocyte Transglutaminase.
M. Huber, V. C. Yee, N. Burri, E. Vikerfors, A. P. M. Lavrijsen, A. S. Paller, and D. Hohl (1997)
J. Biol. Chem. 272, 21018-21026
   Abstract »    Full Text »    PDF »
Identification and Sequence Analysis of Two New Members of the SKALP/elafin and SPAI-2 Gene Family. BIOCHEMICAL PROPERTIES OF THE TRANSGLUTAMINASE SUBSTRATE MOTIF AND SUGGESTIONS FOR A NEW NOMENCLATURE.
P. L. J. M. Zeeuwen, W. Hendriks, W. W. de Jong, and J. Schalkwijk (1997)
J. Biol. Chem. 272, 20471-20478
   Abstract »    Full Text »    PDF »
A New Biological Glue for Cartilage-Cartilage Interfaces: Tissue Transglutaminase.
K. JÜRGENSEN, D. AESCHLIMANN, V. CAVIN, M. GENGE, and E. B. HUNZIKER (1997)
J. Bone Joint Surg. Am. 79, 185-93
   Abstract »    Full Text »
The [IMAGE] Isoform of Protein Kinase C Mediates Transcriptional Activation of the Human Transglutaminase 1 Gene.
E. Ueda, S. Ohno, T. Kuroki, E. Livneh, K. Yamada, K. Yamanishi, and H. Yasuno (1996)
J. Biol. Chem. 271, 9790-9794
   Abstract »    Full Text »    PDF »
Genetic Mutations Responsible for Lamellar Ichthyosis.
(1995)
Journal Watch Dermatology 1995, 9
   Full Text »


To Advertise     Find Products

Science. ISSN 0036-8075 (print), 1095-9203 (online)