Lack of plakoglobin in epidermis leads to keratoderma

Journal of Biological Chemistry

Volumn 287, Issue 13, 2012, Pages 10435-10443

  Li, Deqiang ^a   Zhang, Wenjun ^a   Liu, Ying ^a   Haneline, Laura S ^a   Shou, Weinian ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADHERENS JUNCTIONS; CARDIOMYOCYTES; CELL APOPTOSIS; CELL-CELL JUNCTIONS; CLINICAL FEATURES; GENETIC ABLATION; KERATINOCYTES; MUTANT MICE; PLAKOGLOBIN; SIGNALING ACTIVITY; ULTRASTRUCTURAL ANALYSIS;

CELL DEATH; CELL MEMBRANES;

MAMMALS;

BETA CATENIN; PLAKOGLOBIN; WNT PROTEIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; APOPTOSIS; ARTICLE; CELL PROLIFERATION; CELL ULTRASTRUCTURE; CONTROLLED STUDY; DESMOSOME; MOLECULAR PATHOLOGY; MOUSE; MOUSE MUTANT; NONHUMAN; PALMOPLANTAR KERATODERMA; PRIORITY JOURNAL; PROTEIN FUNCTION; SIGNAL TRANSDUCTION; SKIN INFLAMMATION; SKIN ULCER;

ADHERENS JUNCTIONS; ANIMALS; APOPTOSIS; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; CELL PROLIFERATION; DESMOPLAKINS; DESMOSOMES; EPIDERMIS; GAMMA CATENIN; HAIR DISEASES; HUMANS; KERATODERMA, PALMOPLANTAR; MICE; MICE, TRANSGENIC;

MUS;

EID: 84858951977     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M111.299669     Document Type: Article

References (28)

1. Jamora, C., and Fuchs, E. (2002) Intercellular adhesion, signaling, and the cytoskeleton. Nat. Cell Biol. 4, E101-E108
2. Zhurinsky, J., Shtutman, M., and Ben-Ze'ev, A. (2000) Plakoglobin and β-catenin: protein interactions, regulation, and biological roles. J. Cell Sci. 113, 3127-3139
3. McKoy, G., Protonotarios, N., Crosby, A., Tsatsopoulou, A., Anastasakis, A., Coonar, A., Norman, M., Baboonian, C., Jeffery, S., and McKenna, W. J. (2000) Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 355, 2119-2124 (Pubitemid 30364661)
4. Van Steensel, M. A. (2010) Recessive palmoplantar keratodermas: a tale of wings, hands, hair. and cancer. G. Ital. Dermatol. Venereol. 145, 763-770
5. Bierkamp, C., Mclaughlin, K. J., Schwarz, H., Huber, O., and Kemler, R. (1996) Embryonic heart and skin defects in mice lacking plakoglobin. Dev. Biol. 180, 780-785 (Pubitemid 27037381)
6. Li, D., Liu, Y., Maruyama, M., Zhu, W., Chen, H., Zhang, W., Reuter, S., Lin, S. F., Haneline, L. S., Field, L. J., Chen, P. S., and Shou, W. (2011) Restrictive loss of plakoglobin in cardiomyocytes leads to arrhythmogenic cardiomyopathy. Hum. Mol. Genet. 20, 4582-4596
7. Jonkers, J., Meuwissen, R., van der Gulden, H., Peterse, H., van der Valk, M., and Berns, A. (2001) Synergistic tumor suppressor activity of BRCA2 and p53 in a conditional mouse model for breast cancer. Nat. Genet. 29, 418-425 (Pubitemid 34326692)
8. DasGupta, R., and Fuchs, E. (1999) Multiple roles for activated LEF/TCF transcription complexes during hair follicle development and differentiation. Development 126, 4557-4568
9. Li, D., Hallett, M. A., Zhu, W., Rubart, M., Liu, Y., Yang, Z., Chen, H., Haneline, L. S., Chan, R. J., Schwartz, R. J., Field, L. J., Atkinson, S. J., and Shou, W. (2011) Dishevelled-associated activator of morphogenesis 1 (Daam1) is required for heart morphogenesis. Development 138, 303-315
10. Acehan, D., Petzold, C., Gumper, I., Sabatini, D. D., Müller, E. J., Cowin, P., and Stokes, D. L. (2008) Plakoglobin is required for effective intermediate filament anchorage to desmosomes. J. Invest. Dermatol. 128, 2665-2675
11. Fukunaga, Y., Liu, H., Shimizu, M., Komiya, S., Kawasuji, M., and Nagafuchi, A. (2005) Defining the roles of β-catenin and plakoglobin in cell-cell adhesion: isolation of β-catenin/plakoglobin-deficient F9 cells. Cell Struct. Funct. 30, 25-34 (Pubitemid 41803298)
12. Pummi, K., Malminen, M., Aho, H., Karvonen, S. L., Peltonen, J., and Peltonen, S. (2001) Epidermal tight junctions: ZO-1 and occludin are expressed in mature, developing, and affected skin and in vitro differentiating keratinocytes. J. Invest. Dermatol. 117, 1050-1058 (Pubitemid 34205897)
13. Malminen, M., Koivukangas, V., Peltonen, J., Karvonen, S. L., Oikarinen, A., and Peltonen, S. (2003) Immunohistological distribution of the tight junction components ZO-1 and occludin in regenerating human epidermis. Br. J. Dermatol. 149, 255-260 (Pubitemid 37100249)
14. Tsuruta, D., Hashimoto, T., Hamill, K. J., and Jones, J. C. (2011) Hemidesmosomes and focal contact proteins: functions and cross-talk in keratinocytes, bullous diseases, and wound healing. J. Dermatol. Sci. 62, 1-7
15. Klymkowsky, M. W., Williams, B. O., Barish, G. D., Varmus, H. E., and Vourgourakis, Y. E. (1999) Membrane-anchored plakoglobins have multiple mechanisms of action in Wnt signaling. Mol. Biol. Cell 10, 3151-3169 (Pubitemid 29489552)
16. Shimizu, M., Fukunaga, Y., Ikenouchi, J., and Nagafuchi, A. (2008) Defining the roles of β-catenin and plakoglobin in LEF/T-cell factor-dependent transcription using β-catenin/plakoglobin-null F9 cells. Mol. Cell. Biol. 28, 825-835
17. Garcia-Gras, E., Lombardi, R., Giocondo, M. J., Willerson, J. T., Schneider, M. D., Khoury, D. S., and Marian, A. J. (2006) Suppression of canonical Wnt/β-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy. J. Clin. Invest. 116, 2012-2021 (Pubitemid 44033325)
18. Clevers, H. (2006) Wnt/β-catenin signaling in development and disease. Cell 127, 469-480
19. Yost, C., Torres, M., Miller, J. R., Huang, E., Kimelman, D., and Moon, R. T. (1996) The axis-inducing activity, stability, and subcellular distribution of β-catenin are regulated in Xenopus embryos by glycogen synthase kinase 3. Genes Dev. 10, 1443-1454 (Pubitemid 26260702)
20. Haq, S., Michael, A., Andreucci, M., Bhattacharya, K., Dotto, P., Walters, B., Woodgett, J., Kilter, H., and Force, T. (2003) Stabilization of β-catenin by a Wnt-independent mechanism regulates cardiomyocyte growth. Proc. Natl. Acad. Sci. U.S.A. 100, 4610-4615 (Pubitemid 36457778)
21. MacDonald, B. T., Tamai, K., and He, X. (2009) Wnt/β-catenin signaling: components, mechanisms, and diseases. Dev. Cell 17, 9-26
22. Itin, P. H., and Fistarol, S. K. (2005) Palmoplantar keratodermas. Clin. Dermatol. 23, 15-22 (Pubitemid 40222771)
23. Cabral, R. M., Liu, L., Hogan, C., Dopping-Hepenstal, P. J., Winik, B. C., Asial, R. A., Dobson, R., Mein, C. A., Baselaga, P. A., Mellerio, J. E., Nanda, A., Boente Mdel, C., Kelsell, D. P., McGrath, J. A., and South, A. P. (2010) Homozygous mutations in the 5′ region of the JUP gene result in cutaneous disease but normal heart development in children. J. Invest. Dermat. 130, 1543-1550
24. Pigors, M., Kiritsi, D., Krümpelmann, S., Wagner, N., He, Y., Podda, M., Kohlhase, J., Hausser, I., Bruckner-Tuderman, L., and Has, C. (2011) Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity. Hum. Mol. Genet. 20, 1811-1819
25. Erken, H., Yariz, K. O., Duman, D., Kaya, C. T., Sayin, T., Heper, A. O., and Tekin, M. (2011) Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation. Br. J. Dermatol. 165, 917-921
26. Gamborg Nielsen, P. (1984) Psoriasis and hereditary palmoplantar keratoderma complicated with a dermatophyte infection. Case report. Dermatologica 168, 293-295
27. Bierkamp, C., Schwarz, H., Huber, O., and Kemler, R. (1999) Desmosomal localization of β-catenin in the skin of plakoglobin-null mutant mice. Development 126, 371-381 (Pubitemid 29083974)
28. Li, D., Liu, Y., Maruyama, M., Zhu, W., Chen, H., Zhang, W., Reuter, S., Lin, S. F., Haneline, L. S., Field, L. J., Chen, P. S., and Shou, W. (2011) Restrictive loss of plakoglobin in cardiomyocytes leads to arrhythmogenic cardiomyopathy. Hum. Mol. Genet. 20, 4582-4596