Periplakin Gene Targeting Reveals a Constituent of the Cornified Cell Envelope Dispensable for Normal Mouse Development

REFERENCES

• Aho, S. 2004. Many faces of periplakin: domain-specific antibodies detect the protein throughout the epidermis, explaining the multiple protein-protein interactions. Cell Tissue Res. 316:87–97.
   PubMedGoogle Scholar
• Aho, S., Buisson M., Pajunen T., Ryoo Y. W., Giot J.-F., Gruffat H., Sergeant A., and Uitto J.. 2000. Ubinuclein, a novel nuclear protein interacting with cellular and viral transcription factors. J. Cell Biol. 148:1165–1176.
   PubMedGoogle Scholar
• Aho, S., and Kazerounian S.. 2003. Molecular interactions of periplakin in epithelial cells. Recent Res. Dev. Cell. Biochem. 1:131–141.
   Google Scholar
• Aho, S., McLean W. H. I., Li K., and Uitto J.. 1998. cDNA cloning, mRNA expression, and chromosomal mapping of human and mouse periplakin gene. Genomics 48:242–247.
   PubMedGoogle Scholar
• Aho, S., Rothenberger K., Tan E. M. L., Ryoo Y. W., Cho B. H., McLean W. H. I., and Uitto J.. 1999. Human periplakin: genomic organization in a clonally unstable region of chromosome 16p with an abundance of repetitive sequence elements. Genomics 56:160–168.
   PubMedGoogle Scholar
• Aho, S., and Uitto J.. 1997. Basement membrane zone protein-protein interactions disclosed by yeast two-hybrid system. J. Investig. Dermatol. 108:546.
   Google Scholar
• Allen, P. G., and Shah J. V.. 1999. Brains and brawn: plectin as regulator and reinforcer of the cytoskeleton. BioEssays 21:451–454.
   PubMedGoogle Scholar
• Andrä, K., Lassmann H., Bittner R., Shorny S., Fässler R., Propst F., and Wiche G.. 1997. Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture. Genes Dev. 11:3143–3156.
   PubMed Web of Science ®Google Scholar
• Anhalt, G. J. 1997. Paraneoplastic pemphigus. Adv. Dermatol. 12:77–96.
   PubMedGoogle Scholar
• Anhalt, G. J., Kim S., Stanley J. R., Korman N. J., Jabs D. A., Kory M., Izumi H., Ratrie H., Mutasim D., Ariss-Abdo L., and Labib R. S.. 1990. Paraneoplastic pemphigus. An autoimmune mucocutaneous disease associated with neoplasia. N. Engl. J. Med. 323:1729–1735.
   PubMed Web of Science ®Google Scholar
• Brown, A., Bernier G., Mathieu M., Rossant J., and Kothary R.. 1995. The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1. Nat. Genet. 10:301–306.
   PubMedGoogle Scholar
• DiColandrea, T., Karashima T., Määttä A., and Watt F. M.. 2000. Subcellular distribution of envoplakin and periplakin: insights into their role as precursors of the epidermal cornified envelope. J. Cell Biol. 151:573–585.
   PubMedGoogle Scholar
• Djian, P., Easley K., and Green H.. 2000. Targeted ablation of the murine involucrin gene. J. Cell Biol. 151:381–387.
   PubMedGoogle Scholar
• Doering, T., Holleran W., Potratz A., Vielhaber G., Elias P., Suzuki K., and Dandhoff K.. 1999. Sphingolipid activator proteins are required for epidermal permeability barrier formation. J. Biol. Chem. 274:11038–11045.
   PubMed Web of Science ®Google Scholar
• Feng, G. J., Kellett E., Scorer C. A., Wilde J., White J. H., and Milligan G.. 2003. Selective interactions between helix VIII of the human mu opioid receptors and the C-terminus of periplakin disrupt G protein activation. J. Biol. Chem. 278:33400–33407.
   PubMedGoogle Scholar
• Fuchs, E., and Yang Y.. 1999. Crossroads on cytoskeletal highways. Cell 98:547–550.
   PubMedGoogle Scholar
• Gallicano, G. I., Bauer C., and Fuchs E.. 2001. Rescuing desmoplakin function in extra-embryonic ectoderm reveals the importance of this protein in embryonic heart, neuroepithelium, skin and vasculature. Development 128:929–941.
   PubMed Web of Science ®Google Scholar
• Gallicano, G. I., Kouklis P., Bauer C., Yin M., Vasioukhin V., Degenstein L., and Fuchs E.. 1998. Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage. J. Cell Biol. 143:2009–2022.
   PubMedGoogle Scholar
• Guo, L., Degenstein L., Dowling J., Yu Q.-C., Wollman R., Perman B., and Fuchs E.. 1995. Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration. Cell 81:233–243.
   PubMed Web of Science ®Google Scholar
• Hardman, M., Sisi P., Banbury D., and Byrne C.. 1998. Patterned acquisition of skin barrier function during development. Development 125:1541–1552.
   PubMed Web of Science ®Google Scholar
• Huber, O. 2003. Structure and function of desmosomal proteins and their role in development and disease. Cell. Mol. Life Sci. 60:1872–1890.
   PubMedGoogle Scholar
• Jarnik, M., de Viragh P. A., Scharer E., Bundman D., Simon M. N., Roop D., and Steven A.. 2002. Quasi-normal cornified cell envelopes in loricrin knockout mice imply the existence of a loricrin backup system. J. Investig. Dermatol. 118:102–109.
   PubMedGoogle Scholar
• Kalinin, A. E., Kajava A. V., and Steinert P. M.. 2002. Epithelial barrier function: assembly and structural features of the cornified cell envelope. BioEssays 24:789–800.
   PubMed Web of Science ®Google Scholar
• Karashima, T., and Watt F. M.. 2002. Interaction of periplakin and envoplakin with intermediate filaments. J. Cell Sci. 115:5027–5037.
   PubMedGoogle Scholar
• Kazerounian, S., and Aho S.. 2003. Characterization of periphilin, a widespread, highly insoluble nuclear protein and potential constituent of the keratinocyte cornified envelope. J. Biol. Chem. 278:36707–36717.
   PubMedGoogle Scholar
• Kazerounian, S., Uitto J., and Aho S.. 2002. Unique role for the periplakin tail in intermediate filament association: specific binding to keratin 8 and vimentin. Exp. Dermatol. 11:428–438.
   PubMed Web of Science ®Google Scholar
• Kim, S.-Y., Jeitner T., and Steinert P.. 2002. Transglutaminases in disease. Neurochem. Int. 40:85–103.
   PubMedGoogle Scholar
• Koch, P., de Viragh P., Scharer E., Bundman D., Longley M., Bickenbach J., Kawachi Y., Suga Y., Zhou Z., Huber M., Hohl D., Kartasova T., Jarnik M., Steven A., and Roop D.. 2000. Lessons from loricrin-deficient mice: compensatory mechanisms maintaining skin barrier function in the absence of a major cornified envelope protein. J. Cell Biol. 151:389–400.
   PubMed Web of Science ®Google Scholar
• Köntgen, F., and Stewart C. L.. 1993. Simple screening procedure to detect gene targeting events in embryonic stem cells. Methods Enzymol. 225:878–889.
   PubMedGoogle Scholar
• Kuramoto, N., Takizawa T., Takizawa T., Matsuki M., Morioka H., Robinson J. M., and Yamanishi K.. 2002. Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1. J. Clin. Investig. 109:243–250.
   PubMedGoogle Scholar
• Leung, C. L., Green K. J., and Liem R. K. H.. 2002. Plakins: a family of versatile cytolinker proteins. Trends Cell Biol. 12:37–45.
   PubMed Web of Science ®Google Scholar
• Leung, C. L., Liem R. K. H., Parry D. A. D., and Green K. J.. 2001. The plakin family. J. Cell Sci. 114:3409–3410.
   PubMedGoogle Scholar
• Ma, A. S.-P., and Sun T.-T.. 1986. Differentiation-dependent changes in the solubility of a 195-kD protein in human epidermal keratinocytes. J. Cell Biol. 103:41–48.
   PubMedGoogle Scholar
• Määttä, A., DiColandrea T., Groot K., and Watt F. M.. 2001. Gene targeting of envoplakin, a cytoskeletal linker protein and precursor of the epidermal cornified envelope. Mol. Cell. Biol. 21:7047–7053.
   PubMed Web of Science ®Google Scholar
• Mahoney, M. G., Aho S., Uitto J., and Stanley J. R.. 1998. The members of the plakin family of proteins recognized by paraneoplastic pemphigus antibodies include periplakin. J. Investig. Dermatol. 111:308–313.
   PubMedGoogle Scholar
• Marekov, L. N., and Steinert P. M.. 1998. Ceramides are bound to structural proteins of the human foreskin epidermal cornified cell envelope. J. Biol. Chem. 273:17763–17770.
   PubMedGoogle Scholar
• Michel, S., Schmidt R., Robinson S. M., Shroot B., and Reichert U.. 1987. Identification and subcellular distribution of cornified envelope precursor proteins in the transformed human keratinocyte line SV-K14. J. Investig. Dermatol. 88:301–305.
   PubMedGoogle Scholar
• Mueller, S., Klaus-Kovtum V., and Stanley J. R.. 1989. A 230-kD basic protein is the major bullous pemphigoid antigen. J. Investig. Dermatol. 92:33–38.
   PubMed Web of Science ®Google Scholar
• Nemes, Z., Marekov L. N., Fesus L., and Steinert P.. 1999. A novel function for transglutaminase 1: attachment of long-chain ω-hydroxyceramides to involucrin by ester bond formation. Proc. Natl. Acad. Sci. USA 96:8402–8407.
   PubMed Web of Science ®Google Scholar
• Norgett, E. E., Hatsell S. J., Carvajal-Huerta L., Caberas J.-C. R., Common J., Purkis P. E., Whittock N., Leigh I. M., Stevens H. P., and Kelsell D. P.. 2000. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum. Mol. Genet. 9:2761–2766.
   PubMed Web of Science ®Google Scholar
• Rice, R. H., and Green H.. 1977. The cornified envelope of terminally differentiated human epidermal keratinocytes consists of cross-linked protein. Cell 11:417–422.
   PubMed Web of Science ®Google Scholar
• Ruhrberg, C., Hajibagheri M. A. N., Parry D. A. D., and Watt F. M.. 1997. Periplakin, a novel component of cornified envelopes and desmosomes that belongs to the plakin family and forms complexes with envoplakin. J. Cell Biol. 139:1835–1849.
   PubMedGoogle Scholar
• Ruhrberg, C., and Watt F. M.. 1997. The plakin family: versatile organizers of cytoskeletal architecture. Curr. Opin. Genet. Dev. 7:392–397.
   PubMed Web of Science ®Google Scholar
• Simon, M., and Green H.. 1984. Participation of membrane-associated proteins in the formation of the cross-linked envelope of the keratinocyte. Cell 36:827–834.
   PubMedGoogle Scholar
• Steinböck, F. A., and Wiche G.. 1999. Plectin: a cytolinker by design. Biol. Chem. 380:151–158.
   PubMedGoogle Scholar
• Steinert, P. 2000. The complexity and redundancy of epithelial barrier function. J. Cell Biol. 151:F5–F7.
   PubMedGoogle Scholar
• Steinert, P. M., and Marekov L. N.. 1999. Initiation of assembly of the cell envelope barrier structure of stratified squamous epithelia. Mol. Biol. Cell 10:4247–4261.
   PubMed Web of Science ®Google Scholar
• Storch, S. 1999. Wechselwirkungen von Proteinen mit den zytoplasmatischen Domänen der Mannose-6-Phosphat-Rezeptoren. Doctoral thesis. Georg-August-Universität, Göttingen, Germany.
   Google Scholar
• Straub, B., Boda J., Kuhn C., Schnoelzer M., Korf U., Kempf T., Spring H., Hatzfeld M., and Franke W.. 2003. A novel cell-cell junction system: the cortex adherens mosaic of lens fiber cells. J. Cell Sci. 116:4985–4995.
   PubMed Web of Science ®Google Scholar
• Sun, T.-T., and Green H.. 1976. Differentiation of epidermal keratinocyte in cell culture: formation of the cornified envelope. Cell 9:511–521.
   PubMedGoogle Scholar
• Tybulewicz, V., Crawford C., Jackson P., Bronson R., and Mulligan R.. 1991. Neonatal lethality and lymphopenia in mice with a homozygous disruption of the c-abl proto-oncogene. Cell 65:1153–1163.
   PubMed Web of Science ®Google Scholar
• Uitto, J., Pulkkinen L., Smith F. J. D., and McLean W. H. I.. 1996. Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy. Exp. Dermatol. 5:237–246.
   PubMedGoogle Scholar
• van den Heuvel, A. P. J., de Vries-Smits A. M. M., van Weeren P. C., Dijkers P. F., de Bruyn K. M. T., Riedl J. A., and Burgering B. M. T.. 2002. Binding of protein kinase B to the plakin family member periplakin. J. Cell Sci. 115:3957–3966.
   PubMedGoogle Scholar
• Vasioukhin, V., Bowers E., Bauer C., Degenstein L., and Fuchs E.. 2001. Desmoplakin is essential in epidermal sheet formation. Nat. Cell Biol. 3:1076–1085.
   PubMed Web of Science ®Google Scholar
• Wiche, G. 1998. Role of plectin in cytoskeleton organization and dynamics. J. Cell Sci. 111:2477–2486.
   PubMed Web of Science ®Google Scholar
• Yang, Y., Bauer C., Strasser G., Wollman R., Julien J.-P., and Fuchs E.. 1999. Integrators of the cytoskeleton that stabilize microtubules. Cell 98:229–238.
   PubMedGoogle Scholar
• Yang, Y., Dowling J., Yu Q. C., Kouklis P., Cleveland D. W., and Fuchs E.. 1996. An essential cytoskeletal linker protein connecting actin microfilaments to intermediate filaments. Cell 86:655–665.
   PubMedGoogle Scholar