A viable mouse model for Netherton syndrome based on mosaic inactivation of the Spink5 gene

Biological Chemistry

Volumn 397, Issue 12, 2016, Pages 1287-1292

  Kasparek, Petr ^a   Ileninova, Zuzana ^a   Haneckova, Radka ^a   Kanchev, Ivan ^b   Jenickova, Irena ^b   Sedlacek, Radislav ^a  

^a INSTITUTE OF MOLECULAR GENETICS   (Czech Republic)

^b Institute of Biotechnology   (Czech Republic)

Author keywords

mosaicism; mouse model; Netherton syndrome; skin; SPINK5; TALEN

Indexed keywords

CYTOKERATIN 6; DNA; INTERCELLULAR ADHESION MOLECULE 1; INTERLEUKIN 1BETA; MESSENGER RNA; THYMIC STROMAL LYMPHOPOIETIN; TUMOR NECROSIS FACTOR; SERINE PROTEINASE INHIBITOR; SPINK5 PROTEIN, MOUSE;

ALOPECIA; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BODY SURFACE; CELL PROLIFERATION; CLUSTERED REGULARLY INTERSPACED SHORT PALINDROMIC REPEAT; CONGENITAL SKIN DISEASE; CONTROLLED STUDY; DERMATITIS; FRAMESHIFT MUTATION; GENE; GENE INACTIVATION; GROWTH RETARDATION; HOMOZYGOTE; IMMUNOHISTOLOGY; MOSAICISM; MOUSE; NETHERTON DISEASE; NEWBORN; NEWBORN PERIOD; NONHUMAN; NONSENSE MEDIATED MRNA DECAY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SKIN DEFECT; SKIN WATER LOSS; SPINK5 GENE; STOP CODON; ZYMOGRAPHY; ANIMAL; C57BL MOUSE; DEFICIENCY; DISEASE MODEL; FEMALE; GENE SILENCING; GENETICS; MALE;

ANIMALS; DISEASE MODELS, ANIMAL; FEMALE; GENE SILENCING; MALE; MICE; MICE, INBRED C57BL; MOSAICISM; NETHERTON SYNDROME; PHENOTYPE; SERPINS;

EID: 84994666598     PISSN: 14316730     EISSN: 14374315     Source Type: Journal    
DOI: 10.1515/hsz-2016-0194     Document Type: Article

References (17)

1. Bitoun, E., Micheloni, A., Lamant, L., Bonnart, C., Tartaglia-Polcini, A., Cobbold, C., Al Saati, T., Mariotti, F., Mazereeuw-Hautier, J., Boralevi, F., et al. (2003). LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome. Hum. Mol. Genet. 12, 2417-2430.
2. Bonnart, C., Deraison, C., Lacroix, M., Uchida, Y., Besson, C., Robin, A., Briot, A., Gonthier, M., Lamant, L., Dubus, P., et al. (2010). Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing. J. Clin. Invest. 120, 871-882.
3. Briot, A., Deraison, C., Lacroix, M., Bonnart, C., Robin, A., Besson, C., Dubus, P., Hovnanian, A. (2009). Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome. J. Exp. Med. 206, 1135-1147.
4. Crosby, J. R., Seifert, R. A., Soriano, P., Bowen-Pope, D. F. (1998). Chimaeric analysis reveals role of Pdgf receptors in all muscle lineages. Nat. Genet. 18, 385-388.
5. Descargues, P., Deraison, C., Bonnart, C., Kreft, M., Kishibe, M., Ishida-Yamamoto, A., Elias, P., Barrandon, Y., Zambruno, G., Sonnenberg, A., et al. (2005). Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity. Nat. Genet. 37, 56-65.
6. Descargues, P., Deraison, C., Prost, C., Fraitag, S., Mazereeuw-Hautier, J., D'Alessio, M., Ishida-Yamamoto, A., Bodemer, C., Zambruno, G., Hovnanian, A. (2006). Corneodesmosomal cadherins are preferential targets of stratum corneum trypsinand chymotrypsin-like hyperactivity in Netherton syndrome. J. Invest. Dermatol. 126, 1622-1632.
7. Diociaiuti, A., Castiglia, D., Fortugno, P., Bartuli, A., Pascucci, M., Zambruno, G., El Hachem, M. (2013). Lethal Netherton syndrome due to homozygous p. Arg371X mutation in SPINK5. Pediatr. Dermatol. 30, e65-e67.
8. Hewett, D. R., Simons, A. L., Mangan, N. E., Jolin, H. E., Green, S. M., Fallon, P. G., McKenzie, A. N. (2005). Lethal, neonatal ichthyosis with increased proteolytic processing of filaggrin in a mouse model of Netherton syndrome. Hum. Mol. Genet. 14, 335-346.
9. Hsu, P. D., Lander, E. S., Zhang, F. (2014). Development and applications of CRISPR-Cas9 for genome engineering. Cell 157, 1262-1278.
10. Huijbers, I. J., Krimpenfort, P., Berns, A., Jonkers, J. (2011). Rapid validation of cancer genes in chimeras derived from established genetically engineered mouse models. Bioessays 33, 701-710.
11. Chavanas, S., Bodemer, C., Rochat, A., Hamel-Teillac, D., Ali, M., Irvine, A. D., Bonafe, J. L., Wilkinson, J., Taieb, A., Barrandon, Y., et al. (2000). Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat. Genet. 25, 141-142.
12. Kasparek, P., Krausova, M., Haneckova, R., Kriz, V., Zbodakova, O., Korinek, V., Sedlacek, R. (2014). Efficient gene targeting of the Rosa26 locus in mouse zygotes using TALE nucleases. FEBS Lett. 588, 3982-3988.
13. Sales, K. U., Masedunskas, A., Bey, A. L., Rasmussen, A. L., Weigert, R., List, K., Szabo, R., Overbeek, P. A., Bugge, T. H. (2010). Matriptase initiates activation of epidermal pro-kallikrein and disease onset in a mouse model of Netherton syndrome. Nat. Genet. 42, 676-683.
14. Shirane, M., Sawa, H., Kobayashi, Y., Nakano, T., Kitajima, K., Shinkai, Y., Nagashima, K., Negishi, I. (2001). Deficiency of phospholipase C-1 impairs renal development and hematopoiesis. Development 128, 5173-5180.
15. Sun, J. D. and Linden, K. G. (2006). Netherton syndrome: a case report and review of the literature. Int. J. Dermatol. 45, 693-697.
16. Yang, T., Liang, D., Koch, P. J., Hohl, D., Kheradmand, F., Overbeek, P. A. (2004). Epidermal detachment, desmosomal dissociation, destabilization of corneodesmosin in Spink5-/-mice. Genes. Dev. 18, 2354-2358.
17. Yen, S. T., Zhang, M., Deng, J. M., Usman, S. J., Smith, C. N., Parker-Thornburg, J., Swinton, P. G., Martin, J. F., Behringer, R. R. (2014). Somatic mosaicism and allele complexity induced by CRISPR/Cas9 RNA injections in mouse zygotes. Dev. Biol. 393, 3-9.