Self-improvement of keratinocyte differentiation defects during skin maturation in ABCA12-deficient harlequin ichthyosis model mice

American Journal of Pathology

Volumn 177, Issue 1, 2010, Pages 106-118

  Yanagi, Teruki ^a   Akiyama, Masashi ^a   Nishihara, Hiroshi ^a   Ishikawa, Junko ^b   Sakai, Kaori ^a   Miyamura, Yuki ^a   Naoe, Ayano ^b   Kitahara, Takashi ^b   Tanaka, Shinya ^a   Shimizu, Hiroshi ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b KAO CORPORATION   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER A12; CERAMIDE; COMPLEMENTARY DNA; FILAGGRIN; KALLIKREIN 5; LORICRIN; MESSENGER RNA; PROFILAGGRIN; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CELL CULTURE; CELL DIFFERENTIATION; CELL MATURATION; CONTROLLED STUDY; CYTOPATHOLOGY; DNA MICROARRAY; EPIDERMIS; FEMALE; FETUS DEVELOPMENT; GENE EXPRESSION; HARLEQUIN ICHTHYOSIS; ICHTHYOSIS; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; KERATINOCYTE; LIPID TRANSPORT; MOUSE; NEWBORN; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN METABOLISM; SKIN GRAFT; SKIN WATER LOSS; UPREGULATION;

EID: 77954591960     PISSN: 00029440     EISSN: 15252191     Source Type: Journal    
DOI: 10.2353/ajpath.2010.091120     Document Type: Article

References (28)

1. Akiyama M: Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases. Arch Dermatol 2006, 142:914-918
2. Hovnanian A: Harlequin ichthyosis unmasked: a defect of lipid transport. J Clin Invest 2005, 115:1708-1710
3. Akiyama M, Sugiyama-Nakagiri Y, Sakai K, McMillan JR, Goto M, Arita K, Tsuji-Abe Y, Tabata N, Matsuoka K, Sasaki R, Sawamura D, Shimizu H: Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest 2005, 115:1777-1784
4. Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA, Tadini G, Fleckman P, Stephens KG, Sybert VP, Mallory SB, North BV, Witt DR, Sprecher E, Taylor AE, Ilchyshyn A, Kennedy CT, Goodyear H, Moss C, Paige D, Harper JI, Young BD, Leigh IM, Eady RA, O'Toole EA: Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet 2005, 76:794-803
5. Yanagi T, Akiyama M, Nishihara H, Sakai K, Nishie W, Tanaka S, Shimizu H: Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects. Hum Mol Genet 2008, 17:3075-3083
6. Zuo Y, Zhuang DZ, Han R, Isaac G, Tobin JJ, McKee M, Welti R, Brissette JL, Fitzgerald ML, Freeman MW: ABCA12 maintains the epidermal lipid permeability barrier by facilitating formation of ceramide linoleic esters. J Biol Chem 2008, 283:36624-36635
7. Akiyama M, Smith LT, Shimizu H: Expression of transglutaminase activity in developing human epidermis. Br J Dermatol 2000, 142:223-225 (Pubitemid 30117689)
8. Raghunath M, Hennies HC, Velten F, Wiebe V, Steinert PM, Reis A, Traupe H: A novel in situ method for the detection of deficient transglutaminase activity in the skin. Arch Dermatol Res 1998, 290:621-627 (Pubitemid 28528666)
9. Masukawa Y, Narita H, Shimizu E, Kondo N, Sugai Y, Oba T, Homma R, Ishikawa J, Takagi Y, Kitahara T, Takema Y, Kita K: Characterization of overall ceramide species in human stratum corneum. J Lipid Res 2008, 49:1466-1476
10. Buxman MM, Goodkin PE, Fahrenbach WH, Dimond RL: Harlequin ichthyosis with epidermal lipid abnormality. Arch Dermatol 1979, 115:189-193
11. Dale BA, Holbrook KA, Fleckman P, Kimball JR, Brumbaugh S, Sybert VP: Heterogeneity in harlequin ichthyosis, an inborn error of epidermal keratinization: variable morphology and structural protein expression and a defect in lamellar granules. J Invest Dermatol 1990, 94:6-18 (Pubitemid 20046034)
12. Fleckman P, Hager B, Dale BA: Harlequin ichthyosis keratinocytes in lifted culture differentiate poorly by morphologic and biochemical criteria. J Invest Dermatol 1997, 109:36-38 (Pubitemid 27305646)
13. Thomas AC, Tattersall D, Norgett EE, O'Toole EA, Kelsell DP: Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis. Am J Pathol 2009, 174:970-978
14. Bickenbach JR, Greer JM, Bundman DS, Rothnagel JA, Roop DR: Loricrin expression is coordinated with other epidermal proteins and the appearance of lipid lamellar granules in development. J Invest Dermatol 1995, 104:405-410
15. Candi E, Schmidt R, Melino G: The cornified envelope: a model of cell death in the skin. Nat Rev Mol Cell Biol 2005, 6:328-340 (Pubitemid 40516899)
16. Denecker G, Ovaere P, Vandenabeele P, Declercq W: Caspase-14 reveals its secrets. J Cell Biol 2008, 180:451-458
17. Meyer-Hoffert U, Wu Z, Schroder JM: Identification of lympho-epithelial Kazal-type inhibitor 2 in human skin as a kallikrein-related peptidase 5-specific protease inhibitor. PLoS One 2009, 4:e4372
18. Koch PJ, de Viragh PA, Scharer E, Bundman D, Longley MA, Bickenbach J, Kawachi Y, Suga Y, Zhou Z, Huber M, Hohl D, Kartasova T, Jarnik M, Steven AC, Roop DR: Lessons from loricrin-deficient mice: compensatory mechanisms maintaining skin barrier function in the absence of a major cornified envelope protein. J Cell Biol 2000, 151:389-400
19. Epp N, Furstenberger G, Muller K, de Juanes S, Leitges M, Hausser I, Thieme F, Liebisch G, Schmitz G, Krieg P: 12R-lipoxygenase deficiency disrupts epidermal barrier function. J Cell Biol 2007, 177:173-182 (Pubitemid 46588410)
20. de Juanes S, Epp N, Latzko S, Neumann M, Furstenberger G, Hausser I, Stark HJ, Krieg P: Development of an Ichthyosiform Phenotype in Alox12b-Deficient Mouse Skin Transplants. J Invest Dermatol 2009, 129:1429-1436
21. Kuramoto N, Takizawa T, Takizawa T, Matsuki M, Morioka H, Robinson JM, Yamanishi K: Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1. J Clin Invest 2002, 109:243-250 (Pubitemid 34083744)
22. Prasad RS, Pejaver RK, Hassan A, Dusari S, Wooldridge MA: Management and follow-up of harlequin siblings. Br J Dermatol 1994, 130:650-653
23. Lawlor F, Peiris S: Harlequin fetus successfully treated with etretinate. Br J Dermatol 1985, 112:585-590 (Pubitemid 15060999)
24. Ward PS, Jones RD: Successful treatment of a harlequin fetus. Arch Dis Child 1989, 64:1309-1311
25. Haftek M, Cambazard F, Dhouailly D, Reano A, Simon M, Lachaux A, Serre G, Claudy A, Schmitt D: A longitudinal study of a harlequin infant presenting clinically as non-bullous congenital ichthyosiform erythroderma. Br J Dermatol 1996, 135:448-453 (Pubitemid 26297844)
26. Singh S, Bhura M, Maheshwari A, Kumar A, Singh CP, Pandey SS: Successful treatment of harlequin ichthyosis with acitretin. Int J Dermatol 2001, 40:472-473 (Pubitemid 32982305)
27. Eichner R, Kahn M, Capetola RJ, Gendimenico GJ, Mezick JA: Effects of topical retinoids on cytoskeletal proteins: implications for retinoid effects on epidermal differentiation. J Invest Dermatol 1992, 98:154-161
28. Eichner R: Epidermal effects of retinoids: in vitro studies. J Am Acad Dermatol 1986, 15:789-797