1,539
Views
31
CrossRef citations to date
0
Altmetric
Review

The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis

Pages 107-112 | Published online: 01 Apr 2011

References

  • Annilo T, Shulenin S, Chen ZQ, Arnould I, Prades C, Lemoine C, et al. Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34. Cytogenet Genome Res 2002; 98:169 - 176
  • Borst P, Elferink RO. Mammalian ABC transporters in health and disease. Annu Rev Biochem 2002; 71:537 - 592
  • Peelman F, Labeur C, Vanloo B, Roosbeek S, Devaud C, Duverger N, et al. Characterization of the ABCA transporter subfamily: identification of prokaryotic and eukaryotic members, phylogeny and topology. J Mol Biol 2003; 325:259 - 274
  • Akiyama M, Sugiyama-Nakagiri Y, Sakai K, McMillan JR, Goto M, Arita K, et al. Mutations in ABCA12 in harlequin ichthyosis and functional rescue by corrective gene transfer. J Clin Invest 2005; 115:1777 - 1784
  • Sakai K, Akiyama M, Sugiyama-Nakagiri Y, McMillan JR, Sawamura D, Shimizu H. Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes. Exp Dermatol 2007; 16:920 - 926
  • Mitsutake S, Suzuki C, Akiyama M, Tsuji K, Yanagi T, Shimizu H, et al. ABCA12 dysfunction causes a disorder in glucosylceramide accumulation during keratinocyte differentiation. J Dermatol Sci 2010; 60:128 - 129
  • Akiyama M. Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases. Arch Dermatol 2006; 142:914 - 918
  • Yamano G, Funahashi H, Kawanami O, Zhao LX, Ban N, Uchida Y, et al. ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells. FEBS Lett 2001; 508:221 - 225
  • Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M. ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med 2004; 350:1296 - 1303
  • Bodzioch M, Orsó E, Klucken J, Langmann T, Böttcher A, Diederich W, et al. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nat Genet 1999; 22:316 - 318
  • Brooks-Wilson A, Marcil M, Clee SM, Zhang LH, Roomp K, van Dam M, et al. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet 1999; 22:336 - 345
  • Rust S, Rosier M, Funke H, Real J, Amoura Z, Piette JC, et al. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat Genet 1999; 22:352 - 355
  • Klucken J, Buchler C, Orso E, et al. ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport. Proc Natl Acad Sci USA 2000; 97:817 - 822
  • Kaminski WE, Piehler A, Püllmann K, Porsch-Ozcürümez M, Duong C, Bared GM, et al. Complete coding sequence, promoter region and genomic structure of the human ABCA2 gene and evidence for sterol-dependent regulation in macrophages. Biochem Biophys Res Commun 2001; 281:249 - 258
  • Schmitz G, Langmann T. Structure, function and regulation of the ABC1 gene product. Curr Opin Lipidol 2001; 12:129 - 140
  • Weng J, Mata NL, Azarian SM, Tzekov RT, Birch DG, Travis GH. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell 1999; 98:13 - 23
  • Hayden MR, Clee SM, Brooks-Wilson A, Genest J Jr, Attie A, Kastelein JJ. Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein deficiency. Curr Opin Lipidol 2000; 11:117 - 122
  • Orsó E, Broccardo C, Kaminski WE, Böttcher A, Liebisch G, Drobnik W, et al. Transport of lipids from Golgi to plasma membrane is defective in Tangier disease patients and Abc1-deficient mice. Nat Genet 2000; 24:192 - 196
  • Lee HK, Nam GW, Kim SH, Lee SH. Phytocomponents of triterpenoids, oleanolic acid and ursolic acid, regulated differently the processing of epidermal keratinocytes via PPAR-alpha pathway. Exp Dermatol 2006; 15:66 - 73
  • Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, et al. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet 2005; 76:794 - 803
  • Jiang YJ, Uchida Y, Lu B, Kim P, Mao C, Akiyama M, et al. Ceramide stimulates ABCA12 expression via peroxisome proliferator-associated receptor delta in human keratinocytes. J Biol Chem 2009; 284:18942 - 18952
  • Yanagi T, Akiyama M, Nishihara H, Ishikawa J, Sakai K, Miyamura Y, et al. Self-improvement of keratinocyte differentiation defects during skin maturation in ABCA12 deficient harlequin ichthyosis model mice. Am J Pathol 2010; 177:106 - 118
  • Akiyama M. ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenic concepts. Hum Mutat 2010; 31:1090 - 1096
  • Lefèvre C, Audebert S, Jobard F, Bouadjar B, Lakhdar H, Boughdene-Stambouli O, et al. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum Mol Genet 2003; 12:2369 - 2378
  • 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
  • Milner ME, O'Guin WM, Holbrook KA, Dale BA. Abnormal lamellar granules in harlequin ichthyosis. J Invest Dermatol 1992; 99:824 - 829
  • Akiyama M, Kim DK, Main DM, Otto CE, Holbrook KA. Characteristic morphologic abnormality of harlequin ichthyosis detected in amniotic fluid cells. J Invest Dermatol 1994; 102:210 - 213
  • Akiyama M, Dale BA, Smith LT, Shimizu H, Holbrook KA. Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetuses. Prenat Diagn 1998; 18:425 - 436
  • Akiyama M, Sakai K, Sugiyama-Nakagiri Y, Yamanaka Y, McMillan JR, Sawamura D, et al. Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity. J Invest Dermatol 2006; 126:1518 - 1523
  • Natsuga K, Akiyama M, Kato N, Sakai K, Sugiyama-Nakagiri Y, Nishimura M, et al. Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia. J Invest Dermatol 2007; 127:2669 - 2673
  • Akiyama M. Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms. J Dermatol Sci 2006; 42:83 - 89
  • 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
  • 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
  • Smyth I, Hacking DF, Hilton AA, Mukhamedova N, Meikle PJ, Ellis S, et al. A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis. PLoS Genet 2008; 4:1000192
  • Yamanaka Y, Akiyama M, Sugiyama-Nakagiri Y, Sakai K, Goto M, McMillan JR, et al. Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis. Am J Pathol 2007; 171:43 - 52
  • Yanagi T, Akiyama M, Nishihara H, Sakai K, Nishie W, Tanaka S, et al. Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects. Hum Mol Genet 2008; 17:3075 - 3083
  • Zuo Y, Zhuang DZ, Han R, Isaac G, Tobin JJ, McKee M, et al. ABCA12 maintains the epidermal lipid permeability barrier by facilitating formation of ceramide linoleic esters. J Biol Chem 2008; 283:36624 - 36635