Isolation and characterization of human repetin, a member of the fused gene family of the epidermal differentiation complex

Journal of Investigative Dermatology

Volumn 124, Issue 5, 2005, Pages 998-1007

  Huber, Marcel ^a   Siegenthaler, Georges ^b   Mirancea, Nicolae ^c   Marenholz, Ingo ^d   Nizetic, Dean ^e   Breitkreutz, Dirk ^c   Mischke, Dietmar ^d   Hohl, Daniel ^a,f  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^c GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^d HUMBOLDT UNIVERSITY   (Germany)

^e QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^f Service de Dermatologie   (Switzerland)

Author keywords

Fused gene; Iq21; Keratinocyte; Repetin; Terminal differentiation

Indexed keywords

KERATOHYALIN; PARVALBUMIN; PROFILAGGRIN; PROTEIN; PROTEIN PRECURSOR; REPETIN; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; EPIDERMIS; GENE EXPRESSION; GENE ISOLATION; HAIR ROOT; HUMAN; HUMAN CELL; HUMAN EXPERIMENT; HUMAN TISSUE; NONHUMAN; NORMAL HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BINDING; PROTEIN DOMAIN; TANDEM REPEAT; TISSUE DIFFERENTIATION; ULTRASTRUCTURE;

EID: 18244401894     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0022-202X.2005.23675.x     Document Type: Article

References (50)

1. Arin MJ, Hohl D, Roop DR: Disorders of keratinization. In: Royce M, Steinmann B (eds) Connective Tissue and its Heritable Disorders. New York: Wiley-Liss, 2002; p 1025-1068
2. Backendorf C, Hohl D: A common origin for cornified envelope proteins? Nat Genet 2:91, 1992
3. Breitkreutz D, Mirancea N, Schmidt C, et al: Inhibition of basement membrane formation by a nidogen-binding laminin γ1-chain fragment in human skin-organotypic cocultures. J Cell Sci 117:2611-2622, 2004
4. Chomczynski P, Sacchi N: Single-step method of RNA isolation by guanidium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159, 1987
5. Dale BA, Resing KA, Presland RB: Keratohyalin granule proteins. In: Leigh I, Lane B, Watt F (eds) The Keratinocyte Handbook. Cambridge: Cambridge University Press, 1994; p 323-350
6. de Viragh PA, Huber M, Hohl D: Involucrin mRNA is more abundant in human hair follicles than in normal epidermis. J Invest Dermatol 103:815-819, 1994
7. Eckert RL, Broome AM, Ruse M, Robinson N, Ryan D, Lee K: S100 proteins in the epidermis. J Invest Dermatol 123:23-33, 2004
8. Eckert RL, Crish JF, Robinson NA: The epidermal keratinocyte as a model for the study of gene regulation and cell differentiation. Physiol Rev 77:397-424, 1997
9. Falke JJ, Drake SK, Hazard AL, Peersen OB: Molecular tuning of ion binding to calcium signaling proteins. Quart Rev Biophys 27:219-290, 1994
10. Frenk E, Guggisberg D, Mevorah B, Hohl D: Meleda disease: Report of two cases investigated by electron microscopy. Dermatology 193:358-361, 1996
11. Fuchs E, Raghavan S: Getting under the skin of epidermal morphogenesis. Nat Rev Genet 3:199-209, 2002
12. Gan SQ, McBride W, Idler WW, Markova N, Steinert PM: Organisation, structure, and polymorphisms of the human profilaggrin gene. Biochemistry 29: 9432-9440, 1990
13. Green H, Kehinde O, Thomas J: Growth of cultured human epidermal cells into multiple epithelia suitable for grafting. Proc Natl Acad Sci USA 76: 5665-5668, 1979
14. Grenard P, Bates MK, Aeschlimann D: Evolution of transglutaminase genes: Identification of a transglutaminase gene cluster on human chromosome 15q15. J Biol Chem 276:33066-33078, 2001
15. Heizmann CW: The multifunctional S100 protein family. Meth Mol Biol 172:69-80, 2002
16. Hohl D, Aeschlimann D, Huber M: In vitro and rapid in situ transglutaminase assays for congenital ichthyoses - a comparative study. J Invest Dermatol 110:268-271, 1998
17. Hohl D, Lichti U, Breitkreutz D, Steinert PM, Roop DR: Transcription of the human loricrin gene in vitro is induced by calcium and cell density and suppressed by retinoic acid. J Invest Dermatol 96:414-418, 1991
18. Hohl D, Ruf Olano B, de Viragh PA, Huber M, Detrisac CJ, Schnyder UW, Roop DR: Expression patterns of loricrin in various species and tissues. Differentiation 54:25-34, 1993
19. Huber M, Rettler I, Bernasconi K, et al: Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 267:525-528, 1995
20. Huber M, Yee VC, Burri N, Vikerfors E, Lavrijsen AP, Paller AS, Hohl D: Consequences of seven novel mutations on the expression and structure of keratinocyte transglutaminase. J Biol Chem 272:21018-21026, 1997
21. Ishida-Yamamoto A, Hohl D, Roop DR, Iizuka H, Eady RAJ: Loricrin immunoreactivity in human skin: Localization to specific granules (L-granules) in acrosyringia. Arch Dermatol Res 285:491-498, 1993
22. Koch PJ, de Viragh PA, Scharer E: 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, 2000
23. Krieg P, Schuppler M, Koesters R, Mincheva A, Lichter P, Marks F: Repetin (Rptn), a new member of the "fused gene" subgroup within the S100 gene family encoding a murine epidermal differentiation protein. Genomics 43: 339-348, 1997
24. Makino T, Takaishi M, Morohashi M, Huh NH: Hornerin, a novel profilaggrin-like protein and differentiation-specific marker isolated from mouse skin. J Biol Chem 276:47445-47452, 2001
25. Marekov LN, Steinert PM: Ceramides are bound to structural proteins of the human foreskin epidermal cornified cell envelope. J Biol Chem 273: 17763-17770, 1998
26. Marenholz I, Volz A, Ziegler A, Davies A, Ragoussis I, Korge BP, Mischke D: Genetic analysis of the epidermal differentiation complex (EDC) on human chromosome 1q21: Chromosomal orientation, new markers, and a 6-Mb YAC contig. Genomics 37:295-302, 1996
27. Marenholz I, Zirra M, Fischer DF, Backendorf C, Ziegler A, Mischke D: Identification of human epidermal differentiation complex (EDC)-encoded genes by subtractive hybridization of entire YACs to a gridded keratinocyte cDNA library. Genome Res 11:341-355, 2001
28. Marshall D, Hardman MJ, Nield KM, Byrne C: Differentially expressed late constituents of the epidermal cornified envelope. Proc Natl Acad Sci USA 98:13031-13036, 2001
29. Mischke D, Korge BP, Marenholz I, Volz A, Ziegler A: Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex ("epidermal differentiation complex") on human chromosome 1q21. J Invest Dermatol 106:989-992, 1996
30. Nizetic D, Lehrach H: Chromosome-specific gridded cosmid libraries: Construction, handling, and use in parallel and integrated mapping. In: Glover DM, Hames BD (eds) DNA Cloning 3 - Practical Approach. Oxford: Oxford University Press, 1995; p 49-79
31. Nizetic D, Monard S, Young B, Cotter F, Zehetner G, Lehrach H: Construction of cosmid libraries from flow-sorted human chromosomes 1, 6, 7, 11, 13, 18 for reference library resources. Mamm Genome 5:801-802, 1994
32. Pearton DJ, Dale BA, Presland RB: Functional analysis of the profilaggrin N-terminal peptide: Identification of domains that regulate nuclear and cytoplasmic distribution. J Invest Dermatol 119:661-669, 2002
33. Presland RB, Dale BA: Epithelial structural proteins of the skin and oral cavity: Function in health and disease. Crit Rev Oral Biol Med 11:383-408, 2000
34. Resing KA, Thulin C, Whiting K, Al-Alawi N, Mostad S: Characterization of profilaggrin endoproteinase 1. J Biol Chem 270:28193-28198, 1995
35. Rheinwald JG, Green H: Serial cultivation of strains of human epidermal keratinocytes: The formation of keratinizing colonies from single cells. Cell 6:331-344, 1975
36. Rheinwald JG, Green H: Epidermal growth factor and the multiplication of human epidermal keratinocytes. Nature 265:421-424, 1977
37. Robinson NA, Lapic S, Welter JF, Eckert RL: S100A11, S100A10, annexin I, desmosomal proteins, small proline-rich proteins, plasminogen activator inhibitor-2, and involucrin are components of the cornified envelope of cultured human epidermal keratinocytes. J Biol Chem 272:12035-12046, 1997
38. Rothnagel JA, Rogers GE: Trichohyalin, an intermediate filament-associated protein of the hair follicle. J Cell Biol 102:1419-1429, 1986
39. Segre JA, Bauer C, Fuchs E: Klf4 is a transcription factor required for establishing the barrier function of the skin. Nat Genet 22:356-360, 1999
40. Siegenthaler G, Roulin K, Chatellard-Gruaz D, Hotz R, Saurat JH, Hellman U, Hagens G: A heterocomplex formed by the calcium-binding proteins MRP8 (S100A8) and MRP14 (S100A9) binds unsaturated fatty acids with high affinity. J Biol Chem 272:9371-9377, 1997
41. South AP, Cabral A, Ives JH, et al: Human epidermal differentiation complex in a single 2.5 Mbp long continuum of overlapping DNA cloned in bacteria integrating physical and transcript maps. J Invest Dermatol 112:910-918, 1999
42. Steinert PM: The complexity and redundancy of epithelial barrier function. J Cell Biol 151:5-F8, 2000
43. Steinert PM, Marekov LN: The proteins elafin, filaggrin, keratin intermediate filaments, loricrin, and small proline-rich proteins 1 and 2 are isodipeptide cross-linked components of the human epidermal cornified cell envelope. J Biol Chem 270:17702-17711, 1995
44. Steinert PM, Parry D, Marekov L: Trichohyalin mechanically strengthens the hair follicle: Multiple cross-bridging roles in the inner root sheath. J Biol Chem 278:41409-41419, 2003
45. Swartzendruber DC, Kitko DJ, Wertz PW, Madison KC, Downing DT: Isolation of corneocyte envelopes from porcine epidermis. Arch Dermatol Res 280:424-429, 1988
46. Turksen K, Troy T: Permeability barrier dysfunction in transgenic mice overexpressing claudin 6. Development 129:1775-1784, 2002
47. Volz A, Korge BP, Compton JG, Ziegler A, Steinert PM, Mischke D: Physical mapping of a functional cluster of epidermal differentiation genes on chromosome 1q21. Genomics 18:92-99, 1993
48. Xu Z, Wang MR, Xu X, et al: Novel human esophagus-specific gene c1orf10: cDNA cloning, gene structure, and frequent loss of expression in esophageal cancer. Genomics 69:322-330, 2000
49. Zhang D, Karunaratne S, Kessler M, Mahony D, Rothnagel JA: Characterization of mouse profilaggrin: Evidence for nuclear engulfment and translocation of the profilaggrin B-domain during epidermal differentiation. J Invest Dermatol 119:905-912, 2002
50. Zhao XP, Elder JT: Positional cloning of novel skin-specific genes from the human epidermal differentiation complex. Genomics 45:250-258, 1997