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complex
The epidermal differentiation complex (EDC) is a gene
complex comprising over fifty genes encoding proteins
involved in the terminal differentiation and cornification of
keratinocytes, the primary cell type of the epidermis. In
humans, the complex is located on a 1.9 Mbp stretch within
chromosome 1q21.[1][2] The proteins encoded by EDC genes
are closely related in terms of function, and evolutionarily
they belong to three distinct gene families: the cornified
envelope precursor family, the S100 protein family and the
S100 fused type protein (SFTP) family.[3]
Contents
1 History
2 EDC genes
2.1 Cornified envelope precursor family
2.2 S100 family
2.3 SFTP family
3 Regulation of EDC gene expression
4 References
History
The epidermal differentiation complex was first described in
1993,[1] and further characterized in 1996, when Dietmar
Mischke and colleagues noted the "close functional
cooperation among [eleven] structurally and evolutionary
related genes".[2] By 2001, 37 genes had been identified as
members of the EDC.[6] The number rose to 43 in 2002,[7]
and by 2012 a total of 57 genes were considered part of the
complex.[3]
EDC genes
Cornified envelope precursor family
involucrin (IVL)
loricrin (LOR)
SPRR1A (cornifin A)
SPRR1B (cornifin B)
SPRR2A
SPRR2B
SPRR2C
SPRR2D
SPRR2E
SPRR2F
SPRR2G
SPRR3
SPRR4
LCE1A
LCE1B
LCE1C
LCE1D
LCE1E
LCE1F
LCE2A
LCE2B
LCE2C
LCE2D
LCE3A
LCE3B
LCE3C
LCE3D
LCE3E
LCE4A
LCE5A
LCE6A
LEP7
S100 family
SFTP family
filaggrin (FLG)
filaggrin-2 (FLG2)
trichohyalin (TCHH)
trichohyalin-like 1 (TCHHL1)
cornulin (CRNN)
repetin (RPTN)
hornerin (HRNR)
References
1. ^ a b Volz, Armin; Korge, Bernhard P.; Compton, John
G.; Ziegler, Andreas; Steinert, Peter M.; Mischke,
Dietmar (October 1993). "Physical Mapping of a
Functional Cluster of Epidermal Differentiation Genes
on Chromosome 1q21". Genomics. 18 (1): 92–99.
doi:10.1006/geno.1993.1430. PMID 8276421.
2. ^ a b Mischke, Dietmar; Korge, Bernhard P.; Marenholz,
Ingo; Volz, Armin; Ziegler, Andreas (May 1996). "Genes
Encoding Structural Proteins of Epidermal Cornification
and S100 Calcium-Binding Proteins Form a Gene
Complex ("Epidermal Differentiation Complex") on
Human Chromosome 1q21". Journal of Investigative
Dermatology. 106 (5): 989–992. doi:10.1111/1523-
1747.ep12338501. PMID 8618063.
3. ^ a b c d e f g h i j k l m Kypriotou, Magdalini; Huber,
Marcel; Hohl, Daniel (September 2012). "The human
epidermal differentiation complex: cornified envelope
precursors, S100 proteins and the 'fused genes' family".
Experimental Dermatology. 21 (9): 643–649.
doi:10.1111/j.1600-0625.2012.01472.x. PMID 22507538.
4. Backendorf, C; Hohl, D (October 1992). "A common
origin for cornified envelope proteins?". Nature
Genetics. 2 (2): 91. doi:10.1038/ng1092-91.
PMID 1303269.
5. Hoffjan, S; Stemmler, S (September 2007). "On the role
of the epidermal differentiation complex in ichthyosis
vulgaris, atopic dermatitis and psoriasis". British Journal
of Dermatology. 157 (3): 441–449. doi:10.1111/j.1365-
2133.2007.07999.x. PMID 17573887.
6. Marenholz, I; Zirra, M; Fischer, DF; Backendorf, C;
Ziegler, A; Mischke, D (March 2001). "Identification of
human epidermal differentiation complex (EDC)-
encoded genes by subtractive hybridization of entire
YACs to a gridded keratinocyte cDNA library". Genome
Research. 11 (3): 341–55. doi:10.1101/gr.114801.
PMC 311024. PMID 11230159.
7. Elder, James T.; Zhao, Xinping (October 2002).
"Evidence for local control of gene expression in the
epidermal differentiation complex" (PDF). Experimental
Dermatology. 11 (5): 406–412. doi:10.1034/j.1600-
0625.2002.110503.x. hdl:2027.42/71593.
8. Wu, Zhihong; Hansmann, Britta; Meyer-Hoffert, Ulf;
Gläser, Regine; Schröder, Jens-Michael; Egles,
Christophe (22 April 2009). "Molecular Identification
and Expression Analysis of Filaggrin-2, a Member of the
S100 Fused-Type Protein Family". PLoS ONE. 4 (4):
e5227. doi:10.1371/journal.pone.0005227.
PMC 2668185. PMID 19384417.
9. de Guzman Strong, C.; Conlan, S.; Deming, C. B.;
Cheng, J.; Sears, K. E.; Segre, J. A. (20 January 2010).
"A milieu of regulatory elements in the epidermal
differentiation complex syntenic block: implications for
atopic dermatitis and psoriasis". Human Molecular
Genetics. 19 (8): 1453–1460. doi:10.1093/hmg/ddq019.
PMC 2846160. PMID 20089530.
10. Pellerin, Laurence; Henry, Julie; Hsu, Chiung-Yueh;
Balica, Stéfana; Jean-Decoster, Catherine; Méchin,
Marie-Claire; Hansmann, Britta; Rodriguez, Elke;
Weindinger, Stefan; Schmitt, Anne-Marie; Serre, Guy;
Paul, Carle; Simon, Michel (April 2013). "Defects of
filaggrin-like proteins in both lesional and nonlesional
atopic skin". Journal of Allergy and Clinical Immunology.
131 (4): 1094–1102. doi:10.1016/j.jaci.2012.12.1566.
PMID 23403047.