Dystrophic epidermolysis bullosa (DEB) is a rare genodermatosis characterized by fragility,
blistering and abnormal scarring of the skin and mucous membranes, showing different
degree of cutaneous and extracutaneous involvement. Several variants have been described
[
1
,
2
], due to dominant (DDEB) or recessive (RDEB) mutations in COL7A1 gene encoding for pro-α1 (VII) collagen chain [
1
,
2
]. Three identical pro-α1 (VII) chains, consisting of a central collagenous domain,
and two flanking amino- and carboxy-terminal noncollagenous domains (NC1 and NC2,
respectively), assemble into type VII collagen homotrimers (COLLVII), which aggregate
to form anchoring fibrils (AF). These structures ensure the dermal–epidermal adhesion
[
[1]
]. The NC1 globular domain, pointing outwards the AF, is composed by several subdomains
with homology to adhesive proteins: a segment with a 40% homology to cartilage matrix
protein (CMP), nine consecutive fibronectin type III-like repeats, and a von Willebrand
factor motif [
[3]
]. All these modules may exert an important role in the attachment of COLLVII to other
proteins of the dermal–epidermal junction (DEJ).Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Journal of Dermatological ScienceAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Epidermolysis bullosa.in: Rimoin D.L. Connor J.M. Pyeritz R.E. Korf B.R. Principles and practice of medical genetics. Churchill Livingstone, London2002: 3810-3897
- The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.J Am Acad Dermatol. 2008; 58: 931-950
- Alpha 2 beta 1 integrin mediates dermal fibroblast attachment to type VII collagen via a 158-amino-acid segment of the NC1 domain.Exp Cell Res. 1999; 249: 231-239
- Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.J Invest Dermatol. 2002; 119: 1456-1462
- Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization.Clin Genet. 2006; 70: 339-347
- Epidermolysis bullosa II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes.J Med Genet. 2007; 44: 181-192
- Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants.J Dermatol Sci. 2007; 46: 169-178
- Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa: identification of nine novel mutations.BBRC. 2005; 338: 1391-1401
- Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients.J Dermatol Sci. 2001; 26: 125-132
- Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.Exp Dermatol. 2008; 17: 553-568
- Premature termination codon mutations in the type VII collagen gene in recessive dystrophic epidermolysis bullosa result in nonsense-mediated mRNA decay and absence of functional protein.J Invest Dermatol. 1997; 109: 390-394
- Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges.Trends Mol Med. 2006; 12: 306-316
- Laminin 5 binds the NC-1 domain of type VII collagen.J Cell Biol. 1997; 138: 719-728
- Interactions of the amino-terminal noncollagenous (NC1) domain of type VII collagen with extracellular matrix components. A potential role in epidermal-dermal adherence in human skin.J Biol Chem. 1997; 272: 14516-14522
Article info
Publication history
Published online: July 12, 2010
Received:
June 20,
2008
Identification
Copyright
Published by Elsevier Inc.
