Abstract |
The 180-kDa bullous pemphigoid antigen (BPAG2) is a candidate gene/ protein for mutations in some forms of junctional epidermolysis bullosa. In this study, we searched for mutations in BPAG2 in a large Austrian pedigree with generalized atrophic benign epidermolysis bullosa, a distinct nonlethal form of junctional epidermolysis bullosa, using polymerase chain reaction amplification of genomic DNA, heteroduplex analysis of the polymerase chain reaction products, and direct nucleotide sequencing. We identified a homozygous 2-bp deletion within the coding region of BPAG2 in the affected individuals. This mutation results in a frameshift and downstream stop codons on both alleles, predicting an absence of functional protein. These findings illustrate the molecular basis of the skin fragility in this family and attest to the importance of the 180-kDa bullous pemphigoid antigen in the attachment of the epidermis to the underlying dermoepidermal basement membrane.
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Authors | J A McGrath, T Darling, B Gatalica, G Pohla-Gubo, H Hintner, A M Christiano, K Yancey, J Uitto |
Journal | The Journal of investigative dermatology
(J Invest Dermatol)
Vol. 106
Issue 4
Pg. 771-4
(Apr 1996)
ISSN: 0022-202X [Print] United States |
PMID | 8618019
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- Autoantigens
- Carrier Proteins
- Cytoskeletal Proteins
- Dst protein, mouse
- Dystonin
- Nerve Tissue Proteins
- Non-Fibrillar Collagens
- collagen type XVII
- Collagen
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Topics |
- Autoantigens
(genetics)
- Base Sequence
- Carrier Proteins
- Collagen
- Cytoskeletal Proteins
- Dystonin
- Epidermolysis Bullosa Dystrophica
(genetics)
- Gene Deletion
- Molecular Sequence Data
- Molecular Weight
- Mutation
- Nerve Tissue Proteins
- Non-Fibrillar Collagens
- Pedigree
- Pemphigoid, Bullous
(immunology)
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