Abstract
Type VII collagen is the major, if not the exclusive, component of the anchoring fibrils, attachment structures at the dermal-epidermal basement membrane zone. In this study, we have isolated overlapping cDNA clones which correspond to full-length human type VII collagen mRNA of approximately 9.2 kilobases. The full-length cDNA sequence contains an 8,833 nucleotide open reading frame encoding 2,944 amino acids. The deduced amino acid sequence revealed the presence of a central collagenous domain flanked by a large NH2-terminal non-collagenous (NC-1) domain which consists of submodules with homology to known adhesive proteins, including nine fibronectin type III-like segments (FNIII), and a smaller COOH-terminal non-collagenous (NC-2) domain. In addition, we report six intragenic polymorphisms in the type VII collagen gene (COL7A1) which can be detected by restriction enzyme digestion of polymerase chain reaction-amplified segments. The complete cDNA sequence and polymorphisms in COL7A1 will facilitate mutational analysis and prenatal diagnosis for patients with the dystrophic forms of epidermolysis bullosa, in which mutations in COL7A1 have been demonstrated.
Highlights
From the Departments of $Llermatology, and **Biochemistry and Molecular Biology, Jefferson Medical College, and Section of Molecular Dermatology, Jefferson Znstitute of Molecular Medicine, and Jefferson Cancer Institute, Thomas Jefferson University, Philadelphia, Pennsylvania 19107 and the IDepartment of Pathology and Laboratory Medicine, University of Wisconsin, Madison, Wisconsin 53706
The anchoring fibrils extend from the lewnasamnciginiotedaheunlflshoiesboerudrm qsooCum(noNeOleanoCcOigctn-ieyn1€ft)€trloya-detpknvoeenkremma1oeald1weii1nndnb-alwyailtakdhhenhelisaoceehrnspggi-rvcmceeoeosenl% pelnsanrtig-sosctteteesenriooom n(fufFssi,sNnuainabI(NcIlcmIlenuC)on,do-datn2irnun)-adlgcelodsalco-omllamlftasauieigbnmirrsr-et.iieslnws,dahkaiednndrooteeopwntsttnhahaaeoesfyUltaa-hansmeshcsihaobnpocaaerisiadedntmeegstneprwsunlaacit.qtthuumTerhbeesema., sssHbeeormoaawtenrhreneaavttnetbmogr,oeesttmmohhmeebennerptadsaaonsfnpecai-tlhlhrlieaeokrreiyainnn-sgd-treurc-In addition, we reportsix intragenic polymorphisms in choring fibrilsappear to secure tahsesociation of the basement the type VI1 collagen gene (COL7A1) which can be de- membrane to the underlying dermis(4, 5)
The complectDeNA cutaneous basement membrane zone is attested t o by the obsequence and polymorphismsin COL7A1 will facilitate servations that alterations in these fibrils result in heritable mutational analysis and prenatal diagnosis for patientdsiseases, collectively known as thedystrophic forms of epiderwith the dystrophic forms of epidermolysis bullosa, in molysis bullosa (EB)' (6-8)
Summary
Career Development Awardfrom the Dermatology Foundation. $$ To whom correspondence should be addressed: Dept. of Dermatology, Jefferson Medical College, 233 S. 10th St.,Rm. 450, Philadelphia, PA 19107. $$ To whom correspondence should be addressed: Dept. We have completed the cloning of the entire al(VI1)chain of human type VI1 collagen, including the central collagenous segment and the ultimat5e' end. Thefulllength cDNA encompasses a total of -9.2 kb of nucleotide sequences. We have identified six intragenicpolymorphisms which may be useful in additional genetic linkage analyses and prenatal diagnosis in families with dystrophic forms of EB (14-16). The abbreviations used are: EB, epidermolysisbullosa;kb,kilobase(s);PCR, polymerase chain reaction; RT, reversetranscriptase;bp, base pairb)
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